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D. M. Wu, P. Atmaca-Sonmez, K. Branham, P. A. Sieving, A. Swaroop, S. P. Daiger, J. R. Heckenlively; Clinical Characterization With Long-Term Follow-Up of a Family With X-Linked Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3730.
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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.
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.
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.
The mutation in the RP3 exon ORF15 results in a retinitis pigmentosa phenotype that severely affects males and females.
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