VON HIPPEL LINDAU SYNDROME

 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)