Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.

ABSTRACT:

Purpose

To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.

Design

Retrospective case series.

Methods

Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings.

Results

Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of i

SUBMITTER: Georgiou M 

PROVIDER: S-EPMC7772805 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature