Retinal hemangioblastoma in a patient with Von Hippel-Lindau disease: A case report and literature review.

ABSTRACT:

Background

Retinal hemangioblastoma (RH) is a rare benign tumor and a considerable number of which are caused by Von Hippel-Lindau disease (VHL). Herein, we described a case of VHL-associated RH with retinal detachment who underwent both laser photocoagulation and vitreoretinal surgery and received satisfactory visual recovery. In addition, we reviewed the current diagnosis, genotype-phenotype association, and treatment of VHL-associated RH.

Case description

A 34-year-old woman presented with vision loss in the right eye at our hospital. Fundus photography and angiography showed retinal detachment and multiple large hemangiomas in the right eye. The visual acuity improved significantly after laser photocoagulation and vitreoretinal surgery. Genetic analyses showed a p.Asn78S

SUBMITTER: Huang Y 

PROVIDER: S-EPMC9667117 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature