Klin Monbl Augenheilkd 2008; 225 - R32
DOI: 10.1055/s-0028-1104713

Retinal angiomatosis

JJ De Laey 1
  • 1Dienst Oogheelkunde, Rijksuniversiteit van Gent

The first description of retinal angiomatosis is attributed to Magnus (1874). Von Hippel (1904) identified the tumour as a a haemangioblastoma, whereas Lindau (1927) noted the association with cerebellar cysts and proved the histological similarity of the cerebellar and retinal tumours. A retinal angioma can be defined as an angiomatous hamartoma. It may present as an isolated manifestation (von Hippel disease) or in association with cerebellar and/or visceral lesions (von Hippel-Lindau disease). A hereditary pattern may be found in 20–30% of the cases. The heredity is then autosomal dominant with almost complete penetrance but with variable espression. The disease is caused by a mutation in the VHL gene, a tumour suppressor gene, located at 3p25-p26 (Seizinger et al., 1991).

The retinal tumours may be isolated or multiple. Their evolution can be divided into 4 stages: 1. incipient lesion. 2. young angioma. 3. mature angioma. 4. complicated angioma. Untreated, the angioma will ultimately result in the loss of the eye.'The treatment depends on the size and location of the angioma. Angiomas not larger than 2 or 3 disc diameters and posterior to the equator can be treated with laser photocoagulation. Photodynamic therapie has also been used especially for angiomas situated at the optic disc. Larger lesions or lesions situated too anteriorly or complicated by retinal detachement may be treated by cryotherapy, or radioactive plaques. Vitreoretinal surgery is indicated in cases with massive fibroglial proliferation or exsudative retinal detachement. VEGF inhibitors have been used. They appear effective in reducing cystoid macular oedema but have little effect on the size of the angioma.

In von Hippel-Lindau disease, the manifestations are not limited to the eye. More than 25 different lesions have been identified. The most frequent are: retinal angiomas (53%), cerebellar haemangoblastomas (30%), medullary (4%) or spinal angiomas (4%), phaeochomocytoma (10%) and renal cell carcinoma (10%).

When dealing with an isolated case of retina angiomatosis a genetic study is mandatory. If a mutation is found in the VHL gene, not only the patient but also his family should be investigated as this is not only a potential sight threatening but also lethal disease. A close collaboration of ophthalmologists, geneticists, internists, neuroradiologists and neurosurgeons is of the utmost importance.