Clinical Characterization With Long-Term Follow-Up of a Family With X-Linked Dominant Retinitis Pigmentosa

Abstract

Purpose:: To characterize the phenotype and document the progression of disease in male and female members of a family with X-linked dominant retinitis pigmentosa caused by a de novo insertion at codon 173 resulting in nine novel amino acids and truncation of the protein product in the RP3 (RPGR) exon ORF15.

Methods:: The clinical records of 19 members of family UTAD054 were reviewed. Their evaluations consisted of confirmation of the family history, standardized electroretinograms (ERGs), Goldmann visual fields, and ophthalmological examinations.

Results:: Male members of family UTAD054 had nonrecordable to barely recordable ERGs from early childhood. The males show contracted central fields and developed more severe retinopathy. Female members show a delayed disease onset to teenage years, recordable but diminishing photopic and scotopic electroretinogram amplitudes in a cone-rod pattern, progressive decreasing and often asymmetric visual fields, and a diffuse atrophic retinopathy with less pigment deposits compared to males.

Conclusions:: The mutation in the RP3 exon ORF15 results in a retinitis pigmentosa phenotype that severely affects males and females.

Keywords: retinal degenerations: hereditary