Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.

ABSTRACT:

Purpose

Here the authors describe the structural features of the retina and retinal pigment epithelium (RPE) in postmortem donor eyes of a 56-year-old patient with a homozygous missense RPE65 mutation (Ala132Thr) and correlate the pathology with the patient's visual function last measured at age 51.

Methods

Eyes were enucleated within 13.5 hours after death. Representative areas from the macula and periphery were processed for light and electron microscopy. Immunofluorescence was used to localize the distribution of RPE65, rhodopsin, and cone arrestin. The autofluorescence in the RPE was compared with that of two normal eyes from age-similar donors.

Results

Histologic examination revealed the loss of rods and cones across most areas of the retina, attenuated retinal v

SUBMITTER: Bonilha VL 

PROVIDER: S-EPMC3208160 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature