Ocular abnormalities in chronic familial hyperphosphatasemia.
The ocular findings in two patients with Chronic Familial Hyperphosphatasemia are described in detail. They consist mainly of abnormal pigmentation, the presence of retinal folds of variable degree, and angioid streaks. It is suggested that these changes are in relationship to abnormal collagen metabolism and that CHF is not only a bone dysplasia but a more generalized condition with variable extraskeletal manifestations.
D000793:Angioid Streaks / Q000209:etiology; D002648:Child; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D010744:Phosphoric Monoester Hydrolases / Q000097:blood*; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012160:Retina / Q000473:pathology; D014792:Visual Acuity
D010744:Phosphoric Monoester Hydrolases