Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.

ABSTRACT:

Purpose

To describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated with severe visual impairment in women.

Methods

Comprehensive ophthalmological examination including spectral domain optical coherence tomography (SD-OCT) was performed. Based on the pedigree structure and women being severely affected, autosomal dominant inheritance was suspected, and screening for known mutations by genotyping microarray was performed. Subsequently, direct sequencing of ORF15 RPGR was undertaken.

Results

Eighteen family members (nine women and nine men) were examined. A pathogenic variant, c.2543del in ORF15 of RPGR, was found to segregate with disease. The oldest woman and her two sist

SUBMITTER: Kousal B 

PROVIDER: S-EPMC4169777 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature