Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa

Mutations in the retinol dehydrogenase 12 (RDH12) gene are primarily associated with Leber congenital amaurosis (LCA) type 13, a severe early onset autosomal recessive retinal dystrophy. Only one family with a heterozygous variant, associated with mild retinitis pigmentosa (RP), has been reported. W...

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Bibliographic Details
Main Authors: Hajrah Sarkar, Adam M. Dubis, Susan Downes, Mariya Moosajee
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Genetics
Subjects:
RDH12
autosomal dominant
retinitis pigmentosa
adaptive optics
Leber congenital amaurosis
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00335/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00335/full

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