Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.

ABSTRACT:

Purpose

Enhanced S Cone Syndrome is a rare autosomal recessive disorder characterized clinically by an absence of rod function, a replacement of most L and M cone function by S cone activity (Goldmann-Favre Syndrome) and by variable degrees of retinal degeneration in different families. The causative gene, nuclear receptor subfamily 2, group E, member 3 (NR2E3), controls the developmental sequence for rods and cones. The purpose of this study was to compare the nature and implications of mutations in two subjects with Enhanced S Cone Syndrome who have significantly different degrees of degenerative damage.

Methods

A direct sequencing approach was used to identify the mutations. Genomic DNA was amplified from all the exons of NR2E3 and used as a template for sequencing. Of th

SUBMITTER: Udar N 

PROVIDER: S-EPMC3044695 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature