Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.

Autor:	Chen TS; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada., Sheri N; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada., Ehmann DS; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada., Benson MD; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada.
Jazyk:	angličtina
Zdroj:	Ophthalmic genetics [Ophthalmic Genet] 2024 Aug; Vol. 45 (4), pp. 409-412. Date of Electronic Publication: 2024 Feb 29.
DOI:	10.1080/13816810.2024.2321883
Abstrakt:	Purpose: To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel PRPH2 variant. Methods: Case report. Results: A 63-year-old female with molecularly confirmed SCA14 presented with symmetric pigmentary disturbances in a perifoveal distribution resembling a pattern macular dystrophy. She had no history of using medications with recognized toxic macular effects. Subsequent genetic testing confirmed a novel heterozygous missense variant of unknown significance in PRPH2 ( PRPH2 : c.694 G>A, p.(Ala232Thr)). Conclusions: To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with PRPH2 -related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.
Databáze:	MEDLINE
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