Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency

Abstract

A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy.

Atypical Gyrate Atrophy of the Choroid and Retina Associated With Iminoglycinuria

“…The fundus changes seen in our patient were similar to those de¬ scribed as "slightly atypical gyrate atrophy without hyperornithinemia" by Deutman et al 13 However, the authors did not mention whether their patient had iminoglycinuria.…”

Reticular dystrophy of the retinal pigment epithelium and choroidal neovascularization A fluorescein and ICGV study

“…It has been reported in several conditions like pattern dystrophy, gyrate atrophy (Deutman et al 1978), chronic progressive external ophthalmoplegia (Bastiaensen 1978), myotonic dystrophy (Hayasaka et al 1984), pseudoxanthoma elasticum (McDonald et al 1988) mucopolysaccharidoses type 11 (Delleman et al 1985), and age-related macular degeneration (Gass 1973). It has been reported in several conditions like pattern dystrophy, gyrate atrophy (Deutman et al 1978), chronic progressive external ophthalmoplegia (Bastiaensen 1978), myotonic dystrophy (Hayasaka et al 1984), pseudoxanthoma elasticum (McDonald et al 1988) mucopolysaccharidoses type 11 (Delleman et al 1985), and age-related macular degeneration (Gass 1973).…”

Gyrate atrophy of the choroid and retina

“…Deficient activity of this enzyme (L-ornithine: 2-oxoacid aminotransferase, E.C. 2.6.1.13) has been demonstrated in liver (46), cultured skin fibroblasts (7,23,24,(33)(34)(35)(36)(37)49) and stimulated lymphocytes (21,51) from patients with gyrate atrophy. OKT deficiency is considered to be the primary defect in this autosomal recessive disease.…”