Pathology of iridectomy specimens in gyrate atrophy of the retina and choroid.
Gyrate atrophy of the retina and choroid is an autosomal recessive disease characterized by progressive retinal degeneration and ornithine aminotransferase deficiency. We report here the new histological findings and ultrastructural changes in 3 iridectomy specimens from 2 Finnish patients with gyrate atrophy. The iridectomy specimens were removed during routine cataract extraction and studied with a transmission electron microscope. The dilator muscle showed atrophy, abnormal mitochondria, and tubular aggregate type structures similar to those found in skeletal muscle. Degenerative changes such as extracted cellular matrix, dropout of cellular organelles, and dilated intercellular spaces were observed in the pigmented posterior epithelium and the anterior iris epithelium.
D000328:Adult; D001284:Atrophy; D001485:Basement Membrane / Q000648:ultrastructure; D002829:Choroid / Q000473:pathology*; D003593:Cytoplasm / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007498:Iris / Q000601:surgery / Q000648:ultrastructure*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D010857:Pigment Epithelium of Eye / Q000648:ultrastructure; D012160:Retina / Q000473:pathology*; D012162:Retinal Degeneration / Q000473:pathology; D000637:Transaminases / Q000172:deficiency*
D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase