RESUMO
A 57-year-old man with a past medical history of diabetes presented for consultation with a several year history of slowly progressive vision loss in both eyes, which continued to deteriorate over 7 years of follow-up. Multimodal imaging was performed and was significant for the following: on spectral domain optical coherence tomography, a gap lesion was present in the ellipsoid layer, beneath the umbo, as well as subtle macular changes on auto fluorescence imaging. Multifocal electroretinography was performed and was abnormal, and a clinical diagnosis of occult macular dystrophy was made. The patient was subsequently evaluated with genetic testing that revealed a novel p.P73S:c 217C>T nonsense mutation within the retinitis pigmentosa 1-like-1 (RP1L1) gene. The clinical significance of the identified variation will require further investigation.
Assuntos
Eletrorretinografia/métodos , Proteínas do Olho/genética , Judeus/genética , Degeneração Macular/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Transtornos da Visão/diagnóstico por imagem , Humanos , Degeneração Macular/complicações , Degeneração Macular/etnologia , Degeneração Macular/genética , Masculino , Pessoa de Meia-Idade , Imagem Multimodal/métodos , Mutação , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genética , Transtornos da Visão/genéticaRESUMO
Topiramate, a sulpha-based medication used in the treatment of migraine, has been documented as causing choroidal effusions, transient myopia and acute secondary angle closure glaucoma. We would like to report a case demonstrating these adverse effects and underscore the utility of ultrasound biomicroscopy in diagnosis and management.