Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.

ABSTRACT:

Importance

The patients evaluated in this study, to our knowledge, represent the first complete clinical description of a family with an autosomal dominant inheritance pattern of retinal dystrophy associated with a novel mutation in RAX2.

Objectives

To clinically evaluate 4 patients and 5 unaffected family members, characterize the disease phenotype over time, and identify the associated genetic mutation.

Design, setting, and participants

A prospective, longitudinal, observational, case-series analysis of 9 members of an affected family at the Casey Eye Institute, Oregon Health and Science University, Portland. The dates of the study were from July 31, 1992, to August 11, 2014.

Interventions

Clinical evaluations included eye examination, color fundus photograph

SUBMITTER: Yang P 

PROVIDER: S-EPMC7953203 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature