Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family.

ABSTRACT:

Background

Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis.

Results

We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological

SUBMITTER: Szell N 

PROVIDER: S-EPMC7825233 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature