RESUMO
In this report, an 8-year-old girl is presented with the complaint of progressive night blindness. The authors have performed eye funduscopy, which showed chorioretinal atrophy in gyrate shape. A high level of plasma ornithine was determined. Urinary excretion of ornithine as well as lysine and cystine were increased. Patient was treated with high dose pyridoxine supplement (500 mg/dl). The night blindness condition of the patient improved. After 1 month of pyridoxine therapy ornithine level of her plasma was successfully reduced and blindness improved.
Assuntos
Atrofia Girata/diagnóstico , Piridoxina/uso terapêutico , Complexo Vitamínico B/uso terapêutico , Biomarcadores/sangue , Biomarcadores/urina , Criança , Cistinúria/etiologia , Feminino , Atrofia Girata/sangue , Atrofia Girata/tratamento farmacológico , Atrofia Girata/urina , Humanos , Lisina/urina , Cegueira Noturna/etiologia , Ornitina/sangue , Ornitina/urinaAssuntos
Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico , Atrofia Girata/tratamento farmacológico , Lisina/uso terapêutico , Ornitina/sangue , Administração Oral , Adolescente , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/urina , Distinções e Prêmios , Tolerância a Medicamentos , Comportamento Alimentar , Atrofia Girata/sangue , Atrofia Girata/urina , Humanos , Lisina/administração & dosagem , Lisina/metabolismo , Masculino , Pessoa de Meia-Idade , Ornitina/urina , Projetos Piloto , Sociedades MédicasRESUMO
The case of a 45-year-old woman with gyrate atrophy of the choroid and retina is documented. Additional features in this case, to the authors' knowledge not previously described in gyrate atrophy, are massive cystinuria, massive lysinuria, axial hypermetropia and diabetes. Gyrate atrophy is a rare autosomal recessive degenerative disease of the choroid and retina and is accompanied by defective ornithine metabolism. Simell and Takki demonstrated the association with hyperornithinaemia in 1973. The main metabolic features are those of hyperornithinaemia and ornithuria caused by a deficiency of the mitochondrial matrix enzyme, ornithine aminotransferase (OAT). The responsible human gene has been localised to chromosome 10. Despite the generalised deficiency of OAT, the literature indicates significant pathological involvement of the eye only. Ophthalmological features of the disease are myopia (up to 10-20 dioptres), night blindness, constricted visual fields and complicated cataracts. The clinical picture has been detailed previously by various authors. The case of a 45-year-old woman with gyrate atrophy and hyperornithinaemia is documented here. She has been followed up for 12 years and fully investigated. Additional features in this case, to our knowledge not previously described in gyrate atrophy, are massive cystinuria, massive lysinuria, axial hypermetropia and diabetes.