Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
J Pediatr Ophthalmol Strabismus
PMID:Ocular abnormalities in chronic familial hyperphosphatasemia. 625 Nov 95