title: Histopathology of the eye in Cockayne's syndrome.
abstract: The eyes of a 44-month-old boy with Cockayne's syndrome had retinal pigmentary abnormalities that included variable pigmentation and excessive lipofuscin deposition in the retinal pigment epithelium and unusual pigmented cells in the retina and subretinal space. There was optic nerve atrophy with loss of nerve fibers and myelin sheaths and also atrophy of the retinal nerve fiber and ganglion cell layers consistent with the histologic features of a demyelinating disease. Widespread pigment dispersion was found in the anterior segment. There was no evidence of vascular disorder, ocular calcification, neuronal storage disorder, or dystrophic corneal changes.
mesh_terms: D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000150:complications / Q000473:pathology*; D004392:Dwarfism / Q000473:pathology*; D005123:Eye / Q000473:pathology*; D006801:Humans; D008297:Male; D009900:Optic Nerve / Q000473:pathology; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012162:Retinal Degeneration / Q000209:etiology / Q000473:pathology