Results 11 to 20 of about 1,021 (239)
Gyrate atrophy of the choroid and retina: a tertiary center experience [PDF]
Background Gyrate atrophy of the choroid and retina (GACR) is a rare amino acid metabolism disorder. Night blindness, cataracts, vision loss, and impaired cognitive functions can be seen.
Ekin Özsaydı Aktaşoğlu +6 more
doaj +2 more sources
Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy [PDF]
Introduction. Gyrate atrophy is a rare genetical metabolic disorder affecting vision. Here, we report a 9-year-old boy with gyrate atrophy associated with bilateral macular edema at the time of diagnosis and the effect of long term metabolic control on ...
Sibel Doguizi +3 more
doaj +2 more sources
Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis
Gyrate atrophy of choroid and retina is an autosomal recessive condition characterized by peripheral multiple sharp areas of chorioretinal atrophy which become confluent with age.
Koushik Tripathy +3 more
doaj +2 more sources
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina [PDF]
The deficit of human ornithine aminotransferase (hOAT) is responsible for gyrate atrophy (GA), a rare recessive inherited disorder. Although more than 60 disease-associated mutations have been identified to date, the molecular mechanisms explaining how ...
Riccardo Montioli +6 more
doaj +2 more sources
Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia [PDF]
Thomas P Moloney,1 Stephen O’Hagan,1 Lawrence Lee2,3 1Department of Ophthalmology, Cairns Hospital, Cairns, QLD, Australia; 2City Eye Centre, Brisbane, QLD, Australia; 3Associate Professor of Ophthalmology, School of Medicine, University of ...
Moloney TP, O’Hagan S, Lee L
doaj +2 more sources
Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child
Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase resulting in progressive ...
Nguyen Minh-Phu +4 more
doaj +2 more sources
Gyrate atrophy of the choroid and retina
Gyrate atrophy of the choroid and retina is characterized by autosomal recessive inheritance, progressive chorioretinal atrophy beginning in late childhood, and hyperornithinemia with ornithinuria caused by deficient ornithine aminotransferase ...
A Hasanoğlu, G Biberoğlu, L Tümer
doaj +3 more sources
We report a patient with gyrate atrophy, a rare metabolic disease, who had bilateral late spontaneous posterior dislocation of in-the-bag posterior chamber intraocular lens (PCIOL). He underwent pars plana vitrectomy, PCIOL retrieval and anterior chamber
Michael Kinori +2 more
doaj +2 more sources
Gyrate atrophy of the choroid and retina
A rare case of gyrate atrophy of the choroid and retina is reported in two female siblings. The diagnosis was made on clinical, electrophysiological, angiographic and biochemical features.
Verma Lalit +3 more
doaj +2 more sources
Raghulnadhan Ramanadhane +4 more
doaj +2 more sources

