Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation.

ABSTRACT:

Background

Autosomal dominant retinitis pigmentosa (adRP) is a rare cause of progressive visual impairment in young patients and is frequently a result of RHO gene mutations. p.Thr58Arg rhodopsin mutation leads to misfolding of rhodopsin, subsequent accumulation in the endoplasmic reticulum, and leads to consecutive atrophy of photoreceptor cells through apoptosis.

Materials and methods

We describe multimodal imaging findings in a 58-year-old female with adRP due to a c.173 C > G, p.Thr58Arg rhodopsin mutation (confirmed on genotyping), including ultra-wide-field fundus autofluorescence (UWF-FAF), color scanning laser ophthalmoscopy, structural optical coherence tomography (OCT), OCT-angiography (OCT-A), electroretinography (ERG), and visual field testing (HVF). Additionally

SUBMITTER: Ruppert M 

PROVIDER: S-EPMC7969344 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature