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

نویسندگان

  • Surekha Bangal
  • Akshay Bhandari
  • Priyanka Dhaytadak
  • Pratik Gogri
چکیده

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.

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عنوان ژورنال:
  • The Australasian medical journal

دوره 5 12  شماره 

صفحات  -

تاریخ انتشار 2012