RESUMO
This article presents the case of a young male patient with complete congenital stationary night blindness (CSNB1). The informative value of the general medical history and clinical findings for the diagnosis was impaired due to language barriers and low compliance. Full-field electroretinography and optical coherence tomography help to define particular hereditary retinal dystrophies. Molecular genetic analysis by next generation sequencing as a part of multimodal diagnostics finally uncovered a rare, causal missense mutation in the nyctalopin (NYX) gene.
Assuntos
Oftalmopatias Hereditárias , Doenças Genéticas Ligadas ao Cromossomo X , Miopia , Cegueira Noturna , Proteoglicanas , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico por imagem , Oftalmopatias Hereditárias/genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico por imagem , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Masculino , Mutação , Miopia/diagnóstico por imagem , Miopia/genética , Cegueira Noturna/diagnóstico por imagem , Cegueira Noturna/genética , Proteoglicanas/genéticaRESUMO
Single adjuvant radiotherapy during anti-VEGF therapy could be in certain indications an alternative to the gold standard of sole intravitreal anti-VEGF drug injection in neovascular age-related macular degeneration. First clinical trials showed efficacy due to reduction of anti-VEGF injection numbers by 100 kV collimated beam radiotherapy. After consideration and performance of adjuvant radiotherapy, results of the course should be centrally registered in order to carry out further analysis.
