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https://doi.org/10.21860/medflum2019_218805

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

Martina Galiot Delić orcid.org/0000-0002-5728-9613 ; KBC Zagreb, Sveučilište u Zagrebu, Medicinski fakultet u Zagrebu, Zagreb, Hrvatska
Jelena Juri Mandić ; KBC Zagreb, Sveučilište u Zagrebu, Medicinski fakultet u Zagrebu, Zagreb, Hrvatska
Tomislav Jukić ; KBC Zagreb, Sveučilište u Zagrebu, Medicinski fakultet u Zagrebu, Zagreb, Hrvatska
Sanja Perić ; KBC Zagreb, Sveučilište u Zagrebu, Medicinski fakultet u Zagrebu, Zagreb, Hrvatska
Zlatko Juratovac ; KBC Zagreb, Sveučilište u Zagrebu, Medicinski fakultet u Zagrebu, Zagreb, Hrvatska
Petra Kristina Ivkić ; KBC Zagreb, Sveučilište u Zagrebu, Medicinski fakultet u Zagrebu, Zagreb, Hrvatska

Abstract

Aim: The aim is to present the clinical course, diagnostics and treatment of six-year-old girl with gyrate atrophy and bilateral cystoid macular edema. Case report: Four-year old girl was found with low vision and convergent strabismus in a systematic medical examination. After two years of the amblyopia treatment bilateral macular edema was detected and the child was refered to The Department of Ophthalmology. She presented with the both eyes best corrected visual acuity 0.15, bilateral cystoid macular edema and peripheral, oval zones of chorioretinal atrophy. Antiedematous therapy was administered. Clinical work-up revealed extremely high plasma concentrations of ornithine and the diagnosis of gyrate atrophy (GA) of the chorioretina due to the lack of mitochondrial enzyme ornithine aminotransferase was established. The therapy with pyridoxine (vitamin B6) was started. This treatment led to slight reduction of serum ornithin concentrations; hence, low-protein diet was introduced, but decrease of ornithine concentrations was still insufficient. Therefore, the treatment with amino acid L-lysine was introduced in the therapy. Plasma ornithine concentrations successfully decreased to almost one third of the initial concentration. There was a transient decrease of cystoid macular edema, but atrophic lesions of the peripheral fundus progressed. Conclusion: Cystoid macular edema in patients with gyrate atrophy was followed by impaired visual acuity. Despite the intensive treatment macular edema persisted and further progression of atrophic lesion on the fundus periphery was detected. The maintenance of low plasma ornithine levels is an essential prerequisite for slowing the development of the disease and postponing the permanent loss of visual function.

Keywords

cystoid macular edema; gyrate artophy; ornithine aminotransferase

Hrčak ID:

218805

URI

https://hrcak.srce.hr/218805

Publication date:

1.6.2019.

Article data in other languages: croatian

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