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Cystoid macular edema in gyrate atrophy of choroid and retina associated with hyperornithinemia

Purpose: To present the clinical course, diagnostic and treatments of six-year-old girl with gyrate atrophy and bilateral cystoid macular edema. Methods: Case report. Four-year-old girl was found with low vision and convergent strabismus in a systematic medical examination. After 2 years of amblyopia treatment bilateral macular edema was detected and the child was referred to The Department of Ophthalmology. Results: A six-year-old girl, status at presentation - both eyes: BCVA 0.15, cystoid macular edema, sharply demarcated oval zones of peripheral choroidal atrophy. Antiedematous therapy with systemic corticosteroids and topical carbonic anhydrase inhibitors was administrated. Diagnostic results: OCT - cystoid macular edema ; ERG: complete lack of response of rodes and cones ; perimetry: concentric narrowing of visual fields ; serology negative ; chest X-ray unremarkable ; extremely high concentration of plasma ornithine (1039) due to the lack of mitochondrial enzyme ornithine aminotransferase - gyrate atrophy of chorioretina was established. Molecular analisis revealed the homozygous mutation c.868_870delCTT (p.Leu290del) in exon 7 of OAT gene. The therapy with pyridoxine (vitamin B6), cofactor of ornithine aminotransferase, slightly reduced serum ornithine ; low-protein diet was introduced, but the response with ornithine level was insufficient. There was transient decrease of bilateral cystoid macular edema, but the progression of periferal atrophyc lesions continued. Therefore, treatment with amino acid L-lysine was introduced in the therapy with the aim to lower the reabsorption of ornithine and arginine in the kidneys. Conclusions: Although it seems that the posterior pole of the eye is preserved, cystoid macular edema in gyrate atrophy is a major cause of poor visual acuity. Despite pyridoxine treatment, low- protein diet and antiedematous therapy, macular edema persist and there is a notable progression of peripheral atrophic chorioretinal lesions. It is possible that L- lyosine supplementation would result in desired decrease of plasma ornithine concentration and subsequent clinical improvement.

gyrate atrophy; hyperornithinemia

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