Homocystinuria syndrome 5

General: Rare disorder of amino acid metabolism; autosomal re 838f57i cessive inheritance; approximately one third of patients with this disorder have normal intelligence.

Ocular: Dislocated or subluxated lenses; spherophakia; cataract; retinal detachment; optic atrophy; keratitis; ocular hypotony; iris atrophy; uveitis; situs inversus optic disk; central retinal artery occlusion; high myopia; strabismus; pupillary block glaucoma; lens zonular fibers have abnormal glycoprotein with elevated concentration of cystine; ectopia lentis (nearly constant feature).

Clinical: Mental retardation; sparseness of hair; thromboembolism; arachnodactyly; generalized osteoporosis; thrombotic lesions of arteries and veins; abnormal cystathionine synthetase.

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