Ocular manifestations of adult Niemann-Pick disease: a case report.
Niemann-Pick Disease Type B in a 33-year-old man is described. No family, racial or hereditary factors were noted in this case as in other reports in the literature. The ocular abnormalities in our patient were mild myopia, a mild generalized colour abnormality, and fundi showing a lipid ring-form opacity about the foveolas resulting in minimal visual impairment. Sphingomyelinase deficiency was found with the resulting deposition of phospholipid occurring most probably in the Müller cell. No neurological features were present and the patient was otherwise well.
D000328:Adult; D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology; D003118:Color Perception; D004594:Electrophysiology / Q000379:methods; D005123:Eye / Q000473:pathology*; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000097:blood / Q000473:pathology / Q000503:physiopathology*; D013154:Spleen / Q000473:pathology; D014786:Vision Disorders / Q000209:etiology; D014794:Visual Fields