RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.

ABSTRACT:

Purpose

To examine the genetic and clinical features and the natural history of RBP3-associated retinopathy.

Design

Multi-center international, retrospective, case series of adults and children, with moleculraly confirmed RBP3-asociated retinopathy.

Methods

The genetic, clinical, and retinal imaging findings, including optical coherence tomography (OCT) and fundus autofluorescence (FAF), were investigated both cross-sectionally and longitudinally. The results of international standard full-field electroretinography (ERG) and pattern electroretinography (PERG) were reviewed.

Results

We ascertained 12 patients (5 female and 7 male) from 10 families (4 patients previously reported). Ten novel disease-causing RBP3 variants were identified. Ten patients were homozyg

SUBMITTER: Georgiou M 

PROVIDER: S-EPMC11139644 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature