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  • Title: Gyrate atrophy of the choroid and retina in a 5-year-old girl.
    Author: Mehta MC, Katsumi O, Shih VE, Hirose T.
    Journal: Acta Ophthalmol (Copenh); 1991 Dec; 69(6):810-4. PubMed ID: 1789102.
    Abstract:
    A 5-year-old Asian-Indian female presented with bilateral cobblestone-like peripheral lesions, a single area of chorioretinal atrophy, infero-nasal to the disc, in her right eye and a non-recordable single flash ERG. Serum ornithine level was assayed at 841 mumol/l, ten times normal levels, and a diagnosis of gyrate atrophy, due to ornithine aminotransferase deficiency was made. The patient was refractory to any form of therapy and her clinical lesions spread rapidly in both eyes, showing both centrifugal and centripetal spread in her right eye. A rapid deterioration in her psychophysical tests was also seen over the 28 months follow-up. The presence of cobblestone-like peripheral lesions in a child should alert the clinician to the possibility of gyrate atrophy, and the rapid spread of the chorioretinal lesions coupled with non-recordable single flash ERGs, in a young patient may suggest a much poorer prognosis.
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