Literature DB >> 23382768

Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India.

Surekha Bangal1, Akshay Bhandari, Priyanka Dhaytadak, Pratik Gogri.   

Abstract

Gyrate atrophy is a rare metabolic disease with autosomal recessive inheritance pattern characterised by hyperornithinemia and typical ocular findings. This report presents a 17-year-old intellectually challenged girl consulting for a progressive fall of visual acuity with night blindness. Fundus examination showed patches of chorioretinal atrophy with typical scalloped borders and peri vascular pigmentation in the equatorial region. Fundus fluroscein angiography revealed characteristic staining pattern. Other ocular associations included myopia and posterior sub capsular cataract. Progressive systemic proximal myopathy was one of the associated features. Dietary supplementation of vitamin B6 was advised.

Entities:  

Keywords:  Chorioretinal gyrate atrophy; myopathy; myopia; posterior sub capsular cataract

Year:  2012        PMID: 23382768      PMCID: PMC3561592          DOI: 10.4066/AMJ.2012.1540

Source DB:  PubMed          Journal:  Australas Med J        ISSN: 1836-1935


  9 in total

1.  Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: two cases from India.

Authors:  R Christopher; S V Babu; K T Shetty
Journal:  Ann Clin Biochem       Date:  1999-07       Impact factor: 2.057

2.  Gyrate atrophy of the choroid and retina.

Authors:  L Verma; H Murthy; H K Tewari; P K Khosla
Journal:  Indian J Ophthalmol       Date:  1989 Jul-Sep       Impact factor: 1.848

3.  Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.

Authors:  K Takki; O Simell
Journal:  Br J Ophthalmol       Date:  1974-11       Impact factor: 4.638

4.  Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

Authors:  O Simell; K Takki
Journal:  Lancet       Date:  1973-05-12       Impact factor: 79.321

5.  A specific enzyme defect in gyrate atrophy.

Authors:  M I Kaiser-Kupfer; D Valle; L A Del Valle
Journal:  Am J Ophthalmol       Date:  1978-02       Impact factor: 5.258

6.  The natural history of gyrate atrophy of the choroid and retina.

Authors:  K K Takki; R C Milton
Journal:  Ophthalmology       Date:  1981-04       Impact factor: 12.079

7.  Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-restricted diet.

Authors:  D Valle; M Walser; S Brusilow; M I Kaiser-Kupfer; K Takki
Journal:  Ophthalmology       Date:  1981-04       Impact factor: 12.079

Review 8.  Gyrate atrophy of the choroid and retina. Approaches to therapy.

Authors:  R G Weleber; N G Kennaway; N R Buist
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

9.  Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report.

Authors:  Alireza Javadzadeh; Davood Gharabaghi
Journal:  J Med Case Rep       Date:  2007-06-12
  9 in total
  1 in total

1.  Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

Authors:  Adrian Dockery; Kirk Stephenson; David Keegan; Niamh Wynne; Giuliana Silvestri; Peter Humphries; Paul F Kenna; Matthew Carrigan; G Jane Farrar
Journal:  Genes (Basel)       Date:  2017-11-03       Impact factor: 4.096

  1 in total

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