ALBINISM

 ALBINISM 

Introduction 

• Albinism is a genetically determined, heterogeneous group of disorders of melanin synthesis  in which either the eyes alone (ocular albinism) or the eyes, skin and hair (oculocutaneous  albinism) may be affected. 
• The latter may be either tyrosinase-positive or tyrosinase-negative. 
• The different mutations are thought to act through a common pathway involving reduced  melanin synthesis in the eye during development. 
• Tyrosinase activity is assessed by using the hair bulb incubation test, which is reliable only  after 5 years of age. 
• Patients with albinism have an increased risk of cutaneous basal cell and squamous cell  carcinoma that usually occurs before the fourth decade. 

Tyrosinase-negative oculocutaneous albinism 

• Tyrosinase-negative (complete) albinos are incapable of synthesizing melanin and have white  hair and very pale skin throughout life with lack of melanin pigment in all ocular structures. 
• These individuals are deficient in the enzyme tyrosinase and are incapable of synthesizing melanin.  
• The clinical features are:  
• Blonde hair and fair skin. 
• Diaphanous blue irides which are responsible for photophobia. 
• Pendular nystagmus and grossly reduced visual acuity due to lack of differentiation of  the fovea and hypopigmentation of the fundus 

1. Inheritance is usually AR; the condition is genetically heterogeneous. 

2. Signs 

• (a) VA is usually <6/60 due to foveal hypoplasia. 
• (b) Nystagmus is typically pendular and horizontal. It usually increases in bright illumination and  tends to lessen in severity with age. 
• (c) The iris is diaphanous and translucent, giving rise to a ‘pink-eyed’ appearance. 
• (d) The fundus lacks pigment and shows conspicuously large choroidal vessels. There is also  foveal hypoplasia with absence of the foveal pit and lack of vessels forming the perimacular  arcades. 
• (e) The optic chiasm has fewer uncrossed nerve fibres than normal so that the majority of fibres  from each eye cross to the contralateral hemisphere. This can be demonstrated by visual evoked  potential which shows predominance in the response to monocular stimulation. 
• (f) Other features commonly seen include high refractive errors of various types, positive angle  kappa, squint and absence of stereopsis. 

Tyrosinase-positive oculocutaneous albinism 

• Tyrosinase-positive (incomplete) albinos synthesize variable amounts of melanin. The hair  may be white, yellow or red and darkens with age. 
• Skin colour is very pale at birth but usually darkens by 2 years of age. 

Ocular features 

1. Inheritance is usually AR with at least two gene loci. 

2. Signs 

• (a) VA is usually impaired due to foveal hypoplasia. 
• (b) Iris may be blue or dark-brown with variable translucency. 
• (c) Fundus shows variable hypopigmentation.

Associated systemic syndromes  

1. Chediak–Higashi syndrome 

• ∙ Inheritance is AR with the gene locus on 1q42. 
• ∙ Mild oculocutaneous albinism. 
• ∙ Leucocytic abnormalities resulting in recurrent pyogenic infections. 
• ∙ The vast majority of patients eventually develop a lymphoproliferative syndrome  (accelerated phase) characterized by fever, jaundice, hepatosplenomegaly, pancytopenia and  bleeding that requires bone marrow transplantation. 
• ∙ Prognosis for life is generally poor with demise in the 2nd decade. 

2. Hermansky–Pudlak syndrome 

• ∙ It is a lysosomal storage disease of the reticuloendothelial system. 
• ∙ Inheritance is AR. 
• ∙ Mild oculocutaneous albinism. 
• ∙ Platelet dysfunction resulting in early bruising. 
• ∙ Pulmonary fibrosis, granulomatous colitis and renal failure in some cases. 

3. Waardenburg syndrome 

• ∙ It is an AD condition of which there are four types. 
• ∙ The main systemic features are white forelock, cutaneous hypopigmentation, poliosis,  sensorineural deafness (particularly in type 2), and synophrys or an unusual hair  distribution.  
• ∙ Upper limb defects, flexion contractures and syndactyly in type 3 and neurological  anomalies in type 4. 
• ∙ Ocular features include lateral displacement of the medial canthi (not present in type 2), broad nasal bridge, hypochromic irides with segmental or total heterochromia, and  segmental or total choroidal depigmentation. 

Ocular albinism 

• Involvement is predominantly ocular with normal skin and hair although occasionally  hypopigmented skin macules may be seen. 

  

1. Inheritance is usually XL and occasionally AR with multiple gene loci identified. 

2. Female carriers are asymptomatic although they may show partial iris translucency,  macular stippling and mid-peripheral scattered areas of depigmentation and granularity. 

3. Affected males manifest hypopigmented irides and fundi.

 

MYAESTHENIA GRAVIS

 MYASTHENIA GRAVIS

• Myasthenia gravis is an autoimmune disease in which antibodies mediate damage and destruction of acetylcholine receptors in striated muscle.
• The resultant impairment of neuromuscular conduction causes weakness and fatigability of skeletal musculature, but not of cardiac and involuntary muscles.
• Myasthenia gravis is an uncommon disorder characterized by weakness and fatigability of voluntary musculature due to impaired transmission at the neuromuscular junction.
• The disease affects females twice as commonly as males. The female to male ratio is 2:1. (2F:M)

PATHOGENESIS-

Antibodies → damage Ach receptors→ impaired neuromuscular contraction→ weakness & fatiguability of skeletal muscles [not cardiac / involuntary muscles]

Myasthenia may be  

 (a) ocular 

(b) bulbar 

(c) generalized. 

Clinical features  

• Presentation is typically during the third and fourth decades with excessive fatiguability of  ocular, bulbar and skeletal muscles. 
• Symptoms are typically worse in the evenings, although some patients may be troubled on  first waking 

Systemic myasthenia 

1. Presentation is usually in the 3rd decade, but may be at any time after the first year of life, most  frequently with ptosis or diplopia. 

Patients with generalized involvement may develop painless fatigue, often brought on by exercise, which may be worse towards the end of the day, and provoked by infection or stress. 

2. Signs. The most important feature is fatigability, affecting musculature of the limbs and that  involved in facial expression, ocular movements, mastication and speech. 

(a) Peripheral 

• Weakness, particularly of the arms and proximal muscles of the legs. 
• Limb muscle weakness which is increased by repetitive movements.  
• Permanent myopathic wasting may occur in long-standing cases. 

(b) Facial. Lack of expression and ptosis (myopathic facies) 

(c) Bulbar. Difficulties with swallowing (dysphagia), speaking (dysarthria) and chewing. 

(d) Respiratory. Difficulty with breathing is rare but serious. 

3. Investigations include the following: 

• Edrophonium test  
• Raised serum acetylcholine receptor antibody levels. 
• Thoracic CT or MR to detect thymoma, which is present in 10% of patients.  Patients under the age of 40 years without thymoma generally have a hyperplastic thymus;  in older patients the thymus is usually normal (atrophic). 
• (Chest X-ray of the anterior mediastinum may show a thymic enlargement in 10-20% of patients (usually  males).  
• CT scan (or preferably MR scan) of the anterior mediastinum should be performed in all patients to rule out the  possibility of a thymoma.) 
• Electromyography may be very helpful in confirming fatigue with repetitive stimulation.

4. Treatment options include: 

1.  Long-acting Anticholinesterase drugs (pyridostigmine, neostigmine) 
2. Systemic Steroids 
3. Immunosuppressive drugs (azathioprine, ciclosporin, cyclophosphamide) 
4. Plasma exchange (Plasmapharesis to remove antibodies in severely affected cases) 
5. Intravenous immunoglobulins  
6. Thymectomy.  
• Thymectomy may be helpful in some patients. 
• Young women with generalized symptoms of recent onset are most likely to benefit. Thymectomy should also be performed if a thymoma is suspected 
• Patients with pure ocular myasthenia are usually not helped by thymectomy. 

