Retinal Pathology in the Kearns-Sayre Syndrome

Overview

Journal Br J Ophthalmol

Specialty Ophthalmology

Date 1985 Jan 1

PMID 3965031

Citations 16

Authors

N M McKechnie

M King

W R Lee

Affiliations

Soon will be listed here.

Abstract

Examination of the retinal tissues obtained at necropsy from a 14-year-old boy with Kearns-Sayre syndrome showed marked photoreceptor and pigment epithelial cell loss in the retinal periphery and around the optic nerve head. Electron microscopy of surviving retinal pigment epithelial (RPE) cells indicated a loss of apical microvilli and basal infoldings. The RPE was unusually devoid of melanosomes and showed no evidence of phagocytosis of photoreceptor debris. The cytoplasm of the RPE contained numerous, often enlarged, mitochondria. These structural changes suggested that a breakdown in the energy dependent interrelationships between the RPE and the photoreceptor layer was responsible for the outer retinal degeneration. The finding of numerous macrophages in the subretinal space suggests a secondary inflammatory component in the retinal degeneration.

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