Gyrate atrophy of the choroid and retina

2021 ◽  
pp. postgradmedj-2021-139807
Author(s):  
João Pedro Marques ◽  
Pedro Pereira
Keyword(s):  
Gyrate Atrophy

scholarly journals Point Mutation Affecting Processing of the Ornithine Aminotransferase Precursor Protein in Gyrate Atrophy

1989 ◽  
Vol 264 (29) ◽  
pp. 17432-17436
Author(s):  
G Inana ◽  
C Chambers ◽  
Y Hotta ◽  
L Inouye ◽  
D Filpula ◽  
...  
Keyword(s):  
Point Mutation ◽  
Precursor Protein ◽  
Ornithine Aminotransferase ◽  
Gyrate Atrophy

Progression of gyrate atrophy of the choroid and retina

2009 ◽  
Vol 65 (1) ◽  
pp. 101-109 ◽  
Author(s):  
Kaarina Vannas-Sulonen
Keyword(s):  
Gyrate Atrophy

Creatine corrects muscle 31 P spectrum in gyrate atrophy with hyperornithinaemia

1999 ◽  
Vol 29 (12) ◽  
pp. 1060-1065 ◽  
Author(s):  
Heinänen ◽  
Näntö-Salonen ◽  
Komu ◽  
Erkintalo ◽  
Alanen ◽  
...  
Keyword(s):  
Gyrate Atrophy

Gyrate Atrophy in a Young Man

2011 ◽  
Vol 129 (2) ◽  
pp. 183
Author(s):  
Jay Kumar Chhablani
Keyword(s):  
Gyrate Atrophy

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant

2018 ◽  
Vol 103 (3) ◽  
pp. 428-435 ◽  
Author(s):  
Junting Huang ◽  
Jiewen Fu ◽  
Shangyi Fu ◽  
Lisha Yang ◽  
Kailai Nie ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Low Income ◽  
Autosomal Recessive ◽  
Diagnostic Value ◽  
Consanguineous Marriage ◽  
Chinese Family ◽  
Next Generation ◽  
Gyrate Atrophy ◽  
Metabolic Analysis ◽  
Generation Sequencing

Background/AimGyrate atrophy of the choroid and retina (GACR) is an extremely rare autosomal recessive inherited disorder characterised by progressive vision loss. To identify the disease-causing gene in a consanguineous Chinese pedigree with GACR, we aimed to accurately diagnose patients with GACR through a combination of next-generation sequencing (NGS) genetic diagnosis, clinical imaging and amino acid metabolic analysis.MethodsA consanguineous Chinese pedigree with GACR, including two patients, was recruited and a comprehensive ophthalmological evaluation was performed. DNA was extracted from a proband and her family members, and the sample from the proband was analysed using targeted NGS. Variants ‎detected by NGS were confirmed by Sanger sequencing and subjected to segregation analysis. Tandem mass spectrometry (MS/MS) was subsequently performed for metabolic assessment.ResultsWe identified a ‎novel, deleterious, homologous ornithine aminotransferase (OAT) variant, c.G248A: p.S83N, which contributes to ‎the progression of GACR in patients. Our results showed that the p.S83N autosomal recessive ‎variant of OAT is most likely ‎pathogenic, with changes in protein stability drastically decreasing functionality. MS/MS verified that ornithine levels in patients were significantly elevated.ConclusionsRecruitment of a third-degree first cousin consanguineous marriage family with GACR allowed us to identify a novel pathogenicOATvariant in the Chinese population, broadening the mutation spectrum. Our findings reported the diagnostic value of a combination of NGS, retinal imaging and metabolic analysis of consanguineous marriage pedigrees in low-income/middle-income and low-incidence countries, including China, and may help to guide accurate diagnosis and ‎treatment of this disease.

scholarly journals Macular edema associated with gyrate atrophy managed with intravitreal triamcinolone: a case report

2007 ◽  
Vol 70 (5) ◽  
pp. 858-861 ◽  
Author(s):  
Daniel Vítor Vasconcelos-Santos ◽  
Érika Pacheco Magalhães ◽  
Márcio Bittar Nehemy
Keyword(s):  
Case Report ◽  
Macular Edema ◽  
Gyrate Atrophy ◽  
Intravitreal Triamcinolone

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

2012 ◽  
Vol 75 (1) ◽  
pp. 59-60 ◽  
Author(s):  
Rodrigo Fabri Berbel ◽  
Paulo Igor Rauen ◽  
Raphael Frangiote Pallone ◽  
Antônio Marcelo Barbante Casella
Keyword(s):  
Case Report ◽  
Retinal Detachment ◽  
Gyrate Atrophy

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

2016 ◽  
Vol 9 (2) ◽  
pp. 104 ◽  
Author(s):  
Koushik Tripathy ◽  
Rohan Chawla ◽  
YogRaj Sharma ◽  
Varun Gogia
Keyword(s):  
Gyrate Atrophy ◽  
Fluorescein Angiogram
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