Shrestha Sachet Prabhat, Arora Reema, Pradhan Rajesh, Bhatt Subramaniam
Department of Ophthalmology, Manipal College of Medical Sciences, Pokhara, Kaski, Nepal.
BMJ Case Rep. 2010 Nov 29;2010:bcr0420102951. doi: 10.1136/bcr.04.2010.2951.
Two sisters previously diagnosed as having retinitis pigmentosa presented with complaints of frequent change of glasses. On ocular examination, the fundus showed the appearance of confluent arcuate equatorial full thickness lesions of the choroid and retina, sparing some of the large choroidal vessels, and separated from one another by thin margins of pigment, in both the sisters. Serum analysis was done for ornithine levels, which showed hyperornithinaemia (741 and 462 µmol/l in the elder and younger sister, respectively) consistent with gyrate atrophy (GA) of the choroid. Both the sisters were prescribed vitamin B(6) and a restricted protein diet to which they responded very well. This case highlights the importance of correct diagnosis and prompt management in diagnosed cases. These are the first reported cases of GA of choroid from Nepal.
两名先前被诊断患有色素性视网膜炎的姐妹因频繁更换眼镜前来就诊。眼部检查时，眼底显示脉络膜和视网膜呈融合性弓形赤道部全层病变，部分大脉络膜血管未受累，两姐妹的病变之间有色素薄边分隔。对血清进行了鸟氨酸水平分析，结果显示高鸟氨酸血症（姐姐和妹妹的鸟氨酸水平分别为741和462 μmol/L），与脉络膜回旋状萎缩（GA）相符。给两姐妹都开了维生素B6和限制蛋白质饮食的处方，她们对此反应良好。该病例突出了确诊病例中正确诊断和及时治疗的重要性。这些是尼泊尔首次报道的脉络膜GA病例。
