Electrophysiology, Optical Coherence Tomography and Molecular Genetic Analysis in Patients with Glaucoma and/or Best Vitelliform Macular Dystrophy as Part of Clinical Care

Sammanfattning: Glaucoma is a common ophthalmic disease with multifactorial aetiology. There is growing evidence that glaucoma is a disease of the entire retina and not only the inner retina. Best vitelliform macular dystrophy (BVMD) affects the retinal pigment epithelium and is considered a model system for the more common blinding disease, age-related macular degeneration. The aim of the work presented in this thesis was to analyse clinical, electrophysiological and morphological outcomes before and after treatment or follow-up of patients with different types of glaucoma such as primary open-angle glaucoma (POAG), angle-closure glaucoma (ACG) and neovascular glaucoma (NVG) and/or BVMD. Full-field electroretinography (full-field ERG), which reflects total retinal function, multifocal electroretinography (mfERG), which reflects central retinal function, optical coherence tomography (OCT), which analyses central retinal structure, and molecular genetic analysis are objective tools used to evaluate patients in this study. Full-field ERG showed a clear reduction in the entire retinal function in NVG patients before treatment and a worsening of the total retinal function after treatment, especially when bevacizumab was used. The impaired retinal function, compared with controls, was confirmed by full-field ERG in POAG patients. Surgical reduction of the intraocular pressure in POAG patients improved both the central retinal function and structure, as demonstrated by mfERG and OCT, suggesting that the entire retina is affected in glaucoma. The presence of biallelic mutations in the bestrophin-1 gene (BEST1) was associated with severe BVMD, demonstrated by full-field ERG, mfERG and OCT results. BVMD in patients with the well-known p.Y85H mutation in the BEST1 gene was also associated with developmental abnormalities in the anterior segment including ACG. No mutations of the MITF and CRX genes or disrupted pre-mRNA splicing were found in the BVMD-affected family studied.