Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children

Arch Ophthalmol. 2002 Feb;120(2):146-53. doi: 10.1001/archopht.120.2.146.

Abstract

Objective: To determine whether the long-term reduction of plasma ornithine levels by way of an arginine-restricted diet in patients with gyrate atrophy will slow the progression of this chorioretinal degeneration.

Design: Natural history study of 2 pairs of siblings with gyrate atrophy treated with an arginine-restricted diet.

Main outcome measures: Fundus photography and electrophysical and psychophysical retinal function tests.

Results: After 16 to 17 years of receiving an arginine-restricted diet, the younger sibling in each pair, who was prescribed the diet at an earlier age than the older sibling, demonstrated a slower progression of lesions compared with the older sibling.

Conclusions: If started at an early age, long-term substantial reduction of plasma ornithine levels may appreciably slow the progression of the chorioretinal lesions and, to a lesser extent, the progressive loss of retinal function in patients with gyrate atrophy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Arginine / administration & dosage
  • Choroid Diseases / blood
  • Choroid Diseases / diet therapy
  • Choroid Diseases / physiopathology*
  • Diet, Protein-Restricted
  • Disease Progression
  • Electroretinography
  • Female
  • Fundus Oculi
  • Gyrate Atrophy / blood
  • Gyrate Atrophy / diet therapy
  • Gyrate Atrophy / physiopathology*
  • Humans
  • Male
  • Nuclear Family
  • Ornithine / blood*
  • Pedigree
  • Photography
  • Retinal Diseases / blood
  • Retinal Diseases / diet therapy
  • Retinal Diseases / physiopathology*
  • Visual Acuity
  • Visual Fields

Substances

  • Arginine
  • Ornithine