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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.

Histopathology and Functional Correlations in a Patient with a Mutation inRPE65, the Gene for Retinol Isomerase