PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

ABSTRACT:

Purpose

Genetic variation in PDE6C is associated with achromatopsia and cone dystrophy, with only a few reports of cone-rod dystrophy in the literature. We describe two pediatric and two adult patients with PDE6C related cone and cone-rod dystrophy and the first longitudinal data of a pediatric patient with PDE6C-related cone dystrophy.

Methods

This cohort of four patients underwent comprehensive ophthalmologic evaluation at the National Eye Institute's Ophthalmic Genetics clinic, including visual field testing, retinal imaging and electroretinogram (ERG). Next-generation sequencing-based genetic testing was performed and subsequent analysis of the variants was done through three-dimensional protein models generated by Phyre2 and Chimera.

Results

All cases shared decr

SUBMITTER: Daich Varela M 

PROVIDER: S-EPMC7545085 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature