Results 21 to 30 of about 109,135 (259)

Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina [PDF]

Frontiers in Molecular Biosciences, 2021
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, Giada Sgaravizzi, Maria Andrea Desbats, Silvia Grottelli, Carla Borri Voltattorni, Leonardo Salviati, Barbara Cellini   +6 more
doaj   +2 more sources

Gyrate atrophy of the choroid and retina: a case report [PDF]

The Turkish Journal of Pediatrics, 2011
Gyrate atrophy is a rare metabolic disease characterized by hyperornithinemia, typical retinal and choroidal lesions, high myopia with marked astigmatism, early cataract formation, and autosomal recessive inheritance pattern.
Nesrin Büyüktortop, Mehmet Numan Alp, Serap Sivri, Turgay Coşkun, Gülcan Kural   +4 more
doaj   +2 more sources

Gyrate atrophy of the choroid and retina

Indian Journal of Ophthalmology, 1989
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, Murthy Hemant, Tewari H, Khosla P   +3 more
doaj   +2 more sources

Gyrate atrophy: A photo essay

Indian Journal of Ophthalmology. Case Reports, 2023
Raghulnadhan Ramanadhane, Debmalya Das, Surabhi Chattree, Rupak Roy, Bikramjit P Pal   +4 more
doaj   +2 more sources

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy [PDF]

Journal of Ophthalmic & Vision Research
Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients show a high level of ornithine in body fluids which may
Samira Molaei Ramshe, Safoura Zardadi, Elham Alehabib, Ramin Nourinia, Javad Jamshidi, Mohsen Soosanabadi, Hossein Darvish   +6 more
doaj   +2 more sources

Genetic testing for gyrate atrophy of the choroid and retina

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR).
Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Benedetto Falsini, Bertelli Matteo   +5 more
doaj   +2 more sources

Three siblings with gyrate atrophy of the choroid and retina: a case report [PDF]

International Journal of Ophthalmology, 2023
Maamouri Rym, Ferchichi Molka, Ben Chehida Amel, Hadj-Taieb Sameh, Cheour Monia   +4 more
doaj   +2 more sources

Bilateral macular hole in gyrate atrophy: A rare association [PDF]

Indian Journal of Ophthalmology, 2020
Deepika C Parameswarappa, Komal Agarwal
doaj   +2 more sources

Possible role of polyamines in gyrate atrophy.

Indian Journal of Ophthalmology, 2000
PURPOSE: Gyrate atrophy (GA) is marked by hyperornithinemia and lowered ornithine amino transferase (OAT). However there are patients of GA without hyperornithinemia and those with hyperornithinemia without GA. Some cases of GA have been reported to have
Sulochana Konerirajapuram, Ramakrishnan Sivaramakrishnan, Mahesh Lakshmi, Punitham Ranganathan   +3 more
doaj   +1 more source

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy [PDF]

Ophthalmic Genetics, 2018
Stephen H Tsang, Karen Park, Ruben Jáuregui   +2 more
exaly   +2 more sources