Introduction
A rare AD disease affecting the CNS and multiple organs.
- Mutations in tumour suppressor gene VHL. This leads to haemangiomas, which can be present in the retina.
- Is typically associated with benign vascular tumours of the retina, optic nerve
- Annual screening recommended for all VHL patients due to systemic manifestations
- Ocular examination may reveal an orange-red mass that may be associated with subretinal fluid, exudation or vitreoretinal fibrovascular proliferation.
Dead Giveaways
Fundus Examination:
The biggest giveaway is the retinal capillary haemangioma present
It is vision threatening in 50% of people
Can be multiple and bilateral
From retinal image bank. Looks like blood vessels entering a 2nd red optic disc
OCT:
Retinal thickening and intraretinal exudates can be present in macula
From Review of Ophthalmology
diagnostic features
Prognosis:
Is very variable. Depends on tumour size, location, macular involvement, presence of submacular fluid or tractional retinal detachment