Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG)

Kirti M. Jasani, Neil R.A. Parry, Graeme Black, Simon P. Kelly

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number217556
JournalBMJ Case Reports
Volume2018
Early online date5 Feb 2018
DOIs
Publication statusPublished - 2018

Keywords

  • macula
  • retina
  • visual pathway

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