Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation

scientific article published on 7 June 2012

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation is …
instance of (P31):
scholarly articleQ13442814

External links are
P6179Dimensions Publication ID1021920201
P356DOI10.1007/S10633-012-9335-0
P698PubMed publication ID22674428

P2093author name stringAndreas Walter
Britta S Fiebig
Herbert Jägle
Agnes B Renner
P2860cites workOrnithine delta-aminotransferase activity in retina and other tissuesQ28268877
Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical dataQ33431727
Gyrate atrophy of the choroid and retina: 15 Japanese patientsQ33644615
Gyrate atrophy of the choroid and retina: ERG of the neural retina and the pigment epitheliumQ33648091
Gyrate atrophy of the choroid and retina associated with hyperornithinaemiaQ33649341
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemiaQ33996951
Gyrate atrophy of the choroid and retina. Approaches to therapyQ34276390
Regional expression of disease-related genes in human and monkey retina.Q34480020
The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.Q35246132
Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient dietQ37020262
Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerationsQ40536554
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophyQ40556651
Gyrate atrophy of the choroid and retina. A five-year follow-up of creatine supplementationQ43407150
Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferaseQ43571466
Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in childrenQ43879074
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-upQ44908120
Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophyQ44975003
Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.Q45930058
Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluationQ46614297
Macular edema associated with gyrate atrophy managed with intravitreal triamcinolone: a case reportQ46834727
Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degenerationQ46939644
ISCEV Standard for full-field clinical electroretinography (2008 update).Q47217837
Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural geneQ48313642
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndromeQ50451771
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.Q51789023
Raised plasma-ornithine and gyrate atrophy of the choroid and retina.Q53902961
Gyrate Atrophy of the Retina: Inborn Error of L-Ornithin:2-Oxoacid AminotransferaseQ67312894
The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10Q67978796
Progression of gyrate atrophy of the choroid and retina. A long-term follow-up by fluorescein angiographyQ69007853
Comparison of ornithine aminotransferase activities in the pigment epithelium and retina of vertebratesQ69443528
Epiretinal membranes and cystoid macular edema in gyrate atrophy of the choroid and retinaQ69710674
Gyrate atrophy of the choroid and retina. Early findingsQ70094592
The skipping of constitutive exons in vivo induced by nonsense mutationsQ70554031
The natural history of gyrate atrophy of the choroid and retinaQ70838984
Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-restricted dietQ70838995
Clinical and biochemical heterogeneity in gyrate atrophyQ71136167
Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by dietQ71416539
Cataract in gyrate atrophy: clinical and morphologic studiesQ71686989
Visual results of a long-term trial of a low-arginine diet in gyrate atrophy of choroid and retinaQ72091959
Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacementQ73860874
P433issue1
P407language of work or nameEnglishQ1860
P304page(s)81-89
P577publication date2012-06-07
P1433published inDocumenta OphthalmologicaQ15766028
P1476titleGyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation
P478volume125

Reverse relations

cites work (P2860)
Q28305909OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina
Q57094719Progression of gyrate atrophy measured with ultra-wide-field imaging
Q52861104Recurrent episodes of night blindness in a patient with short bowel syndrome.
Q38260931Single-nucleotide polymorphisms and DNA methylation markers associated with central obesity and regulation of body weight.
Q85733504Ten-year follow-up of two unrelated patients with Müller cell sheen dystrophy and first report of successful vitrectomy
Q50044071Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG).

Search more.