RESUMO
PURPOSE: Predictive genetic testing of relatives of known myocilin (MYOC) gene mutation carriers is an appropriate strategy to identify individuals at risk for glaucoma. It is likely to prevent irreversible blindness in this high-risk group because this treatable condition might otherwise be diagnosed late. The Australian and New Zealand Registry of Advanced Glaucoma has established genetic testing protocols for known glaucoma genes, including MYOC. METHODS: Through the Australian and New Zealand Registry of Advanced Glaucoma, we investigated the experience of 40 unaffected individuals who had undergone predictive genetic testing for MYOC mutations through questionnaires. RESULTS: The main motivations for being tested were (i) to make appropriate interventions and (ii) to reduce uncertainty. All our respondents perceived strong benefits, either medical or emotional, in being tested. However, different concerns were raised by the respondents that need to be addressed during counseling. Greater family awareness was reported by the majority of the respondents, and the ability to provide information to children was a strong motivation for being tested. CONCLUSION: This study provides valuable information on the personal and familial impacts of having predictive genetic testing for glaucoma, which will help health professionals to better address the issues faced by patients and provide them adequate support.
Assuntos
Proteínas do Citoesqueleto/genética , Proteínas do Olho/genética , Predisposição Genética para Doença/psicologia , Testes Genéticos , Glaucoma de Ângulo Aberto/genética , Glaucoma de Ângulo Aberto/psicologia , Glicoproteínas/genética , Mutação/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Família , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Nova Zelândia , Prognóstico , Inquéritos e QuestionáriosRESUMO
Aflibercept has been listed on the Australian Pharmaceutical Benefit Scheme for the past year for neovascular age-related macular degeneration. Since that time there have not been any reports of delayed onset panuveitis. We present two cases of anterior and posterior uveitis that have occurred 4â weeks or more after first intravitreal injection of aflibercept. Both patients had received other vascular endothelial growth factor inhibitors prior to aflibercept administration without signs of inflammation and both cases had sterile endophthalmitis. On resolution of the inflammation the patients were recommenced on ranibizumab without further incident.