Results 211 to 220 of about 109,135 (259)
Some of the next articles are maybe not open access.
Inborn Errors of Metabolism: Gyrate Atrophy
Advances in Experimental Medicine and BiologyGyrate atrophy is autosomal recessive dystrophy in which night blindness starts in the first decade of life. Peripheral field loss usually begins in the second and third decades as the disease progresses. There is no gender predilection. It is commoner in Finland (1/50,000).
Stephen H Tsang
exaly +3 more sources
Gyrate atrophy of the choroid and retina
, 2013 Gyrate atrophy of the choroid and retina is an autosomal recessive chorioretinal dystrophy associated with separated chorioretinal atrophy areas in midperiphery retina and slowly progression. Gyrate atrophy causes hyperornithinemia secondary to the deficiency of ornithine aminotransferase activity.
Ilhan, NilÜfer +6 more
openaire +2 more sources
Gyrate atrophy of the choroid and retina
Postgraduate Medical Journal, 2021A 20-year-old high myope male was referred due to peripheral vision loss. Best-corrected visual acuity was 20/32 OD and 20/50 OS. On slit-lamp examination, mild bilateral posterior subcapsular cataract was observed. Peripheral areas of scalloped chorioretinal atrophy with macular sparing were identified on fundus examination (figure 1).
João Pedro Marques, Pedro Pereira
openaire +2 more sources
Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype
European Journal of Ophthalmology, 2023Introduction Gyrate atrophy (GA) is a rare retinal dystrophy due to biallelic pathogenic variants in the ornithine aminotransferase (OAT) gene, causing a 10-fold increase in plasma ornithine levels. It is characterized by circular patches of chorioretinal atrophy.
L. Pauleikhoff +6 more
openaire +4 more sources
Gyrate Atrophy of the Choroid and Retina: A Review
European Journal of Ophthalmology, 2021Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive genetic condition characterized by elevation of the plasma level of the amino acid ornithine due to deficiency of the enzyme ornithine ketoacid aminotransferase. Accumulation of ornithine occurs in various body tissues but leads primarily to characteristic ophthalmic ...
Ayman G. Elnahry, Gehad A. Elnahry
openaire +2 more sources
Experimental Model of Gyrate Atrophy in Animals
Ophthalmology, 1981Intravitreal injection of L-ornithine hydrochloride in physiologic saline solution caused marked edema specifically in the pigment epithelium of Sprague-Dawley strain albino and Evans black hooded rats and rhesus and cynomologus monkeys. Swelling of the pigment epithelial cells, which was most prominent four hours after the injection, disappeared by 24
T, Kuwabara +2 more
openaire +2 more sources
A Specific Enzyme Defect in Gyrate Atrophy
American Journal of Ophthalmology, 1978To establish the enzyme defect in gyrate atrophy, we measured the activity of ornithine aminotransferase in phytohemagglutinin stimulated lymphocytes in a patient with gyrate atrophy, her daughter, and three normal controls. The patient's cells had no detectable ornithine aminotransferase activity and the daughter's cells had 44% of control activity ...
M I, Kaiser-Kupfer +2 more
openaire +2 more sources
Gyrate Atrophy of the Choroid and Retina
Ophthalmologica, 2010A case of gyrate atrophy of choroid and retina is presented. The serum level of ornithine was 788 mumol/l. The clinical features, the error of metabolism, the inheritance and the treatment of the disease are discussed.
openaire +3 more sources