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https://hdl.handle.net/10316/29249
Título: | Spastic paraplegia with juvenile onset optic neuropathy| | Autor: | Pacheco, Mariana Teixeira Pinto Ferreira | Orientador: | Silva, Eduardo | Palavras-chave: | Oftalmologia; Atrofia girata | Data: | 2014 | Resumo: | Hereditary Spastic Paraparesis (HSP) represents a group of genetically determined heterogeneous diseases. Mutations in the SPG7 (Paraplegin) gene, are responsible for a wide range of clinical presentations, varying from an autosomal recessive form of HSP to a form of ADON (Autossomal Dominant Optic Neuropathy), whose clinical characteristics are physiologically based on mitochondrial dysfunction. The impact of optic involvement clinically determined or revealed by supplementary diagnostic means as a clinical biomarker of HSP7 is to be valued. We present a case report of a 23 year-old, caucasian male with a childhood-onset progressive spastic paraplegia with juvenile-onset rapidly progressive severe optic neuropathy. We aim to highlight the importance of a complete ophthalmological evaluation when a facing a probable neurodegenerative disorder consistent with HSP, in order to correctly characterize the underlying clinical syndrome and efficiently request supplementary diagnostic exams | Descrição: | Trabalho final de mestrado integrado em Medicina (Oftalmologia), apresentado à Faculdade de Medicina da Universidade de Coimbra | URI: | https://hdl.handle.net/10316/29249 | Direitos: | openAccess |
Aparece nas coleções: | UC - Dissertações de Mestrado FMUC Medicina - Teses de Mestrado |
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Ficheiro | Descrição | Tamanho | Formato | |
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Mariana Pacheco.pdf | 959.05 kB | Adobe PDF | Ver/Abrir |
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