Gyrate atrophy of the choroid and retina: ERG of the neural retina and the pigment epithelium.

The function of the neural retina and the pigment epithelium in 10 patients with gyrate atrophy was examined by the conventional alternating current electroretinogram and by direct current electroretinography to study the c-wave. The a- and b-wave responses were subnormal in all patients and the ERG was undetectable in patients with an advanced stage of the disease. The c-wave was recordable by the DC ERG from three patients with a less advanced stage of the disease.

Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.

Gyrate atrophy of the choroid and retina is an autosomal recessive, blinding human disease caused by a deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT). Since human OAT cDNA hybridizes to DNA sequences on both human chromosomes 10 and X, a locus coding for OAT enzyme activity may be present on one or both of these human chromosomes. We have used a series of mouse-human somatic cell hybrids, in combination with starch gel electrophoresis and a histochemical stain for OAT enzyme activity, to assign the structural gene for OAT to human chromosome 10.

Gyrate atrophy of the choroid and retina. The ocular disease progresses in juvenile patients despite normal or near normal plasma ornithine concentration.

Hyperornithinemia disappeared in three children with Gyrate atrophy of the choroid and retina during a low-arginine diet for 3 to 4 1/2 years. Because of the young age of the patients, we had an exceptional opportunity to follow the progression of the disease during this period. Despite the excellent biochemical control, electroretinographic changes progressed in two patients, and the chorioretinal atrophy progressed steadily in all the patients throughout the diet.

Progression of gyrate atrophy of the choroid and retina. A long-term follow-up by fluorescein angiography.

Fundus fluorescein angiograms of 21 gyrate atrophy patients were evaluated. In 16 of 21 patients between 2 to 13 angiograms were taken during the follow-up which extended from 1.6 to 13.

Gyrate atrophy of the choroid and retina. A five-year follow-up of creatine supplementation.

Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive chorioretinal degeneration with a 10-20-fold elevation of plasma ornithine due to deficient activity of ornithine aminotransferase. Type II fibres of the skeletal muscle are atrophic and contain tubular aggregates in electron microscopy. Deficient creatine and creatine phosphate formation have been postulated to be involved in the pathogenesis of GA.