Ocular myasthenia 

• Ocular involvement occurs in 90% of cases and is the presenting feature in 60%. ∙ Two-thirds of patients have both ptosis and diplopia. 
• Less than 10% of patients have ptosis alone and less than 30% have diplopia alone.   

1. Ptosis 

• insidious, bilateral and frequently asymmetrical. 
• It is worse at the end of the day and least on awakening. 
• Ptosis is worse on prolonged upgaze due to fatigue. 
• If one eyelid is elevated manually as the patient looks up, the fellow eyelid will show fine  oscillatory movements. 
• Cogan twitch sign is a brief upshoot of the eyelid as the eyes saccade from depression to the  primary position. 
• Positive ice test demonstrates an improvement in the severity of ptosis improves after an ice  pack is placed on the eyelid for 2 minutes as cold improves neuromuscular transmission. The  test is negative in non-myasthenic ptosis. 

2. Diplopia is frequently vertical, although any or all of the extraocular muscles may be  affected. 

• A pseudo-internuclear ophthalmoplegia may be seen. 
• Patients with stable deviations may  benefit from muscle surgery, botulinum toxin injection or a combination of both. 

3. Nystagmoid movements may be present on extremes of gaze. 

• Bizarre defects of ocular motility may also occur so that myasthenia should be considered in  the differential diagnosis of any ocular motility disorder that does not fit with a recognized pattern. 

Edrophonium test 

 Edrophonium is a short-acting anticholinesterase agent which increases the amount of acetylcholine  available at the neuromuscular junction. In myasthenia this results in transient improvement of symptoms  and signs.  

The estimated sensitivity is 85% in ocular and 95% in systemic myasthenia. Potential but uncommon  complications include bradycardia, loss of consciousness and even death. 

 The test should therefore never be performed without an assistant, and a resuscitation trolley should also be  close at hand in case of sudden cardiorespiratory arrest.  

The test is performed as follows: 

• (a) Objective baseline measurements are made of the ptosis, or of the diplopia with a Hess test. 
• (b) Intravenous injection of atropine 0.3 mg is given to minimize muscarinic side-effects. 
• (c) Intravenous test dose of 0.2 mL (2 mg) edrophonium hydrochloride is given. If definite symptomatic  improvement is noted, the test is terminated forthwith. 
• (d) The remaining 0.8 mL (8 mg) is given after 60 seconds, provided there is no hypersensitivity. 
• (e) Final measurements/repeat Hess testing are made and the results compared, remembering that the effect lasts  only 5 minutes.

Treatment

1. Anticholinesterase drugs-Pyridostigmine 60mg qid

                                            -Neostigmine

2.  Steroids.[ may precipitate respiratory crisis],so close monitoring is a must

3. Immunosuppressive – Azathioprine [1-3mg/kg/day]-OD /BD

                                     _  Cyclosporin [2-5mg/kg/day]

4. Plasma exchange

5. Intravenous immunoglobulins

6. Thymectomy

7. For ptosis- B/L  Frontalis sling

Diff from Eaton Lambert syndrome -

• Eaton Lambert syndrome -
• Affects pre-synaptic receptor [ MG- postsynaptic]
• Power is increased following exercise
• Reduced tendon reflex [ normal in MG]
• Seen in oat cell carcinoma

Ocular Manifestation of Leprosy

Leprosy

Source: Systemic kanski

Definition:

Leprosy (Hansen disease) is a chronic granulomatous infection caused by the intracellular acid-fast bacillus Mycobacterium leprae.

- which has an affinity for skin, peripheral nerves and the anterior segment of the eye.

- The exact mode of infection is unknown although the upper respiratory tract appears the most likely portal of entry.

MORPHOLOGY-

Straight / slightly curved rods

Acid fast

Gm +ve

Appears as agglomerates,being bound by a lipid substance- ‘glia’. These masses are k/as- “GLOBI” 

Parallel rows of bacilli in globi gives ‘ cigar bundle’ appear.

Clinical features:

Systemic disease manifests in two ways- 

GIANT CELL ARTERITIS

Giant cell arteritis

Giant cell arteritis (GCA) is a granulomatous necrotizing arteritis with a 

predilection for large and medium-size arteries, particularly 

Predilection for -Superficial temporal Artery 
                          -Ophthalmic Artery
                          -Posterior ciliary Artery
                          -Proximal vertebral Artery

The severity and extent of involvement are associated with the quantity of elastic tissue in the media and adventitia. Intracranial arteries, which possess little elastic tissue, are usually spared.

Vogt-Koyanagi-Harada syndrome

Source: KANSKI

VKH syndrome is an idiopathic multisystem autoimmune disease featuring inflammation of melanocyte-containing tissues such as the uvea, ear and meninges.

k/as Uveomeningeal syndrome
 

NEUROFIBROMATOSIS{ PHAKOMATOSIS }

NEUROFIBROMATOSIS{ PHAKOMATOSIS } - VON RECKLINGHAUSEN’S DISEASE

Systemic features

• The neurofibromatoses are a group of hereditary disorders
• It primarily affects the cell growth of neural tissues.
• Inheritance is AD with irregular penetrance and variable expressivity.
• The mutation rate is high.

The main types are:

1. Neurofibromatosis 1 (peripheral form) which is the most common. Gene locus- 17q11,AD

2. Neurofibromatosis 2 (central form) mainly consisting of bilateral acoustic neuromas with few if any cutaneous findings. Gene- 22q12

Segmental : Both may show segmental involvement in which the features are confined to one or more body segments.

Neurofibromatosis type 1

Systemic features

1. Intracranial tumours - primarily meningiomas and gliomas. 
   
   
2. Neurofibromas 
• It may develop anywhere along the course of peripheral or autonomic nerves - but do not occur on purely motor nerves. 
• They may also involve internal organs. 
1. Discrete cutaneous neurofibromas are small, soft, violaceous nodules or larger pedunculated flabby lesions. 
2. Nodular plexiform neurofibromas feel like a ‘bag or worms’ when palpated. Involvement of the eyelid gives rise to the characteristic S-shaped deformity. 
3. Diffuse plexiform neurofibromas may infiltrate widely and deeply into surrounding structures. Associated overgrowth of soft tissue and thick redundant folds of skin may result in considerable disfigurement. 
   
   
3. Skeletal. Short stature, mild macrocephaly (enlarged head), facial hemiatrophy, absence of the greater wing of the sphenoid bone, scoliosis and thinning of long bone cortex. 
   
   
4. Skin 
• Café-au-lait spots are light-brown macules that are most commonly found on the trunk. They appear during the first year of life and increase in size and number throughout childhood; teenagers and adults invariably have more than six. 
• Axillary or inguinal freckles usually become obvious around the age of 10 years and are pathognomonic. 
  
  
5. Associations include malignancies, hypertension and mental handicap. 

NF 1 : Diagnostic criteria

Two or more of the following must be present:

• Six or more café-au-lait macules over 5 mm in greatest diameter in pre-pubertal children, and over 15 mm in greatest diameter in post-pubertal individuals.
• Two or more neurofibromas of any type, or one plexiform neurofibroma. 
• Axillary or inguinal freckling.
• Optic glioma.
• Two or more Lisch nodules (iris hamartomas).
• A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis.
• A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria.

Ophthalmic features

1. Orbital involvement may be caused by one of the following:

(a) Optic nerve glioma develops in about 15% of patients.

• It may be unilateral or bilateral.
• typically presents between the ages of 4 and 8 years.
• with a gradual onset of unilateral proptosis and visual impairment.
• The optic disc may show either atrophy or oedema.
• In about 90% of patients, the tumour involves the anterior aspect of the optic canal and causes an enlargement of the optic foramen.
• tends to extend posteriorly to involve the chiasm and hypothalamus.
• Ultrasonography and CT show an enlargement of the optic nerve.
  
  
• Other orbital neural tumours such as (Orbital plexiform neuroma.)
• neurilemmoma,
• plexiform neurofibroma and
• meningioma.

(b) Spheno-orbital encephalocele

• It is caused by absence of the greater wing of the sphenoid bone.
  (Congenital defect in the sphenoid bone) 
• It characteristically causes a pulsating proptosis,( pulsatile congenital proptosis) 
• Not associated with a bruit or a thrill. 

2. Eyelid neurofibromas,

• which may be either nodular or plexiform,
• tend to develop early in life.
• When involving the upper lid, they frequently cause a mechanical ptosis.
• It is associated with a characteristic S-shaped deformity.

3. Iris lesions

(a) Lisch nodules

• Bilateral
• Melanocytic iris hamartomas (Lisch nodules)
• develop during the 2nd–3rd decades and are eventually present in 95% of cases. 
• universal after the age of 16 years.
• The nodules have a smooth outline and are dome shaped.

(b) Congenital ectropion uveae is uncommon and may be associated with glaucoma. 

(c) Mammillations are rare.

4. Prominent corneal nerves may occur.

5. Glaucoma is rare and

• when present, is usually unilateral and congenital. and is frequently associated with an ipsilateral lid neurofibroma.
  (About 50% of patients with glaucoma manifest ipsilateral neurofibroma of the upper eyelid and facial hemiatrophy.)

6. Fundus lesions

 
(a) Choroidal naevi, which may be multifocal and bilateral, are common. Patients with NF1 and naevi are at increased risk for the subsequent development of choroidal melanoma.

(b) Retinal astrocytomas, identical to those in tuberous sclerosis, are rare.

(c) Choroidal hamartomas are present in about 30% of cases. They appear as discrete flat or slightly elevated areas of hyperpigmentation, dark brown-black in colour.

Neurofibromatosis type 2

∙ Neurofibromatosis 2 (NF2) is less common than NF1.

∙ Inheritance is AD with the gene locus on 22q12.

 

Diagnostic criteria

1. Bilateral acoustic neuromas which usually present in the late teens or early 20s with hearing loss, tinnitus or imbalance.

Most acoustic neuromas are schwannomas arising from the vestibular nerve. In young patients tumour growth is invariably fast, whereas in older patients the lesion may be either slow- or rapid-growing. Recent advances in microsurgical techniques have significantly improved the results of surgery. The gamma knife (stereotactic radiotherapy) provides a therapeutic option.

2. A patient with a first-degree relative with NF2 who also has either a unilateral acoustic neuroma or two of the following: neurofibroma, meningioma, glioma, schwannoma or juvenile cataract.

Ophthalmic features

The following ocular lesions are often the first signs of the disease and may therefore assist in pre symptomatic diagnosis:

1. Cataract affects about two-thirds of patients.  - Post subcapsular cataract
The opacities develop prior to the age of 30 years and
It may be posterior subcapsular or capsular, cortical or mixed.

2. Fundus lesions consisting of combined hamartomas of the retinal pigment epithelium and retina, and
perifoveal epiretinal membranes are relatively common.

3. Ocular motor defects are present in about 10% of cases.

4. Less common findings include

optic nerve sheath meningioma,
optic nerve glioma,
unilateral Lisch nodules and
an abnormal electroretinogram.

WILSON'S DISEASE

WILSON'S DISEASE

Definition

• Wilson's disease is a rare autosomal recessive disorder caused by a deficiency of the plasma copper carrying protein caeruloplasmin.
• It is characterized by widespread deposition of copper in the tissues with particular impact on the liver and brain.
• Pathogenesis.: Wilson disease (hepatolenticular degeneration) is a rare condition caused by deficiency of caeruloplasmin resulting in widespread deposition of copper in the tissues.

SARCOIDOSIS

SARCOIDOSIS

Definition

• Sarcoidosis is a common multisystem disorder of unknown etiology.
• characterized by the presence of non-caseating granulomata in the lungs and other organs.
• Sarcoidosis is a T-lymphocyte-mediated non-caseating granulomatous inflammatory disorder of unknown cause.
• Sarcoidosis is a T-lymphocyte-mediated non-caseating granulomatous inflammatory disorder of unknown cause. 
• It is most common in colder climates, although it more frequently affects patients of African descent than Caucasians. (more in blacks than whites)
• The clinical spectrum of disease varies from mild single-organ involvement to potentially fatal multisystem disease which can affect almost any tissue. 
• The tissues most commonly involved are the mediastinal and superficial lymph nodes, lungs, liver, spleen, skin, parotid glands, phalangeal bones and the eye. 

WEGENER'S GRANULOMATOSIS

WEGENER'S GRANULOMATOSIS:

Definition: 

• Wegener's granulomatosis is a rare idiopathic, multisystem disease characterized by generalized small vessel vasculitis affecting respiratory tract and kidneys
• The disease affects males more commonly than females.

Clinical features:

THYROID EYE DISEASE

CONGENITAL RUBELLA SYNDROME

 CONGENITAL RUBELLA SYNDROME 

Source:kanski

Rubella virus - Togavirus family (RNA virus.) 

Transmission 

• Congenital rubella results from the transplacental transmission of virus to the foetus from an infected mother. 
• Maternal Rubella infection acquired during first trimester of pregnancy (second or third month).
• Usually occurs in the first trimester of pregnancy. 
• That may lead to serious chronic fetal infection and malformations. 
• Risk to the foetus is related to the stage of gestation at the time of maternal infection. 
• 50% cases- first 8 weeks ; 33%-9-12 weeks ; 10% - 13-24 weeks 
• Virus spreads through blood stream to various tissues including placenta. 

Note: Congenital rubella can be prevented by vaccination of the mother. Since the rubella vaccine is toxic to the foetus, it must therefore, be administered atleast 3 months before the pregnancy. 

 Rubella syndrome 

Congenital rubella cataract may occur alone or as part of the classic rubella syndrome which consists of: 

1. Ocular defects

• Congenital cataract
• Salt & pepper chorioretinopathy 
• Microphthalmos 
• Cloudy cornea
• Poorly dilating pupil 

2. Ear defects 

• Deafness due to destruction of organ of Corti 

3. Heart defects 

• Patent ductus arteriosus 
• Pulmonary stenosis 
• Ventricular septal defect 

Systemic features: 

1. Intrauterine growth retardation
2. Congenital heart disease eg. ASD,VSD,PDA
3. Deafness
4. Microcephaly & mental retardation 

Ocular features: 

1. Congenital nuclear cataract or total cataract 
2. Glaucoma 
3. Clouding of cornea 
4. Anterior uveitis-iris atrophy 
5. Chorioretinitis 
6. Microophthalmos 
7. Keratitis  
8. Extreme refractive error 

 Microophthalmos  

• Occurs in 10% cases. 
• Due to growth retardation effect of virus on developing tissues. 

Rubella Cataract 

• Occurs in 15% cases.
• may be unilateral or bilateral
• although lens opacity usually present at birth, cataract may develop several weeks/months later.
• After 6 weeks of gestation, virus is incapable of crossing lens capsule, so lens is immune.
• Rubella cataract typically, the child is born with ‘pearly white’ nuclear cataract.
• It is progressive type of cataract. 
• Lens matter may remain soft or even liquify (Congenital Morgagnian Cataract).
• The opacity involves nucleus with dense pearly appearance Or it involves most of the lens with diffuse opacity. 
• The virus persists within lens for upto 3 years after birth. Therefore removal of such a cataract is usually followed by a severe inflammatory reaction (uveitis or even endophthalmitis). So adequate precaution taken during cataract extraction & avoid exposure to cortical nucleus. 

Glaucoma  

• Occurs in 10% cases. 
• 2 types  - Congenital    - Acquired 
• Occurs due to angle dysyeresis  (or)  secondary to iridocyclitis. 

Iris hypoplasia 

• Seen if infection is present in early pregnancy 

Chronic iridocyclitis 

• with iris & ciliary body pigment epithelium necrosis. 

Corneal clouding 

• Secondary to endothelitis & uncontrolled IOP. 

Pendular Nystagmus: 

• latent, fine or jerky 

Strabismus: 

• due to organic amblyopia or esotropia. 

Retinopathy 

• ‘Salt & pepper retinopathy’ resulting from non-inflammatory depigmentation of retinal pigment epithelium RPE 
• Pigmentary disturbance involve mainly posterior pole
• Some patient develop choroidal neovascularization (subretinal neovascularization) -SRNVM 
• Typical fundus picture:  
• Fine granular mottled pepper like pigment clumping of variable size.
• Affects all parts but mainly posterior pole.
• Lesion described as ‘salt pepper’ & ‘moth eaten appearance’. 

Treatment: no specific management is required. 

XEROPHTHALMIA ( Vitamin A Deficiency )

 XEROPHTHALMIA 

Xerophthalmia refers to the spectrum of ocular disease caused by lack of vitamin A, and is a late manifestation of severe deficiency.

They term xerophthalmia is now reserved (by a joint WHO and USAID Committee, 1976) to cover all the ocular manifestations of vitamin A deficiency, including not only the structural changes affecting the conjunctiva, cornea and occasionally retina, but also the biophysical disorders of retinal rods and cones functions.

Ocular side effect of systemic drugs

Systemic steroids

OCULAR FEATURES IN BLOOD DISORDERS

BLOOD DISORDERS IN OPHTHALMOLOGY

Anaemia

Definition

• The anaemias are a common group of disorders affecting the red blood cells,

• characterized by either a decrease in the number of circulating red blood cells or a decrease in the amount of haemoglobin in each cell, or both, that occurs when the equilibrium between blood loss and production are disturbed.( > RBC or > in Hb)

• Retinal changes in anaemia are usually innocuous and rarely of diagnostic importance.

Systemic features

• The symptoms common to all anaemias are fatigue and weakness.

• Patients with iron deficiency anaemia may have pallor, brittle nails, koilonychias, an atrophic tongue and angular stomatitis.

Ocular features

Retinopathy

• Although retinal changes in anaemia are common, they are usually innocuous and rarely of diagnostic importance. 

• The three main findings are haemorrhages, cotton-wool spots and venous tortuosity. 

• Retinal venous tortuosity is related to severity of anaemia. It may occur in isolation or may seen in patients particularly with beta-thalassaemia major. It seems to be related to the reduction in haematocrit and severity of anaemia. 

• Dot/blot and Flamed-shaped hemorrhages and cotton-wool spots may occur in the absence of other haematological abnormalities. but they are more common when anaemia coexists with thrombocytopenia in aplastic anemia. The duration and type of anaemia do not influence the occurrence of these changes..

• Roth's spots - In anaemia the retinal haemorrhages may have white centres (Roth's spots) which are thought to represent a fibrin thrombus occluding a ruptured blood vessel with surrounding haemorrhage. Roth's spots are also seen in infective endocarditis and the leukaemias.

OCULAR  LESIONS IN AIDS

*OCULAR ADNEXA-

HERPES ZOSTER OPHTHALMICUS-

Varicella zoster

UL

Any age

More sev in immunocompromised

C/F- Pain –V N

           -Maculopapular rash on forehead→vesicles→pustules→crusting ulceration

           -Periorbital edema

*  T/T-

Systemic-

1.  T.Acyclovir 1gm TDS  Or

2.  T. Famciclovir 250mg TDS / 750 mg OD

 Topical-

1. acyclovir cream 3% TDS

     2. Hydrocortisone 1 %  + Fusidic acid 2%  or   Oxytetracycline 3%  till crusts separate.

KAPOSI’S SARCOMA-

Human herpes virus-8

Affects lids & conj

Vascular tum

Pink, red-violet to brown small lesion or large , rapidly growing tum that may ulcerate & bleed

T/T- RT or Excision

MOLLUSCUM CONTAGIOSUM-

Pox virus

Pale, waxy, umbilicated nodule.

IL chr follicular c’vitis [ d/t viral shedding in fornix]

T/T- 1. Shave excision

2. Cautery /cryo /laser

Conjunctival microvasculopathy

Sludging, dilated, tortuous, comma shaped Vs

Allergic C’vitis

*ANTERIOR SEGMENT LESION-

DRY EYE-

D/T- systemic malabsorption of nutrients to maintain a healthy tear film / toxicity from sys drugs.

Burning sensation & watering

T/T- Tear subs & punctual occlusion

 INFECTIVE KERATITIS-

HERPES ZOSTER OPHTHALMICUS-

Acute phase-

Skin rash

Pain

Influenza like illness

Keratitis- 

Acute epithelial keratitis- Dendrite / stellate lesion

Nummular keratitis- Subepithelial deposits surrounded by halo of stromal haze

Disciform keratitis

Chronic phase-

Keratitis-

Nummular keratitis- Peripheral lesions form facets which become vascularized & infiltrated with lipids

Disciform keratitis

Neurotrophic keratitis- Ulceration→sec bact inf→ perforation

Mucus plaque keratitis

Recurrent phase.

T/T-

T. Aciclovir 800mg 5 times / day for 10 days

Oral analgesics

Topical Hydrocortisone 1% + Fusidic acid 2 % [ or oxytetracycline3 %] till the crusts separate

HERPES SIMPLEX KERATITIS-

Herpes virus DNA

Primary ocular infection- 

Follicular C’vitis

Blepharoconjunctivitis

Sec canalicular obstrn

Epithelial keratitis-

Dendritic ulcer- Linear branching ulcer with terminal end-bulbs.

Disciform keratitis-

-Central zone of epith edema overlying stromal thickening

- Surrounding Wessely’s ring of stromal ppts

Stromal necrotic keratitis-

-Cheesy necrotic stroma

   -Ant uveitis with KPs underlying active stromal infiltration

 T/T-

T Aciclovir 400mg 5 /day

Topical- Aciclovir e/o- 3 %- 5 / day for 14 days

        -   Ganciclovir 0.15 %   e/ gel   5/ day

        -  Trifluorothymidine 1 %   e/d   2 hrly

Debridement

MICROSPORIDIAL KERATITIS-

Obligate intracellular protozoa

Bil diffuse chr. Punctate epith keratoconjunctivitis

T/t- Topical Fumagillin

              -Oral Albendazole

              - HAART

*POSTERIOR SEGMENT LESIONS-

HIV RETINOPATHY-

CW spots- MC- result from occlusion of precapillary  

                    arterioles

                   -No effect on V/A

                   - No T/T

Intraretinal h’age

Ret telangiectasia

Vascular tortuosity

Venous / arteriolar occlusion

CMV RETINITIS- 

Folder- uvea-pg6

PORN [ uvea-pg7], ARN [uvea-pg8], Toxoplasma [uvea pg9]

FUNGAL ENDOPHTHALMITIS-

CANDIDA CHORIORETINITIS-

Unilateral 

Ocular pain

DOV

Floaters

White, fluffy, chorioretinal lesions with overlying vitritis

Inf can spread into vitreous-white snow-ball like or cotton ball opacities

Satellite lesion adjacent to prim lesion

T/T- IV Amphotericin B 1 gm for 4-6 wks

           -5-Fluorocytosine 150mg/kg daily

           -Ketoconazole 200-400mg/day

           -If no response→  PPV + Intravitreal Amphotericin-B 5μg/0.1ml

PNEUMOCYSTITIS CARINII CHOROIDOPATHY-

Extrapulmonary dissemination→ choroidal inv

Seen in pts receiving inhaled aerosolized pentamidine

BL

Flat, yellow,round choroidal lesions

Vitreous NOT inv

V/A not impaired even in subfoveal inv

T/T- IV cotrimoxazole [ Trimethoprim + sulphamethoxazole ] or pentamidine.

