Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

ABSTRACT:

Purpose

To characterize in detail the phenotype and genotype of patients with pericentral retinal degeneration (PRD).

Methods

Patients were screened for an annular ring scotoma ranging from 3° to 40° (n = 28, ages 24-71) with kinetic perimetry. All patients had pigmentary retinopathy in the region of the dysfunction. Further studies included cross-sectional and en face imaging, static chromatic perimetry, and electroretinography. Molecular screening was performed.

Results

Genotypes of 14 of 28 PRD patients were identified: There were mutations in eight different genes previously associated with autosomal dominant or autosomal recessive RDs. Kinetic fields monitored in some patients over years to more than a decade could be stable or show increased extent of the scotom

SUBMITTER: Matsui R 

PROVIDER: S-EPMC4585343 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature