Introduction

the history and clinical findings of 3.5 and 5.5-years old siblings with gyrate atrophy (GA) of the choroid and retina are presented.

Material and methods

Siblings: a girl at the age 3.5 years and her brother 5.5 years were examined. Clinical and biochemical findings were performed.

Results

he best corrected visual acuity of both girl and boy was below normal values. Myopia of middle degree and myopic astigmatism was presented in both eyes of siblings. On fundus examination sharply defined bizarre shaped atrophic areas of peripheral choroid and retina were seen in both eyes of children. Fluorescein angiography showed hyperfluorescence in the area of gyrate atrophy. The boy’s plasma ornithine level was increased to 974.950 umol/L and the girl’s to 1007.188 umol/L. The concentration of ornithine, lysine and arginine in the urea of these patients was high.

Conclusions

Early cilnical and biochemical diagnosis of gyrate atrophy of the choroid and retina in children is very important, because low protein diet with elimination of arginine can reduce the progression of this severe disease.