A Sight-Threatening Genetic Disorder: A Rare Ocular Manifestation of Von Hippel-Lindau Syndrome
Year: 2025
Type: article
Study design: Case Report
Abstract: Von Hippel-Lindau (VHL) syndrome is a rare inherited genetic disorder caused by mutations in the VHL tumor suppressor gene on chromosome 3. It leads to the development of multiple benign and malignant tumors in various organs. This report details a rare case of ocular VHL syndrome in an 11-year-old girl. She presented with progressive vision loss in her right eye and a family history of blindness and brain tumors. On examination, her right eye showed almost total retinal detachment and severe vision impairment, while her left eye had multiple retinal hemangioblastomas with subretinal fluid but preserved visual acuity. The patient was diagnosed with VHL syndrome and treated with laser photocoagulation for the retinal hemangioblastomas. After several treatments, her vision in the left eye remained stable at the six-month follow-up. While VHL syndrome typically presents in late teens to early adulthood, this case highlights the importance of early diagnosis and continuous screening, especially given the condition's genetic nature and potential for multiorgan involvement.
Source: Cureus
DOI: 10.7759/cureus.97698
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4416679825