NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.

Autor:	Tauscher RG; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois; and., Rahmani S; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois; and., Szymaniak BM; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Jampol LM; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois; and., Mirza RG; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois; and.
Jazyk:	angličtina
Zdroj:	Retinal cases & brief reports [Retin Cases Brief Rep] 2023 May 01; Vol. 17 (3), pp. 261-265.
DOI:	10.1097/ICB.0000000000001175
Abstrakt:	Purpose: To present the case of a family with a novel PRPH2/RDS mutation. Methods: A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation. Results: A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe cone-rod dystrophy. Genetic testing revealed the same novel PRPH2/RDS mutation in all three affected individuals, suggesting that this single mutation can produce at least two disparate retinal disease phenotypes. Conclusion: This case describes a novel p.Y225X nonsense mutation in the PRPH2/RDS gene and demonstrates that it is both pathologic and capable of significant phenotypic variability.
Databáze:	MEDLINE
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