Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia

Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia

We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the PDE6C gene, a...

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Bibliographic Details
Main Authors: Carolina Madeira, Gonçalo Godinho, Ana Grangeia, Manuel Falcão, Renato Silva, Ângela Carneiro, Elisete Brandão, Augusto Magalhães, Fernando Falcão-Reis, Sérgio Estrela-Silva
Format: Article
Language:English
Published: Karger Publishers 2021-09-01
Series:Case Reports in Ophthalmology
Subjects:
pde6c gene
achromatopsia
multimodal imaging
Online Access:https://www.karger.com/Article/FullText/512284

Internet

https://www.karger.com/Article/FullText/512284

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