RESUMO
Gyrate chorioretinal atrophy (GCA) is a rare hereditary disease with certain complications; one extremely rare complication of GCA is foveoschisis. For the first time in Russian ophthalmology, a 10-year-old female child has been described to have genetically verified GCA associated with the OAT gene in combination with ornithinemia and foveoschisis. The diagnosis was made on the basis of fundus examination, perimetry data, autofluorescence, optical coherence tomography, fluorescence angiography, electroretinography, mass spectrometry with confirmation by molecular genetic research. The presented clinical case illustrates the need for an interdisciplinary approach to the diagnosis of GCA with diagnostic algorithm involving various examination methods and doctors of different specialties.
Assuntos
Atrofia Girata , Retinosquise , Criança , Feminino , Humanos , Atrofia Girata/etiologia , Atrofia Girata/complicações , Corioide/patologia , Retina/diagnóstico por imagem , Retina/patologia , Angiofluoresceinografia , Retinosquise/etiologia , Retinosquise/complicações , AtrofiaRESUMO
A 4-year-old girl was hospitalized for psychomotor delay, low vision, and horizontal nystagmus. She was found to have bilateral chorioretinal atrophic scars and 2 large occipital porencephalic cavities. High plasma ornithine levels led to the presumed diagnosis of gyrate atrophy of the choroid and retina. After 6 months of arginine-restricted diet and high-dose pyridoxine (300 mg/d), there was no change of plasma ornithine level or ocular findings. To our knowledge, this is the first report showing an association of porencephaly with gyrate atrophy of the choroid and retina.
Assuntos
Encefalopatias/etiologia , Doenças da Coroide/etiologia , Atrofia Girata/etiologia , Degeneração Retiniana/etiologia , Atrofia , Encefalopatias/patologia , Pré-Escolar , Doenças da Coroide/patologia , Feminino , Atrofia Girata/complicações , Atrofia Girata/patologia , Atrofia Girata/terapia , Humanos , Imageamento por Ressonância Magnética , Degeneração Retiniana/patologiaAssuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Atrofia Girata/etiologia , Doenças Musculares/etiologia , Ornitina/metabolismo , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Erros Inatos do Metabolismo dos Aminoácidos/terapia , Arginina , Dieta com Restrição de Proteínas , Humanos , Masculino , Ornitina-Oxo-Ácido Transaminase/deficiência , Piridoxina/uso terapêutico , Complexo Vitamínico B/uso terapêuticoRESUMO
Oral lysine administration to three patients with B6-nonresponsive gyrate atrophy reduced plasma ornithine concentrations by 21-31% within 1-2 days. No further reduction was noted with time.