| Literature DB >> 23382768 |
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