Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients

We genetically characterized 22 Swiss patients who had been diagnosed with Stargardt disease after clinical examination. We identified in 11 patients (50%) pathogenic bi-allelic <i>ABCA4</i> variants, c.1760+2T>C and c.4496T>C being novel. The dominantly inherited pathogenic <i&...

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Bibliographic Details
Main Authors: Virginie M.M. Buhler, Lieselotte Berger, André Schaller, Martin S. Zinkernagel, Sebastian Wolf, Pascal Escher
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
macula dystrophy
retinal degeneration
choroidal dystrophy
Stargardt disease
central areolar choroidal dystrophy
genetic analyses
Online Access:https://www.mdpi.com/2073-4425/12/6/812

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