Retinal pathology in the Kearns-Sayre syndrome.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • McKechnie, NM; King, M; Lee, WR

Published Date

  • January 1, 1985

Published In

Volume / Issue

  • 69 / 1

Start / End Page

  • 63 - 75

PubMed ID

  • 3965031

Pubmed Central ID

  • PMC1040525

International Standard Serial Number (ISSN)

  • 0007-1161

Digital Object Identifier (DOI)

  • 10.1136/bjo.69.1.63


  • eng

Conference Location

  • England