Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.

ABSTRACT:

Purpose

Achromatopsia is a rare stationary retinal disorder that primarily affects the cone photoreceptors. Individuals with achromatopsia present with photophobia, nystagmus, reduced visual acuity (VA), and color blindness. Multiple genes responsible for achromatopsia have been identified (e.g. cyclic nucleotide-gated channel subunit alpha 3 [CNGA3] and activating transcription factor 6). Studies have assessed the role of gene therapy in achromatopsia. Therefore, for treatment and prevention, the identification of phenotypes and genotypes is crucial. Here, we described the clinical manifestations and genetic mutations associated with achromatopsia in patients from Saudi Arabia.

Methods

This case series study included 15 patients with clinical presentations, suggestive of ac

SUBMITTER: Danish E 

PROVIDER: S-EPMC10752271 | biostudies-literature | 2023 Oct-Dec

REPOSITORIES: biostudies-literature