Alkaptonuria
Alkaptonuria (Ochronosis; Garrod Syndrome) 41
General: Rare autosomal recessive metabolic disease; enzyme homogentisic acid oxidase missing; both sexes affected; onset in first few days of life; manifestations more severe in males.
Ocular: Pigmentation of cornea, sclera, and conjunctiva; ochronosis of sclera; oil globulation within Bowman membrane.
Clinical: Black-colored urine on standing; osteoarthritis; valvular heart disease; atherosclerosis (homogentisic acid oxidase deficiency); pigmentation of cartilage and other connective tissues.
Carlson DM, et al. Ocular ochronosis from alkaptonuria. J Optom Assoc 1991; 62:854-856.
Collins JF. Handbook of clinical ophthalmology. New York: Masson, 1982:246.
Garrod AF. About alkaptonuria. Lancet 1901; 2:1484-1486.
Kampik A, et al. Ocular ochronosis. Clinicopathological, histochemical, and ultrastructural studies. Arch Ophthalmol 1980; 98:1441-1447.
General: Rare autosomal recessive metabolic disease; enzyme homogentisic acid oxidase missing; both sexes affected; onset in first few days of life; manifestations more severe in males.
Ocular: Pigmentation of cornea, sclera, and conjunctiva; ochronosis of sclera; oil globulation within Bowman membrane.
Clinical: Black-colored urine on standing; osteoarthritis; valvular heart disease; atherosclerosis (homogentisic acid oxidase deficiency); pigmentation of cartilage and other connective tissues.
Carlson DM, et al. Ocular ochronosis from alkaptonuria. J Optom Assoc 1991; 62:854-856.
Collins JF. Handbook of clinical ophthalmology. New York: Masson, 1982:246.
Garrod AF. About alkaptonuria. Lancet 1901; 2:1484-1486.
Kampik A, et al. Ocular ochronosis. Clinicopathological, histochemical, and ultrastructural studies. Arch Ophthalmol 1980; 98:1441-1447.
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