 CRYPTOCOCCUS CHOROIDITIS-

Multifocal , yellow-white, choroidal lesions

Small glistening spheres at vitreoretinal interface

ON inv→ Rapid visual loss

T/T- IV Amphotericin-B 1gm

          -Endoph- IV Amphotericin B + PPV

*ORBIT-

- burkitt’s lymphoma

- orbital cellulites

*NEUROPHTHALMOLOGY-

- Cranial N palsy

-Papilloedema

-OA

-Lagophthalmos

SYSTEMIC OPHTHAL NOTES

                         

                                                 SYSTEMIC

             OCULAR  LESIONS IN AIDS [D-02,J-04,]

1. OCULAR ADNEXA-

1. HERPES ZOSTER OPHTHALMICUS-

• Varicella zoster
• UL
• Any age
• More sev in immunocompromised
• C/F- Pain –V N

          -Maculopapular rash on forehead→vesicles→pustules→crusting ulceration

          -Periorbital edema

*  T/T-

Systemic-

1.  T.Acyclovir 1gm TDS  Or

2.  T. Famciclovir 250mg TDS / 750 mg OD

Topical-

1. acyclovir cream 3% TDS

    2. Hydrocortisone 1 %  + Fusidic acid 2%  or   Oxytetracycline 3%  till crusts separate.

2. KAPOSI’S SARCOMA-

• Human herpes virus-8
• Affects lids & conj
• Vascular tum
• Pink, red-violet to brown small lesion or large , rapidly growing tum that may ulcerate & bleed
• T/T- RT or Excision

3. MOLLUSCUM CONTAGIOSUM-

• Pox virus
• Pale, waxy, umbilicated nodule.
• IL chr follicular c’vitis [ d/t viral shedding in fornix]
• T/T- 1. Shave excision
• 2. Cautery /cryo /laser

4. Conjunctival microvasculopathy

• Sludging, dilated, tortuous, comma shaped Vs

5. Allergic C’vitis

2. ANTERIOR SEGMENT LESION-

1. DRY EYE-

• D/T- systemic malabsorption of nutrients to maintain a healthy tear film / toxicity from sys drugs.
• Burning sensation & watering
• T/T- Tear subs & punctual occlusion

2. INFECTIVE KERATITIS-

HERPES ZOSTER OPHTHALMICUS-

1. Acute phase-

• Skin rash
• Pain
• Influenza like illness
• Keratitis-

1. Acute epithelial keratitis- Dendrite / stellate lesion
2. Nummular keratitis- Subepithelial deposits surrounded by halo of stromal haze
3. Disciform keratitis

2. Chronic phase-

• Keratitis-

1. Nummular keratitis- Peripheral lesions form facets which become vascularized & infiltrated with lipids
2. Disciform keratitis
3. Neurotrophic keratitis- Ulceration→sec bact inf→ perforation
4. Mucus plaque keratitis

3. Recurrent phase.

T/T-

1. T. Aciclovir 800mg 5 times / day for 10 days
2. Oral analgesics
3. Topical Hydrocortisone 1% + Fusidic acid 2 % [ or oxytetracycline3 %] till the crusts separate

HERPES SIMPLEX KERATITIS-

• Herpes virus DNA
• Primary ocular infection-
• Follicular C’vitis
• Blepharoconjunctivitis
• Sec canalicular obstrn

• Epithelial keratitis-
• Dendritic ulcer- Linear branching ulcer with terminal end-bulbs.

• Disciform keratitis-

-Central zone of epith edema overlying stromal thickening

- Surrounding Wessely’s ring of stromal ppts

• Stromal necrotic keratitis-

-Cheesy necrotic stroma

  -Ant uveitis with KPs underlying active stromal infiltration

T/T-

1. T Aciclovir 400mg 5 /day
2. Topical- Aciclovir e/o- 3 %- 5 / day for 14 days

       -   Ganciclovir 0.15 %   e/ gel   5/ day

       -  Trifluorothymidine 1 %   e/d   2 hrly

3. Debridement

MICROSPORIDIAL KERATITIS-

• Obligate intracellular protozoa
• Bil diffuse chr. Punctate epith keratoconjunctivitis
• T/t- Topical Fumagillin

             -Oral Albendazole

             - HAART

C] POSTERIOR SEGMENT LESIONS-

1. HIV RETINOPATHY-

• CW spots- MC- result from occlusion of precapillary  

                   arterioles

                  -No effect on V/A

                  - No T/T

• Intraretinal h’age
• Ret telangiectasia
• Vascular tortuosity
• Venous / arteriolar occlusion

CMV RETINITIS- Folder- uvea-pg6

PORN [ uvea-pg7], ARN [uvea-pg8], Toxoplasma [uvea pg9]

FUNGAL ENDOPHTHALMITIS-

CANDIDA CHORIORETINITIS-

• Unilat
• Ocular pain
• DOV
• Floaters
• White, fluffy, chorioretinal lesions with overlying vitritis
• Inf can spread into vitreous-white snow-ball like or cotton ball opacities
• Satellite lesion adjacent to prim lesion
• T/T- IV Amphotericin B 1 gm for 4-6 wks

          -5-Fluorocytosine 150mg/kg daily

          -Ketoconazole 200-400mg/day

          -If no response→  PPV + Intravitreal Amphotericin-B 5μg/0.1ml

    PNEUMOCYSTITIS CARINII CHOROIDOPATHY-

• Extrapulmonary dissemination→ choroidal inv
• Seen in pts receiving inhaled aerosolized pentamidine
• BL
• Flat, yellow,round choroidal lesions
• Vitreous NOT inv
• V/A not impaired even in subfoveal inv
• T/T- IV cotrimoxazole [ Trimethoprim + sulphamethoxazole ] or pentamidine.

CRYPTOCOCCUS CHOROIDITIS-

• Multifocal , yellow-white, choroidal lesions
• Small glistening spheres at vitreoret interface
• ON inv→ Rapid visual loss
• T/T- IV Amphotericin-B 1gm

         -Endoph- IV Amphotericin B + PPV

D] ORBIT-

- burkitt’s lymphoma

- orbital cellulites

E] NEUROPHTHALMOLOGY-

- Cranial N palsy

-Papilloedema

-OA

-Lagophthalmos

             MYAESTHENIA GRAVIS [J-05,D-03]

DEF-

An autoimmune dis in which antibodies mediate damage & destruction of acetylcholine receptors at the postsynaptic juncn in the striated ms

EPID-

• 2F : M
• 3rd decade

PATHOGENESIS-

Antibodies → damage Ach receptors→ impaired neuromuscular contraction→ weakness & fatiguability of skeletal ms [not cardiac / invol ms]

TYPES-

1. Ocular
2. Bulbar
3. Generalised

SYMPTOMS-

• Ptosis
• Diplopia
• Painless fatigue on exercise which worsens towards the end of the day & with inf / stress.

SIGNS-

1. Peripheral ms weakness-arms & legs
2. Facial-lack of expression- Mask face
3. Bulbar- Dysphagia

              -Dysarthria

              -Diff in chewing

4.Resp- Diff breathing

5. Ocular- 90% inv

a)  Ptosis-

*  Insidious

*  Bil & asymmetric

*  Worse at the end of the day & least on awakening

*  Worse on prolonged upgaze

*  If one lid is elevated manually while the pt looks up, the fellow lid shows fine oscillatory movts

* COGAN TWITCH SIGN-

-Brief upshoot of the lid as the eyes saccade from depression to prim pos.

• Positive ice test-

Ptosis improves after ice is kept on the lid for 2 min.

