Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

ABSTRACT:

Importance

For patients with X-linked retinitis pigmentosa and clinicians alike, phenotypic variability can be challenging because it complicates counseling regarding patients' likely visual prognosis.

Objective

To evaluate the clinical findings from patients with X-linked retinitis pigmentosa with 13 distinct RPGR mutations and assess for phenotypic concordance or variability.

Design

Retrospective medical record review of data collected from 1985 to 2011.

Setting

Kellogg Eye Center, University of Michigan.

Patients

A total of 42 patients with X-linked retinitis pigmentosa with mutations in RPGR. Age at first visit ranged from 4 to 53 years, with follow-up ranging from 1 to 11 visits (median follow-up time, 5.5 years; range, 1.4-32.7 years, for 23 patien

SUBMITTER: Zahid S 

PROVIDER: S-EPMC4627494 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature