Novel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.

ABSTRACT:

Purpose

To present new clinical features of juxtapapillary retinal capillary hemangiomas (JRCHs), assess the risk of von Hippel-Lindau (VHL) disease, and explore the genotype-phenotype correlations in patients with JRCH.

Methods

Fifty patients with JRCH were included. Multimodal retinal imaging including optical coherence tomography angiography (OCTA), visual acuity, presence of peripheral RCHs, affected lateralities, systemic evaluation for VHL disease, and underlying VHL variants were reviewed.

Results

Of 59 eyes, 48 had classic JRCHs, whereas 11 had atypical JRCHs (type B, if it broke through the inner limiting membrane: 3 eyes; type A, if not: 8 eyes). Compared with atypical type A, which was indolent, type B might warrant surgical interventions. Better final visu

SUBMITTER: Zhuang X 

PROVIDER: S-EPMC12007667 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature