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

To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel variant. Case report. A 63-year-old female with molecularly confirmed SCA14 presented with symmetric pigmentary disturbances in a perifoveal distribution resembling a pattern macul...

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Bibliographic Details

Published in:	Ophthalmic genetics Vol. 45; no. 4; pp. 1 - 412
Main Authors:	Chen, Tugche S, Sheri, Narin, Ehmann, David S, Benson, Matthew D
Format:	Journal Article
Language:	English
Published:	England 03-07-2024
Subjects:	PRKCG spinocerebellar ataxia type 14 pattern dystrophy PRPH2 Macular dystrophy
Online Access:	Get full text
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