Gyrate atrophy (ornithine ketoacid aminotransferase deficiency)

General: Deficiency of the enzyme orn 818f51i ithine aminotransferase; autosomal recessive; chronic, progressive dystrophy; responsible human gene has been localized to chromosome 10.

Ocular: Chorioretinal atrophy; crystalline deposits associated with brown pigment in fundus; myopia; cataract; keratoconus; night blindness; constricted visual fields; axial hypermetropia; cobblestone-like peripheral lesions; blunting of ciliary processes; iris atrophy.

Clinical: Absence of enzyme ornithine ketoacid transaminase; elevated levels of amino acid ornithine in body fluids; seizures; abnormal electroencephalography; eosinophilic subsarcolemmal deposits are seen on muscle biopsy; massive cystinuria, and lysinuria; diabetes.

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Khan MY, et al. Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria. Eye 1994; 8[Pt 3]:247-248.

Wilson DJ, et al. Ocular clinicopathologic study of gyrate atrophy. Am J Ophthalmol 1991; 111:24-33.