Unilateral von-Hippel disease with optic nerve head

By Ana Hildago-Simón MD, PhD

NICE - A rare case of unilateral von-Hippel disease (Angiomatosis Retinae) involving the optic nerve head was one of many interesting posters displayed at this year's XX ESCRS Congress.

A 52-year-old male, without previous history of ophthalmic complaints, presented at the Eye Surgical Hospital, Damascus, Syria, in August 1999 with severe pain in his right eye.
The pain had started three months previously but a sudden reduction in visual acuity of the affected eye and spells of dizziness developed more recently.
The patient wasn't taking any medication, Diyaa Rachdan MD, CABO reported. The clinical examination revealed a normal left eye and very poor visual acuity (20/200) in the right eye which could not be corrected.
Although the anterior segment of the affected eye appeared normal, a mild afferent pupilary defect was also detected. Both lenses were clear.

The IOP was within normal limits (12 mm Hg and 14 mm Hg in the right and left eye, respectively) and the vitreous also appeared normal.
Fundus exploration of the affected eye showed a vascularised mass of about 3.0 mm in diameter originating in the optic disc and projecting into the vitreous.
Macular oedema was also present in that eye. Goldmann perimetry revealed a mild temporal suppression in the visual field of the affected eye.
Fluorescein angiography highlighted the mass. It was so vascularised that it leaked fluorescein into the vitreous during the process and until a late stage in the study, Dr Rachdan noted.

An Echo B scan and a CT scan confirmed the size and location of the mass. It appeared to be entirely contained within the right eye, and no involvement of any other area of the nervous system was detected. Full exploration of other organs and systems also proved negative.
The differential diagnostic of this case included optic nerve head glioma, astrocytoma, metastatic tumour and capillary haemangioma (von-Hippel disease).

Dr Rachdan and co-author Rida Said MD, Eye Surgical Hospital, Damascus, Syria, concluded that the most likely diagnosis for this case was capillary haemangioma or angiomatosis of the retina, also known as von-Hippel disease.
This is a type of phacomatosis generally asymptomatic until after the third decade of life. In this case, the vascular mass emerged from the nerve into the vitreous cavity, but in some others it grows within the optic nerve where it may result in an elevation of the optic disc.
"In those suffering from this rare disease, the retinal manifestations are often the first to be spotted. Because these lesions may be associated with other serious systemic lesions, it is of paramount importance to have regular screening of the whole body starting from the fellow eye," Dr Rachdan explained.

Angiomatosis retinae (von-Hippel disease and von Hippel-Lindau syndrome) has both a sporadic and a hereditary form which can be transmitted as autosomal dominant traits, often with variable expression and incomplete penetrance.
When a patient presents with one of these disorders, genetic counselling and screening of the relatives should be considered, he advised.

No treatment other than regular follow-up was established in this case.

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