Literature DB >> 3991128

Gyrate atrophy of the choroid and retina. Early findings.

M I Kaiser-Kupfer, I H Ludwig, F M de Monasterio, D Valle, I Krieger.   

Abstract

Examination of two sisters ages 2 years 10 months and 6 years four months with gyrate atrophy of the choroid and retina provided an opportunity for detailed clinical investigation. Although the chorioretinal lesions were confined to the peripheral retina in the older case and were quite minimal in the younger case, there was electroretinographic evidence of marked involvement of the cone and rod systems. These cases offer an opportunity to assess an arginine restricted diet in preventing the progress of the disease.

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Year:  1985        PMID: 3991128     DOI: 10.1016/s0161-6420(85)34022-8

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  10 in total

1.  Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.

Authors:  T Wang; G Steel; A H Milam; D Valle
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

2.  The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

Authors:  Monique G M de Sain-van der Velden; Piero Rinaldo; Bert Elvers; Mick Henderson; John H Walter; Berthil H C M T Prinsen; Nanda M Verhoeven-Duif; Tom J de Koning; Peter van Hasselt
Journal:  JIMD Rep       Date:  2012-02-24

3.  Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.

Authors:  Ying Peng; Sandra K Cooper; Yi Li; Jay M Mei; Shuwei Qiu; Gregory L Borchert; Steven P Donald; Hsiang-Fu Kung; James M Phang
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-04       Impact factor: 4.799

4.  A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.

Authors:  T Wang; A H Milam; G Steel; D Valle
Journal:  J Clin Invest       Date:  1996-06-15       Impact factor: 14.808

5.  Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.

Authors:  Fatos Tanzer; Mehtap Firat; Meral Alagoz; Haydar Erdogan
Journal:  BMJ Case Rep       Date:  2011-03-15

6.  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.

Authors:  Agnes B Renner; Andreas Walter; Britta S Fiebig; Herbert Jägle
Journal:  Doc Ophthalmol       Date:  2012-06-07       Impact factor: 2.379

7.  Gyrate atrophy of the choroid and retina: ERG of the neural retina and the pigment epithelium.

Authors:  C Raitta; S Carlson; K Vannas-Sulonen
Journal:  Br J Ophthalmol       Date:  1990-06       Impact factor: 4.638

Review 8.  Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic Pathways.

Authors:  Antonin Ginguay; Luc Cynober; Emmanuel Curis; Ioannis Nicolis
Journal:  Biology (Basel)       Date:  2017-03-07

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

Authors:  Marija Zekušić; Ana Škaričić; Ksenija Fumić; Dunja Rogić; Tamara Žigman; Danijela Petković Ramadža; Nenad Vukojević; Véronique Rüfenacht; Valentina Uroić; Ivo Barić
Journal:  Biochem Med (Zagreb)       Date:  2018-10-15       Impact factor: 2.313

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

Authors:  Imène Zhioua Braham; Imen Ammous; Rim Maalej; Majdi Boukari; Ilhem Mili Boussen; Khalil Errais; Raja Zhioua
Journal:  BMC Ophthalmol       Date:  2018-04-12       Impact factor: 2.209

  10 in total

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