Works matching Gyrate atrophy of the choroid and retina

Results: 43

Gyrate Atrophy of the Choroid and Retina: A Review.

Published in:

European Journal of Ophthalmology, 2022, v. 32, n. 3, p. 1314, doi. 10.1177/11206721211067333

By:

Elnahry, Ayman G.;
Elnahry, Gehad A.

Publication type:

Article

Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer–Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3369, doi. 10.3390/ijms24043369

By:

Floriani, Fulvio;
Borri Voltattorni, Carla;
Cellini, Barbara;
Montioli, Riccardo

Publication type:

Article

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.

Published in:

European Journal of Ophthalmology, 2021, v. 31, n. 5, p. NP23, doi. 10.1177/1120672120921734

By:

Jalali, Hossein;
Najafi, Mojtaba;
Khoshaeen, Atefeh;
Mahdavi, Mohammad Reza;
Mahdavi, Mahan

Publication type:

Article

Koroid ve Retinanın Gyrate Atrofisi.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2013, v. 21, n. 3, p. 228

By:

İLHAN, Nilüfer;
KESKİN, Uğurcan;
İLHAN, Özgür;
TUZCU, Esra AYHAN;
AYINTAP, Emre;
DAĞLIOĞLU, Mutlu;
ÖKSÜZ, Hüseyin

Publication type:

Article

Retinal detachment and gyrate atrophy of the choroid and retina: case report.

Published in:

2012

By:

BERBEL, RODRIGO FABRI;
RAUEN, PAULO IGOR;
PALLONE, RAPHAEL FRANGIOTE;
CASELLA, ANTÔNIO MARCELO BARBANTE

Publication type:

Case Study

A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 11, p. 3589, doi. 10.1007/s00417-024-06540-8

By:

Balfoort, Berith M.;
Van Den Broeck, Filip;
Brands, Marion M.;
van Karnebeek, Clara D.;
Bergen, Arthur A.;
van den Born, L. Ingeborgh;
Houtkooper, Riekelt H.;
Wagenmakers, Margreet A. E. M.;
De Zaeytijd, Julie;
Leroy, Bart P.;
Boon, Camiel J. F.;
Diederen, Roselie M. H.

Publication type:

Article

Conjunctival Biopsies in Gyrate Atrophy of the Choroid and Retina.

Published in:

Ophthalmologica, 1984, v. 189, n. 4, p. 165, doi. 10.1159/000309406

By:

François †, J.;
Victoria-Troncoso, V.;
Vannas-Sulonen, K.;
Bohijn, W.

Publication type:

Article

Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia–clues to pathogenesis.

Published in:

European Journal of Clinical Investigation, 1999, v. 29, n. 5, p. 426, doi. 10.1046/j.1365-2362.1999.00467.x

By:

Heinänen;
Näntö-Salonen;
Komu;
Erkintalo;
Heinonen;
Pulkki;
Valtonen;
Nikoskelainen;
Alanen;
Simell;
Näntö-Salonen

Publication type:

Article

OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.

Published in:

Documenta Ophthalmologica, 2014, v. 128, n. 2, p. 137, doi. 10.1007/s10633-014-9426-1

By:

Katagiri, Satoshi;
Gekka, Tamaki;
Hayashi, Takaaki;
Ida, Hiroyuki;
Ohashi, Toya;
Eto, Yoshikatsu;
Tsuneoka, Hiroshi

Publication type:

Article

Biochemical Studies on Human Ornithine Aminotransferase Support a Cell-Based Enzyme Replacement Therapy in the Gyrate Atrophy of the Choroid and Retina.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7931, doi. 10.3390/ijms25147931

By:

Pampalone, Gioena;
Chiasserini, Davide;
Pierigè, Francesca;
Camaioni, Emidio;
Orvietani, Pier Luigi;
Bregalda, Alessandro;
Menotta, Michele;
Bellezza, Ilaria;
Rossi, Luigia;
Cellini, Barbara;
Magnani, Mauro

Publication type:

Article

GYRATE ATROPHY OF CHOROID AND RETINA AND INVERSE RETINITIS PIGMENTOSA IN THE SAME PATIENT.

Published in:

Acta Ophthalmologica (1755375X), 1957, v. 35, n. 1, p. 26, doi. 10.1111/j.1755-3768.1957.tb05869.x

By:

Ohrt, Vagn

Publication type:

Article

Cistoidni edem makule kod giratne atrofije žilnice i mrežnice u sklopu hiperornitinemije - prikaz slučaja.

Published in:

Medicina Fluminensis, 2019, v. 55, n. 2, p. 179, doi. 10.21860/medflum2019_218805

By:

Delić, Martina Galiot;
Mandić, Jelena Juri;
Jukić, Tomislav;
Perić, Sanja;
Juratovac, Zlatko;
Ivkić, Petra Kristina

Publication type:

Article

Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 229, doi. 10.1002/humu.22233

By:

Doimo, Mara;
Desbats, Maria Andrea;
Baldoin, Maria Cristina;
Lenzini, Elisabetta;
Basso, Giuseppe;
Murphy, Elaine;
Graziano, Claudio;
Seri, Marco;
Burlina, Alberto;
Sartori, Geppo;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

Article

Gyrate atrophy of the choroid and retina.

Published in:

2022

By:

Pedro Marques, João;
Pereira, Pedro;
Marques, João Pedro

Publication type:

journal article

Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 6, p. 759, doi. 10.1080/13816810.2018.1536220

By:

Elnahry, Ayman G.;
Hassan, Fatma K.;
Abdel-Kader, Ahmed A.

Publication type:

Article

Gyrate atrophy of the choroid and retina in a 5-year-old girl.

Published in:

Acta Ophthalmologica (1755375X), 1991, v. 69, n. 6, p. 810, doi. 10.1111/j.1755-3768.1991.tb02067.x

By:

Mehta, Mehul C.;
Katsumi, Osamu;
Shih, Vivian E.;
Hirose, Tatsuo

Publication type:

Article

Gyrate Atrophy of the Choroid and Retina.

Published in:

Ophthalmologica, 1979, v. 178, n. 6, p. 311, doi. 10.1159/000308842

By:

François, J.

Publication type:

Article

Gyrate Atrophy of the Choroid and Retina With Cystoid Macular Edema and Unilateral Optic Disc Drusen.

Published in:

2015

By:

Goel, Neha;
Pooja Jain;
Arora, Supriya;
Ghosh, Basudeb;
Walton, David S.

Publication type:

Case Study

Hyperornithinaemia with gyrate atrophy of the choroid and retina in two siblings.

Published in:

1980

By:

Hodes, D T;
Oberholzer, V G;
Mushin, A S;
Briddon, A;
Laurance, B M

Publication type:

journal article

Hyperornithinaemia with gyrate atrophy of the choroid and retina in two siblings.

Published in:

Journal of the Royal Society of Medicine, 1980, v. 73, n. 8, p. 588, doi. 10.1177/014107688007300812

By:

Hodes, D. T.;
Oberholzer, V. G.;
Mushin, A. S.;
Briddon, A.;
Laurance, B. M.

Publication type:

Article

Progression of gyrate atrophy of the choroid and retina.

Published in:

Acta Ophthalmologica (1755375X), 1987, v. 65, n. 1, p. 101, doi. 10.1111/j.1755-3768.1987.tb08499.x

By:

Vannas-Sulonen, Kaarina

Publication type:

Article

Differential diagnosis of normoornithinaemic gyrate atrophy of the choroid and retina.

Published in:

Acta Ophthalmologica (1755375X), 1986, v. 64, n. 4, p. 369, doi. 10.1111/j.1755-3768.1986.tb06937.x

By:

Bargum, Ralph

Publication type:

Article

A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina: A case report.

Published in:

Acta Ophthalmologica (1755375X), 1985, v. 63, n. 2, p. 155, doi. 10.1111/j.1755-3768.1985.tb01528.x

By:

Mishima, Hiromu;
Hirata, Hisao;
Ono, Hideyuki;
Choshi, Kanji;
Nishi, Yoshikazu;
Fukuda, Kiyotaka

Publication type:

Article

PATHOLOGY OF IRIDECTOMY SPECIMENS IN GYRATE ATROPHY OF THE RETINA AND CHOROID.

Published in:

Acta Ophthalmologica (1755375X), 1983, v. 61, n. 1, p. 9, doi. 10.1111/j.1755-3768.1983.tb01389.x

By:

VANNAS-SULONEN, KAARINA;
VANNAS, ANTTI;
O'DONNELL, JAMES J.;
SIPILÄ, ILKKA;
WOOD, IRMGARD

Publication type:

Article

Gyrate atrophy of the choroid and retina: a case report.

Published in:: Turkish Journal of Pediatrics, 2011, v. 53, n. 1, p. 94
Publication type:: Article

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12842

By:

Balfoort, Berith M.;
Van den Broeck, Filip;
Boon, Camiel J. F.;
Brouwers, Martijn C. G. J.;
Diederen, Roselie M. H.;
Dhillon, Preet;
Ten Asbroek, Anneloor L.M.A.;
Bergen, Arthur A.;
Boon, Camiel J.F.;
Brands, Marion M.;
Buijs, Mark J.N.;
Diederen, Roselie M.H.;
Ferdinandusse, Sacha;
Houtkooper, Riekelt H.;
Van Karnebeek, Clara D. M.;
Schultink, Patrick;
Timmer, Corrie;
Vaz, Frédéric M.;
Wagenmakers, Margreet A.E.M.;
Wanders, Ronald J.A.

Publication type:

Article

Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: A twenty-six-year follow-up.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 187, doi. 10.1023/B:BOLI.0000028779.29966.05

By:

Santinelli, R.;
Costagliola, C.;
Tolone, C.;
D'Aloia, A.;
D'Avanzo, A.;
Prisco, F.;
Perrone, L.;
del Giudice, E.

