Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.

ABSTRACT:

Purpose

To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function.

Methods

Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP.

Results

The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced r

SUBMITTER: Abdulridha-Aboud W 

PROVIDER: S-EPMC4860447 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature