RESUMEN
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.
Asunto(s)
Atrofia Girata , Retinosquisis , Niño , Femenino , Humanos , Atrofia Girata/etiología , Atrofia Girata/complicaciones , Coroides/patología , Retina/diagnóstico por imagen , Retina/patología , Angiografía con Fluoresceína , Retinosquisis/etiología , Retinosquisis/complicaciones , AtrofiaRESUMEN
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.
Asunto(s)
Encefalopatías/etiología , Enfermedades de la Coroides/etiología , Atrofia Girata/etiología , Degeneración Retiniana/etiología , Atrofia , Encefalopatías/patología , Preescolar , Enfermedades de la Coroides/patología , Femenino , Atrofia Girata/complicaciones , Atrofia Girata/patología , Atrofia Girata/terapia , Humanos , Imagen por Resonancia Magnética , Degeneración Retiniana/patologíaAsunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Atrofia Girata/etiología , Enfermedades Musculares/etiología , Ornitina/metabolismo , Adulto , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/metabolismo , Errores Innatos del Metabolismo de los Aminoácidos/terapia , Arginina , Dieta con Restricción de Proteínas , Humanos , Masculino , Ornitina-Oxo-Ácido Transaminasa/deficiencia , Piridoxina/uso terapéutico , Complejo Vitamínico B/uso terapéuticoRESUMEN
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.