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BMJ Case Rep. 2010; 2010: bcr0420102951.
Published online 2010 November 29. doi:  10.1136/bcr.04.2010.2951
PMCID: PMC3029608
Rare disease

First reported cases of gyrate atrophy of the choroid from Nepal

Abstract

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 B6 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.


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