2. Diplopia- vertical
3. Nystagmus
4. Pseudointernuclear o’plegia

INV-

1. EDROPHONIUM TEST-

Short acting anticholinesterase → increases the amt of Ach at the NM juncn→ Transient improvement of ptosis & diplopia

Performed as foll-

• Objective baseline measurement of ptosis & diplopia [hess chart]
• IV Atropine 0.3mg [to counteract muscarinic S/E]
• IV 0.2ml [ 2mg ] Edrophonium HCl
• Wait for 60 sec
• Inject 0.8ml [8mg ]
• Final measurements within 5min & results compared

2. Electromyography
3. Increased ser Ach receptor antibodies level
4. Thoracic CT scan & MRI- for thymoma

 T/T-

1. Anticholinesterase drugs-Pyridostigmine 60mg qid

                                           -Neostigmine

2.  Steroids.[ may precipitate resp crisis],so close monitoring is a must

3. Immunosuppressive – Azathioprine [1-3mg/kg/day]-OD /BD

                                    _  Cyclosporin [2-5mg/kg/day]

4. Plasma exchange

5. Intravenous immunoglobulins

6. Thymectomy

7. For ptosis- BIL  Frontalis sling

Diff from Eaton Lambert syn-

• Eaton Lambert syn-
• Affects pre-synaptic receptor [ MG- postsynaptic]
• Power is increased foll exercise
• Reduced tendon reflex [ nml in MG]
• Seen in oat cell carcinoma

             SARCOIDOSIS

DEF-

Non-caseating , granulomatous disease.

SYSTEMIC FEATURES-

LOFGREN SYN-

• Fever
• Erhythema nodosum
• BL Hilar LNpathy
• Arthralgia
• Acute iridocyclitis

    HEERFORDT SYN-

• Fever
• Parotid gld enlargement            [PUF]
• Uveitis

• VII N Palsy
• LUNGS- Pulmonary fibrosis

                 -Bronchiectasis

                 -BL Hilar LNpathy

-SKIN- EN

         -Lupus pernio-indurated blue plaques

OCULAR FEATURES-

ANTERIOR SEGMENT-

• KCS
• Band KP
• Conj granuloma
• Lacrimal gld enlargement
• Uveitis- granulom / non-granulom

                -Mutton fat KPs

                -Choroidal granulomas

               - Chorioretinitis

               -Parsplanitis

*  Cataract

*  Glaucoma

POSTERIOR SEGMENT-

* Vitritis & snowballs

*  Papilloedema

*  Optic neuritis

*  Neuroretinitis

*  Retinal vasculitis

*  perivascular granulomata & ON granuloma

*  Perivenous exud with CANDLE WAX DRIPPING

*  Ret NV

*  VH

*  BRVO & CRVO

INV-

1. Skin test – Kweim test

                 _  Mantoux

2. Ser. Lysozyme

Ser. Globulin

Ser. ACE

Ser Ca -raised

3. X-ray –chest & phalanges
4. Gallium scan
5. Biopsy –Lacrimal gld & conj nodules
6. BAL-broncho alveolar lavage
7. Bronchoscopy with transbronchial biopsy

T/T- 1)  Steroids- periocular- Triamcinolone acetonide 40mg or

                                            Methyl prednisone 40 mg

                                             ( ant / post subtenon)

                      -Systemic – oral prednisone 1 mg/kg/ day

2) Low dose Methotrexate

            

             NEUROFIBROMATOSIS

                 { PHAKOMATOSIS }

  VON RECKLINGHAUSEN’S DISEASE

• NF-1
• Gene locus- 17q11
• AD

• SIGNS-

NEURAL  TUMORS-

• CNS
• Cranial Ns
• Peripheral Ns
• Sympathetic Ns

SKELETAL-

• Short stature
• Macrocephaly
• Facial hemiatrophy
• Absence of greater wing of sphenoid
• Scoliosis
• Thinning of cortex of long bone

    SKIN-

• Café-au-lait spots- flat , light brown patches
• Axillary freckles
• Fibroma molluscum-pedunculated flabby nodules
• Plexiform  neurofibroma

   OCULAR-

• 1.Orbit- Optic N glioma
•         -Spheno-orbital encephalocele→ Pulsating        

                                                   Exophthalmos

            -Neurilemmoma

            -Plexiform neurofibroma

            - Meningioma

2.Lid-

Neurofibroma – Plexiform

                      _  nodular

3.Iris-

• Lisch nodules
• Cong ectropion uveae
• Mamillations

4.Prominent corneal Ns

5.Glaucoma

Pathogenesis-

• Obstrn of aq outflow by NF tiss
• Dev angle anomaly
• Forward displacement of peripheral iris asstd with NF thickening of CB→ sec angle closure
• Contraction of fibrovascular memb→ Synechial angle closure

   6.  Fundus- Choroidal naevi-watch for melanomatous changes

              -  Ret astrocytoma-no t/t

NEUROFIBROMATOSIS 2

• Gene- 22q12
• BL acoustic tum
• Post subcapsular cataract
• Fundus- Hamartoma RPE & ret

               -Perifoveal epiret membrane

    TUBEROUS SCLEROSIS

• Also k/as- Bournville’s dis
• AD
• Triad -  Epilepsy

             - MR

             -Skin lesions- Adenoma sebaceum

                                 - Ash-leaf spots

                                 - Shagreen patch

                                 - Depigmented naevi

                                 - Fibroma molluscum

                                 -Fibrous plaques on forehead

                                 -Subungal hamartoma

- CNS- Ependymomas

        -Astrocytomas

-OCULAR-

*  Retinal astrocytomas-50%

# white semitransparent or mulberry appearing tum in the superficial retina.

*  Hypopigmented patches on iris & ret

*  Papilloedema & VI N palsy

INV-

1. CBC
2. .CT and MRI-BRAIN
3. EEG
4. Echocardiography
5. X ray chest
6. CT scan –abdomen.

Rx-

1. Genetic councelling
2. Retinal astrocytomas require no t/t

VON HIPPEL LINDAU SYN

[J-07, J-05]

• Gene- Chromosome 3
• Tumors-

-Haemangioblastoma- cerebellum, spinal cord, medulla ,pons

- Renal cell ca

-Phaeochromocytoma

• Cysts- Renal , pancreatic. Hepatic, epididymis, ovary, pulmonary
• Polycythaemia
• Ocular- Capillary haemangioma of retina / ONH →

 --Earliest lesion

--small ,red,orange –red tum with a prominent dilated feeding A & draining V

--Subretinal exud

--SRF

--Total RD

--Macular traction & ERM

INV-

1. CBC
2. Ser electrolytes
3. Urine levels of epinephrine & Norepinephrine
4. MRI brain
5. CT scan –abdo
6. IV fluorescein angio

    T/T-

1. Retinal capillary haemangioblastoma-

• Photocoagn
• Cryotherapy
• Diathermy
• Radiation therapy-plaque RT

                               - Proton beam irradiation

-  Microsurgical resection

-Enucleation ( blind painful eye)

            STURGE WEBER SYNDROME-

• Encephalotrigeminal angiomatosis[ETA]
• Sporadic
• Trisystem- Face

                    - Leptomeninges

                    - Eyes

*  Bisystem- Face& Eyes

                           Or         

                 - Face & Leptomeninges

• Presents at birth.
• SIGNS-

A ) FACE-  Port wine stain-over the V N distribution

B) LEPTOMENINGES-

• Ipsilateral parietal / occipital leptomeningeal haemangioma→

                                                                 - Seizures

                                                                 - Hemiparesis

                                                                 -Hemianopia

- MR

C) EYES-

• Glaucoma [IL]
• Diffuse choroidal haemangioma
• IL Episcleral haemangioma
• Heterochromia iridis

   INV-

1. X-ray – “Tramline” cerebral calcification
2. CT scan & MRI- for haemangioma

   T/T-

1. Intractable seizures→ Subtotal Hemispherectomy
2. Portwine stain→ dermatological laser
3. Choroidal haemangioma-

• Photo- argon, xenon, krypton or dye laser
• TTT
• PDT
• Radiation therapy
• Enucleation

4. Glaucoma- Latanoprost 0.005% HS

                    - Goniotomy- For angle anomalies

                    - Trabeculotomy + Trabeculectomy→

                      Removes barrier to aq outflow

             OCULAR  TUBERCULOSIS

DEF-

Chronic granulomatous infection caused by tubercle bacilli

• Mycobacterium bovis [ bovine]- by milk
• Mycobacterium tuberculosis [human]- droplet inf

MORPHOLOGY-

• Slender rods with branching filamentous forms
• Resemble fungal mycelium ,so k/as mycobact i.e fungus like bacteria
• Do not stain readily , but once stained resist decolourisation with dilute mineral acid – k/as Acid fast
• Aerobic
• Non-motile
• N0n-capsulated
• Non-sporing
• Slow growth

    PATHOGENESIS-

       Inhalation of aerosolized droplets→ Asymptomatic , self-limited pulmonary granuloma→ resolves & becomes dormant→ reactivates later→ disseminates to other organs.