Publication type:

Article

Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 855, doi. 10.1023/A:1005602405349

By:

Valtonen, M.;
Näntö-Salonen, K.;
Jääskeläinen, S.;
Heinänen, K.;
Alanen, A.;
Heinonen, O.;
Lundbom, N.;
Erkintalo, M.;
Simell, O.

Publication type:

Article

Creatine corrects muscle [sup 31]P spectrum in gyrate atrophy with hyperornithinaemia.

Published in:

European Journal of Clinical Investigation, 1999, v. 29, n. 12, p. 1060, doi. 10.1046/j.1365-2362.1999.00569.x

By:

Heinänen;
Näntö-Salonen;
Komu;
Erkintalo;
Alanen;
Heinonen;
Pulkki;
Nikoskelainen;
Sipilä;
Simell;
Näntö-Salonen, Kirsti

Publication type:

Article

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT.

Published in:

Genes, 2024, v. 15, n. 8, p. 1020, doi. 10.3390/genes15081020

By:

Ju, Yuqiao;
Zong, Yuan;
Li, Xiao;
Gao, Fengjuan;
Chang, Qing;
Huang, Xin

Publication type:

Article

Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia.

Published in:

2014

By:

Moloney, Thomas P.;
O'Hagan, Stephen;
Lee, Lawrence

Publication type:

Case Study

Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis.

Published in:

Oman Journal of Ophthalmology, 2016, v. 9, n. 2, p. 104, doi. 10.4103/0974-620X.184529

By:

Tripathy, Koushik;
Chawla, Rohan;
Sharma, Yog Raj;
Gogia, Varun

Publication type:

Article

Regression of treatment-resistant gyrate atrophy-associated intraretinal cystic spaces using long-term diet restriction: A case report.

Published in:

European Journal of Ophthalmology, 2023, v. 33, n. 3, p. NP1, doi. 10.1177/11206721221085868

By:

Elhusseiny, Abdelrahman M.;
Haseeb, Abid;
Elnahry, Ayman G.

Publication type:

Article

Morphologic characteristics of retinal degeneration induced by sodium iodate in mice.

Published in:

Current Eye Research, 2002, v. 25, n. 6, p. 373, doi. 10.1076/ceyr.25.6.373.14227

By:

Kiuchi, Katsuji;
Yoshizawa, Katsuhiko;
Shikata, Nobuaki;
Moriguchi, Kaei;
Tsubura, Airo

Publication type:

Article

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Published in:

Biochemia Medica, 2018, v. 28, n. 3, p. 1, doi. 10.11613/BM.2018.030801

By:

Zekušić, Marija;
Škaričić, Ana;
Fumić, Ksenija;
Rogić, Dunja;
Žigman, Tamara;
Ramadža, Danijela Petković;
Vukojević, Nenad;
Rüfenacht, Véronique;
Uroić, Valentina;
Barić, Ivo

Publication type:

Article

Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report.

Published in:

2018

By:

Zhioua Braham, Imène;
Ammous, Imen;
Maalej, Rim;
Boukari, Majdi;
Mili Boussen, Ilhem;
Errais, Khalil;
Zhioua, Raja

Publication type:

journal article

Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl.

Published in:

2021

By:

Guan, Wenxue;
Wang, Ge;
Hu, Feng;
Peng, Xiaoyan

Publication type:

journal article

Use of wide field digital retinal imaging (RET CAM II) in paediatric retinal diseases.

Published in:

Acta Ophthalmologica (1755375X), 2012, v. 90, p. 0, doi. 10.1111/j.1755-3768.2012.T118.x

By:

PINELLO, L;
MAZZAROLO, M

Publication type:

Article

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02840-0

By:

Palmer, Eleanor;
Stepien, Karolina M.;
Campbell, Christopher;
Barton, Stephanie;
Iosifidis, Christos;
Ghosh, Arunabha;
Broomfield, Alexander;
Woodall, Alison;
Wilcox, Gisela;
Sergouniotis, Panagiotis I.;
Black, Graeme C.

Publication type:

Article

Girat Atrofi.

Published in:

Current Retina Journal / Güncel Retina Dergisi, 2021, v. 5, n. 3, p. 218

By:

Uğurbaş, Sılay Cantürk

Publication type:

Article

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.

Published in:

Journal of Ophthalmic & Vision Research, 2024, v. 19, n. 1, p. 118, doi. 10.18502/jovr.v19i1.15446

By:

Ramshe, Samira Molaei;
Zardadi, Safoura;
Alehabib, Elham;
Nourinia, Ramin;
Jamshidi, Javad;
Soosanabadi, Mohsen;
Darvish, Hossein

Publication type:

Article

Nutritional therapies for ocular disorders: part three.

Published in:

2008

By:

Gaby AR

Publication type:

Journal Article

Nutritional Therapies for Ocular Disorders: Part Three.

Published in:

Alternative Medicine Review, 2008, v. 13, n. 3, p. 191

By:

Gaby, Alan R.

Publication type:

Article