Google Share on Facebook (redirected fromgyrate atrophy) Thesaurus Medical Encyclopedia gy·rate (jī′rāt′) intr.v.gy·rat·ed,gy·rat·ing,gy·rates 1.To revolve around a fixed point or axis. 2.To move in a spiral or spirallike course. See Synonyms atturn. ...
Background: Gyrate atrophy of the retina and choroid is a rare autosomal recessive inherited disease, characterized by progressive chorioretinal atrophy that results in progressive deterioration of peripheral and night vision and leads to blindness. This report presents a case of a 28-year-old ...
A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye. Mutations in the OAT gene show a high degree of molecular heterogeneity in GA,...
Low Protein Intake in the Management of Gyrate Atrophy of the Choroid and Retina with Hyperornithinemia: 12 Years of Follow-upLow Protein Intake in the Management of Gyrate Atrophy of the Choroid and Retina with Hyperornithinemia: 12 Years of Follow-upeye diseases, protein intake, case studies...
GA is an autosomal recessive disease characterized by progressive atrophy of the choroid and retina starting by age 5-9 years, and atrophy and formation of tubular aggregates in type I muscle fibers. Plasma ornithine concentration is 10-20 times increased. To quantitate in GA the efficiency of ...
Eye funduscopy showed regions of confluent rounded chorioretinal atrophy. The visual field, the electroretinogram and the retinal angiography were all alterated. Gyrate atrophy of the retina and choroid was evocated.It is a systemic and rare metabolic disease where ocular features are dominating. ...
Gyrate AtrophyRetinal PerforationsDisease ProgressionTomography, Optical CoherenceAdultMaleEye is the official journal of the Royal College of Ophthalmologists. It aims to provide the practising ophthalmologist with information on the latest clinical and laboratory-based research....
At the last follow-up, the vitreous hemorrhage of right eye had resolved with an improvement in visual acuity and left eye remained stable with 6/12. Conclusion: Our patient is a rare case of gyrate atrophy presented with vitreous hemorrhage and nonsense OAT gene mutation, inherited in the ...
Background: Gyrate Atrophy (GA) is a rare autosomal recessive disorder characterized by progressive chorioretinal degeneration. It is caused due to mutations in OAT gene that encodes a defective ornithine-delta-aminotransferase enzyme. We aim to identify the molecular cause of the disease and ...
Journal of Inherited Metabolic DiseaseTada K, Saito T, Hayasaka S, et al. Hyperornithinemia with gyrate atrophy: pathophysiology and treatment. J Inherit Metab Dis 1983;6: 105–106.Tada K, Saito T, Hayasaka S, Mizuno K (1983) Hyperornithinaemia with gyrate atrophy: pathophysiology and ...