SciELO - Scientific Electronic Library Online

 
vol.79 número8Asfericidad corneal en una población de adultos jóvenes: Implicaciones clínicasGranuloma anular del párpado: una localización poco frecuente índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

Links relacionados

Compartilhar


Archivos de la Sociedad Española de Oftalmología

versão impressa ISSN 0365-6691

Resumo

PUERTAS BORDALLO, D et al. Optic neuropathy in biotinidase deficiency. Arch Soc Esp Oftalmol [online]. 2004, vol.79, n.8, pp.393-396. ISSN 0365-6691.

Clinical case: We report a case of a 12 year old male with vision loss (0.1 in both eyes). He also had sensorineural hearing loss (cochlear implant), asthma, dermatitis and alopecia. He was diagnosed with retrobulbar optic neuropathy, and was started on a treatment of intravenous corticosteroids, showing no improvement. A screening for congenital metabolopathies revealed a biotinidase deficiency, and treatment with biotin achieved a rapid clinical improvement. Discussion: When faced with an optic neuropathy in a child, we must always look for a biotinidase deficiency, because biotin therapy is the only treatment that achieves a clinical improvement.

Palavras-chave : Optic neuropathy; Biotin; Hearing loss.

        · resumo em Espanhol     · texto em Espanhol

 

Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons