Mutations in NYX of individuals with high myopia, but without night blindness.

ABSTRACT:

Purpose

High myopia is a common genetic variant that severely affects vision. Genes responsible for myopia without linked additional functional defects have not been identified. Mutations in the nyctalopin gene (NYX) located at Xp11.4 are responsible for a complete form of congenital stationary night blindness (CSNB1). High myopia is usually observed in patients with CSNB1. This study was designed to test the possibility that mutations in the NYX gene might cause high myopia without congenital stationary night blindness (CSNB).

Methods

The genomic sequence of NYX in 52 male probands with high myopia but without CSNB was analyzed through direct DNA sequencing. Variations in the NYX were verified by analyzing available family members and 232 controls.

Results

Two unrela

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC2642916 | biostudies-literature | 2007 Mar

REPOSITORIES: biostudies-literature