OCULAR TB-

CONJ-

• Phlyctenular c’vitis- small, grey –yellow nodules on bulbar conj near limbus
• Prod refex lacrimation

CORNEA-

• Phlyctenular keratitis
• Fascicular ulcer-
• Phlyctenular ulcer migrates slowly from the limbus to the centre of the cor in a serpiginious way.
• It carries a leash of BVs  which lie in a shallow gutter formed by the ulcer.
• Superficial allergic type of ulcer
• Never perforates
• When the ulcer heals, the BVs attenuate with a dense cor opacity near the apex of the ulcer

UVEA-

• Tuberculous iritis

1. Metastatic [granulomatous]-

• Miliary-small ,yellowish white nodule surrounded by small

               Satellites near the pupillary or ciliary margin

• Conglomerate- Larger, yellowish white tumor

                          - smaller satellites may be present

                          - Nodules contain giant cells

2. Exudative [non-granulomatous]

• Tuberculous choroiditis-Tubercles

                                          -Tuberculomas

Tubercles-Post pole

              - Solitary/multiple

              -Multifocal

             -0.3-3mm dia

             -  Yellowish, grayish or white

             -overlying serous RD

Tuberculomas- Solitary

                      -Grayish white

                      -Raised

                      -2-3 DD

                      -Overlying exud RD

RETINA-

Eale’s disease [retinal periphlebitis]-

• recurrent VH
• young healthy adult males
• Periphlebitis→ intraretinal h’age→vascular tortuousity & collaterals→ NV

INV-

1. Sputum exam for AFB
2. Chest X-ray
3. Montoux test
4. Anticord factor antibody

T/T-

5 anti-TB drugs

1) ISONIAZID [H]- 5mg/kg

s/e – optic neuritis

• hepatitis

2) RIFAMPICIN [R]- 10mg/kg

S/E –Hepatitis

     -  Red –orange urine

3) STREPTOMYCIN [S]-15mg/kg

S/E- Ototoxic

• Nephrotoxic

  4) ETHAMBUTOL [E]- 20mg/kg

  S/E- ON

       -Red-green colour blindness

5. PYRAZINAMIDE [Z]-25mg/kg

    S/E –Hepatitis

          -Hyperuricemia

                                    LEPROSY [J-03, J-02]

DEF-

Chronic granulomatous infn caused by an acid fast bacilli-myco leprae.

MORPHOLOGY-

• Straight / slightly curved rods
• Acid fast
• Gm +ve
• Appears as agglomerates,being bound by a lipid subst- ‘glia’.These masses are k/as- “GLOBI”
• Parallel rows of bacilli in globi gives ‘ cigar bundle’ appear.

CULTURE-

• Specimen collected from –skin, ear lobule, nasal mucosa
• Smear stained with Zeihl-Nelson stain using 5% H2SO4 acid for decolourization
• Grading of smear-
  1-10 bacilli / 100 fields – 1+

1-10 bacilli / 10 fields- 2+

1-10 bacilli /field       - 3+

10-100 bacilli / field -  4+

100-1000 bacilli / field – 5+

> 1000 bacilli & globi / field -6+

Bacteriological index- Total no of + /  no of smear

Morphological index- %  uniformly stained bacilli / total no of bacilli counted

Leprosy – skin

           - nose

           -eyes

           - peripheral Ns

           -bones

           - testes

TYPES-

  1 . LEPROMATOUS-

*  cutaneous

*   decreased CMI

*   Direct ocular inv

2. TUBERCULOID-

• Neural
• Good CMI
• Indirect ocular inv-Neurotrophic & neuroparalytic KP

    PATHOLOGY-

   Tuberculoid form-

   Granuloma + Lack of large no of bacilli [ b/o good CMI]

   Lepromatous form-

   Macrophages with numerous AFB [ b/o decreased CMI]

   Iris pearls- Macrophages filled with bacilli

SYSTEMIC –

SKIN-

• Hypopigmentation
• Erhythema nodosum
• Plaques & nodules

NERVES-

• Skin anaesthesia
• Thickened peripheral Ns
• Facial palsy

DEFORMITIES-

• Saddle-shaped nose
• Leonine facies
• Claw hand [ulnar N palsy]

OCULAR-

LIDS-

• Madarosis
• Trichiasis
• Lagophthalmos

CONJ & SCLERA-

• Conjunctivitis
• Episcleritis
• Scleritis

CORNEA-

• Neurotrophic KP
• Cor anaesthesia
• Keratitis

UVEA-

• Acute iritis –d/t immune complex deposit
• Chronic iritis- d/t direct invasion

• Aq flare & cells
• Fine dust –like KPs
• Collection of lepra bacilli k/as- “ IRIS PEARLS “- adhere to papillary margin & iris surf like a necklace → Pearls slowly enlarge→ Coalesce → Pedunculated → Drop into AC→ disappear → iris atrophy → miosis

INV-

1. Skin biopsy
2. Skin test- Mitsuda reac

  T/T-

1. Trichiasis-

• Epilation
• Electrolysis-A fine electrocautery needle is passed down into the hair follicle & a current of 2 mAmp is passed
• Cryotherapy [ double freeze –thaw at -20 deg C]
• Argon laser ablation [ 50 µm. 0.2 sec, 1000mW]
• Surgery-Full-thickness wedge resection or Anterior lamellar excision

2. Lagophthalmos- Tarsorrhaphy
3. Episcleritis- Fluorometholone e/d qid

                     -oral NSAIDs

4. Scleritis- oral NSAIDS

                - oral steroids

                - Immunosuppressants- cyclophosphomide, azathioprine,cyclosporine

5. Conjunctivitis- antibiotic e/d or e/o

6.Keratitis- Cycloplegic-mydriatic

               -Analgesic

              -Antibiotic e/d

               -BSCL- for perforation → Tiss adhesive→       Therapeautic KP

7. Iritis- Topical mydriatic & steroid

8. Systemic-

T. Dapsone 100mg /day

Or T. Rifampicin [ 600mg]/ Clofazimin [100mg]

        VOGT KOYANAGI HARADA SYN

[J-05, D-01]

Also k/as Uveomeningeal syn

DEF-

Idiopathic multisystem disorder with granulomatous uveitis.

EPIDEMIOLOGY-

• BL
• 4-5th decade
• Females
• HLA-DR-4 & HLA-DW-15
• Pigmented race
• Asians [Japanese]

    VKH-

     VOGT –KOYANAGI- Skin + Ant uveitis

      HARADA – CNS + Exud RD

     C/F- 4 phases

1. Prodromal
2. Acute uveitic
3. Convalescent
4. Chronic recurrent

1. PRODROMAL PHASE-

CNS- Meningitis- Headache & neck stiffness

      -Encephalopathy-Convulsions, paresis & CN palsies

AUDITORY- Vertigo, deafness, tinnitus

2. ACUTE UVEITIC-

Anterior uveitis-

• AC cells
• KPs- small & large

           -Granulomatous

*  Iris nodules

*  Synechiae

Posterior uveitis-

*Exud RD

*  Dalen Fuch’s nodules

*  Sunset glow fundus (depigmented fundus)

*  NV

*  `Vitritis

*  H’age

* Edema- optic disc & macula

3. CONVALESECENT PHASE-

• Localised alopecia
• Poliosis
• Vitiligo
• Sunset glow fundus
• Depigmented limbal lesion- Sugiura’s sign

4. CHRONIC RECURRENT PHASE-

    Ant uveitis is more prominent.

• Mutton Fat KPs
• Koeppe nodules
• Post synechiae
• Gonioscopy-Depigmented CB

                       -NV in ac angle

Posterior uveitis-

• Retinal vasculitis
• Subretinal NV- H’age

   INV-

1. FFA- Dye leakage from RPE & accumulation in subret space- Hyperfluorescent dots
2. ICG- Choroidal NV
3. Ultrasound biomicroscopy-

• Narrow AC angle
• Thick choroid
• Thick sclera

4. CSF analysis-

• CSF Pleocytosis
• Increase CSF protein

    T/T-

1. Steroids-

• IV prednisolone 100-200mg/day for 1 week
• Oral steroids 40-80mg/day for 3 mo ( till FA shows absent leakage)
• Topical 0.1 % Dexamethasone 4-6 times/ day

2. Cycloplegic 2-4 times/ day for 3mo till AC cells clear

If  no response-

3. Immmunosuppressants

• Azathioprine 1-3 mg/kg/day
• Cyclophosphamide 1-3 mg/kg/day
• Cyclosporine 2.5 mg/kg/day

COMPLICATIONS-

1. Sec angle closure glauc
2. Subret NV
3. Exud RD

                 BEHCET’S DISEASE [J-02]

• Idiopathic
• Recurrent
• Multisystem dis
• Young men
• HLA-B-5
• 3rd-4th decade

Presents with aphthous ulcer.

MAJOR diagnostic criteria-

1. RECURRENT APHTHOUS ULCER-

• Painful
• Shallow
• Yellowish necrotic base

2. SKIN LESIONS-

• Erythema nodosum
• Subcutaneous thrombophlebitis
• Papulo-vesicular-pustular rash
• PATHERGY TEST- on puncturing the skin with a needle, a pustule appears
• DERMATOGRAPHISM-on stroking the skin corresponding lines appear.

3. RECURRENT GENITAL ULCERATION-

Penis & scrotum- males

Labia & vagina- females

4. UVEITIS-Both ant & post

MINOR Diagnostic criteria-

1. ARTHRITIS- Knees, ankles, sacroiliac jts
2. EPIDIDYMITIS
3. INTESTINAL ULCERATION
4. VASCULAR- obliterative thrombophlebitis & aneurysm
5. CNS- Brainstem syn

           -Meningoencephalitis

Complete Behcet;s dis- All 4 MAJOR criteria

Incomplete Behcet’s dis-

• 3 MAJOR
• 2 MAJOR + 2minor
• Uveitis + 1 MAJOR
• Uveitis + 2 minor

OCULAR-

• Episcleritis
• Keratoconjunctivitis
• Recurrent acute iritis with hypopyon
• Chr iridocyclitis
• Edema- ret, disc, macula
• Retinitis
• Periphlebitis
• Vitritis
• OA

T/T – Steroids

• Immunosuppressants

             DEMYELINATING DISEASES    [j-04]

MULTIPLE SCLEROSIS-

• Autoimmune dis
• Relapsing-remitting
• Adolescence-mid age
• 2F=M

PATHOLOGY-

• Focal inflamn
• Demyelination & gliosis or scarring
• Lesions are disseminated thru out the brain,so also k/as Disseminated sclerosis
• Selective demyelination with relative sparing of axons-hallmark
• PLAQUES- multiple grayish,sclerotic lesions scattered in the white matter-periventricular
• Medullary sheaths of the nerve fibres are specially attacked,axons being spared

C/F- OCULAR

• Retrobulbar neuritis-Hemianopic & quadrantic field changes
• OA
• Retinal venous sheathing
• Nystagmus [very imp sign]-horizontal,ataxic &increases on extreme lat gaze
• RAPD
• EO ms paralysis
• INO
• VI n Palsy

SYSTEMIC-

• Limb weakness
• Sensory loss
• Paraesthesia
• Vertigo
• Ataxia
• Lhermitte sign-A transient electric shock like sensation shooting down the spine into the legs induced by neck flexion
• CHARCOT’S TRIAD-SIN
• slurred speech
• intention tremors
• nystagmus

INV-M 3V 4AE

1. MRI- head & spine-periventricular plaques
2. CT-scan-perivascular & deep white matter lesions
3. Serum vit B12 levels
4. VDRL
5. ESR
6. Antinuclear antibody
7. Anti-DNA antibodies
8. Angiotensin converting enzyme
9. VEP
10. Automated perimetry

T/T-PIIP

1. Pulse IV methylprednisolone
2. Interferon –B1a or IFN-B1b
3. IV immunoglobins
4. Physiotherapy

NEUROMYELITIS OPTICA [DEVIC’S DISEASE ] [J-03]

• variant of MS-acute & violent form
• BL optic neuritis + Transverse myelitis
• Lumbar /dorsal myelitis

ACUTE DISSEMINATED ENCEPHALOMYELITIS [ADEM]

Young adults

• Fever,headache,drowsiness & convulsions
• EYE- Retrobulbar neuritis

           -Papillitis

           -OA

DIFFUSE PERIAXIAL ENCEPHALITIS [SCHILDER’S DIS]

• infancy & childhood
• Massive demyelination in the cerebral & cerebellar hemisphere f/b gliosis
• Systemic –deafness,psychosis,aphasia,UMN palsy,ataxia
• OCULAR-OccIpital lobe lesion-LOV

                    -Brainstem lesion-nystagmus,ocular palsies & papillary def

GIANT  CELL ARTERITIS

-Diag & T/T-[J-07]

DEF- Granulomatous necrotizing arteritis

-Predilection for- Superficial temporal A

                         -Ophthalmic A

                         -Posterior ciliary

                         -Proximal vertebral

-Severity is astd with the quantity of elastic tiss in the media & adventitia.

-Intracranial As [ little elastic tiss] are spared.

-7-8th decade

C/F-

• Scalp tenderness
• Headache-frontal ,occipital, temporal areas or generalized
• Jaw claudication-ischaemia of masseter
• Polymyalgia rheumatica-pain & stiffness in shoulders,worse in the morn & after exertion
• Occult arteritis-Sudden onset blindness with min systemic upset
• Superficial temporal arteritis-thick,tender,inflamed,nodular As.Pulsation is initially present,but later ceases [strongly suggestive of GCA].best location to palpate-in front of the pinna
• AION
• Rare- amaurosis fugax,CW spots,CRAO,cilioretinal A occlusion,pupil-sparing III n palsy,ocular ischaemic sy

INV-

1. ESR- > 60 mm/hr [not diagnostic]
2. C- reactive protein-raised [   “    ]-2.45mg/dl
3. Temporal A biopsy-

• Steroids shud never be withheld pending biopsy,which shud be ideally performed within 3 days of commencing steroids.Steroids after 7days impairs the nml histology response
• Ideal site- ipsilateral temple as it avoids damage to auriculotemporal N
• Atleast 2.5cm of the A shud be taken & serial sections examined b/o the phenomenon of ‘skip lesions’: segments of histologically normal arterial wall alternate with seg of granulomatous inflamn

Rx-

• IV Methyl prednisolone 1g/day  for 3 days + oral prednisone 80mg/day
• After 3 days oral dose is reduced to 60mg & then 50mg for 1 week each
• Daily dose is reduced by 5mg  weekly until 10mg is reached
• Maintenance daily dose-10mg
• T/t is reqd for 1-2 years
• Azathioprine