Abstract
Purpose
To document the progression of disease in male and female members of a previously described family with X-linked dominant retinitis pigmentosa (RP) caused by a de novoinsertion after nucleotide 173 in exon ORF15 of RPGR.
Methods
The clinical records of 19 members of family UTAD054 were reviewed. Their evaluations consisted of confirmation of family history, standardised electroretinograms (ERGs), Goldmann visual fields, and periodic ophthalmological examinations over a 23-year period.
Results
Male members of family UTAD054 had non-recordable to barely recordable ERGs from early childhood. The males showed contracted central fields and developed more severe retinopathy than the females. The female members showed a disease onset delayed to teenage years, recordable but diminishing photopic and scotopic ERG amplitudes in a cone-rod pattern, progressive loss and often asymmetric visual fields, and diffuse atrophic retinopathy with fewer pigment deposits compared with males.
Conclusions
This insertion mutation in the RPGRexon ORF15 is associated with a RP phenotype that severely affects males early and females by 30 years of age, and is highly penetrant in female members. Families with dominant-acting RPGRmutations may be mistaken to have an autosomal mode of inheritance resulting in an incorrect prediction of recurrence risk and prognosis. Broader recognition of X-linked RP forms with dominant inheritance is necessary to facilitate appropriate counselling of these patients.
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Acknowledgements
This study was funded by the Foundation for Fighting Blindness; NIH EY007961. We thank James Friedman, Naheed Khan and Randall Wallach for their helpful discussion in the preparation of this article.
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Wu, D., Khanna, H., Atmaca-Sonmez, P. et al. Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye 24, 764–774 (2010). https://doi.org/10.1038/eye.2009.270
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DOI: https://doi.org/10.1038/eye.2009.270
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