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Detecting Abnormalities in Choroidal Vasculature in a Mouse Model of Age-related Macular Degeneration by Time-course Indocyanine Green Angiography
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[Gyrate atrophy of the choroid and retina in children]

Bronisława Koraszewska-Matuszewska1, Małgorzata Korzekwa, Elzbieta Samochowiec-Donocik

  • 1Z Katedry i Kliniki Okulistyki Dzieciecej Slaskiej Akademii Medycznej w Katowicach.

Klinika Oczna
|August 2, 2005
PubMed

Insights

Gyrate atrophy (GA) of the choroid and retina in children can be diagnosed early through clinical and biochemical testing. A low-protein diet, excluding arginine, may slow the progression of this severe condition.

Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Biochemistry

Background:

  • Gyrate atrophy (GA) is a rare inherited chorioretinal disorder.
  • Early diagnosis is crucial for managing the condition and preventing vision loss.

Observation:

  • Two siblings, a 3.5-year-old girl and a 5.5-year-old boy, presented with symptoms of gyrate atrophy.
  • Both children exhibited reduced visual acuity, myopia, and myopic astigmatism.
  • Fundus examination revealed characteristic peripheral chorioretinal atrophy in both siblings.

Findings:

  • Elevated plasma ornithine levels were observed in both siblings (974.950 umol/L in the boy, 1007.188 umol/L in the girl).
  • High concentrations of ornithine, lysine, and arginine were detected in the patients' urine.
  • Fluorescein angiography confirmed features consistent with gyrate atrophy.

Implications:

  • Early clinical and biochemical diagnosis of gyrate atrophy in children is essential.
  • Dietary intervention, including a low-protein diet and arginine restriction, may be a viable strategy to slow disease progression.
  • This case highlights the importance of timely diagnosis and management of inherited retinal disorders.
Abstract

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