Severe retinal degeneration in females with c.2543del mutation in the RPGR gene

Abstract

AbstractPurpose To describe the genotype‐phenotype correlation and serial observations in a five‐generation Czech family with retinitis pigmentosa (RP) associated with total blindness in females.Methods Comprehensive ophthalmological examination was performed in sixteen family members (nine females and seven males). Autosomal dominant inheritance was suspected and screening for known mutations by genotyping microarray was performed. Next, direct sequencing of ORF15 RPGR exon was undertaken.Results The c.2543delA, in ORF15 of the RPGR gene was detected. Three females became bilaterally totally blind in the sixth decade. Four examined females and five males showed pigmentary deposits, progressive visual field constriction, moderate to high myopia and myopic astigmatism. Three other females had moderate to high myopia and myopic astigmatism but without the presence of bone spicule formation. Only one 34 year old female carrier had clinically normal fundus findings.Conclusion The c.2543delA in RPGR is associated with severe phenotype in females in the studied family. The presence of refractive errors, especially high myopia and astigmatism in the absence of male to male transmission may be indicative of an X‐linked inheritance.