Which ocular condition is associated with Von Hippel Lindau disease?

Von Hippel-Lindau disease is a genetic disorder characterized by the formation of tumors and cysts in various parts of the body, including the eyes. The most notable ocular manifestation associated with this condition is retinal capillary hemangioma. These are benign vascular tumors that can develop in the retina, leading to potential vision complications, including retinal detachment and hemorrhages.

Retinal capillary hemangiomas are specifically linked to the VHL gene mutation and can appear in clusters, which is a hallmark of the disease. They may be asymptomatic in the early stages but can cause significant issues if they progress. This association between retinal capillary hemangiomas and Von Hippel-Lindau disease underscores the need for regular eye examinations and monitoring in affected individuals to manage the risk of severe ocular complications.

In contrast, while optic nerve gliomas may be associated with other genetic conditions like neurofibromatosis, they are not a recognized feature of Von Hippel-Lindau disease. Caffe au lait spots are typically associated with neurofibromatosis as well and are not related to VHL. Acoustic neuromas are linked to vestibular schwannomas and also do not have a direct association with Von Hippel-Lindau disease