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Article

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

Molecular vision - 1 Jan 2018

López-Rubio Salvador, Chacon-Camacho Oscar F, Matsui Rodrigo, Guadarrama-Vallejo Dalia, Astiazarán Mirena C, Zenteno Juan C

Abstract excerpt

Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. Methods: Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included best-corrected visual acuity, electroretinography, Goldmann kinetic visual fields, and full-field...

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Identifiers

PMID: 29422768
PMCID: PMC5800431

Genes

ABCA4
ERG

Variants

Provenance

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