Article Text
Summary
Gyrate atrophy is a rare autosomal recessive disorder caused by a mutation in the ornithine-δ-amino transferase gene. We present an interesting case of a 33-year-old woman who presented with increasing myopia, nyctalopia and failing vision. Examination revealed posterior subscapsular cataracts, narrowed peripheral visual fields and scalloped atrophic peripheral chorioretinal lesions. Blood investigations showed a raised plasma ornithine level at 917 μmol/L (normal range: 32–88 μmol/L) confirming the diagnosis of gyrate atrophy. The patient, despite not tolerating dietary treatment, had retained central vision over a follow-up period of 18 years. The electroretinogram, which normally diminishes with disease progression, was still nearly normal when last tested at 16 years follow-up. Genetic testing did not reveal any novel mutation that could account for this variation.
- macula
- retina
- visual pathway
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Footnotes
Contributors KMJ and SPK were involved in the conception or design of the work; data collection, data analysis and interpretation and final approval of the version to be published. KMJ was responsible for the drafting of the article. NP and GB were involved in the data collection, data analysis and interpretation; critical revision of the article and final approval of the version to be published. SPK did the critical revision of the article.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.