Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.

ABSTRACT:

Background and objectives

Previous studies of X-linked Alport syndrome demonstrated that "severe" COL4A5 mutations (large deletions and rearrangements, nonsense and frame-shift mutations, and glycine substitutions in the carboxy-terminal residues) were associated with early-onset renal failure, hearing loss, and lenticonus in affected male patients. This study examined whether severe mutations also resulted in the typical perimacular dot-and-fleck retinopathy.

Design, setting, participants, & measurements

Twenty unrelated families with X-linked Alport syndrome were studied for the causative mutation in the COL4A5 gene. Nineteen affected male and 22 affected female individuals aged at least 14 yr from these families were examined for clinical and, in particular, ophthalmologi

SUBMITTER: Tan R 

PROVIDER: S-EPMC2801648 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature