Bestrophin 1 and retinal disease
Sign Up to like & getrecommendations! Published in 2017 at "Progress in Retinal and Eye Research"
DOI: 10.1016/j.preteyeres.2017.01.006
Abstract: Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the "bestrophinopathies". These five associated diseases are: Best vitelliform macular dystrophy,… read more here.
Keywords: bestrophin retinal; best1; macular dystrophy; retinal disease ... See more keywords
NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.
Sign Up to like & getrecommendations! Published in 2018 at "Retina"
DOI: 10.1097/iae.0000000000002183
Abstract: PURPOSE To characterize novel BEST1 mutations and the phenotype-genotype correlations in vitelliform macular dystrophy in a Chinese population. METHODS Seventeen individuals affected by vitelliform macular dystrophy underwent detailed ophthalmic examinations, including a best-corrected visual acuity… read more here.
Keywords: macular dystrophy; vitelliform macular; novel best1; best1 mutations ... See more keywords
Short-Term Modifications of Ellipsoid Zone in Best Vitelliform Macular Dystrophy.
Sign Up to like & getrecommendations! Published in 2020 at "Retina"
DOI: 10.1097/iae.0000000000002977
Abstract: PURPOSE To assess ellipsoid zone (EZ) alterations in Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (SD-OCT). METHODS Prospective, observational case series. Forty-three patients (43 eyes) underwent complete ophthalmological examination at baseline and… read more here.
Keywords: ellipsoid zone; bcva; macular dystrophy; vitelliform macular ... See more keywords
Multimodal imaging in a case of best vitelliform macular dystrophy.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of ophthalmology"
DOI: 10.1177/11206721211008779
Abstract: We describe a case of Best Vitelliform Macular Dystrophy using the Mirante device by Nidek, a multi-modal confocal scanning laser ophthalmoscopy (SLO) system equipped with Retro Mode Illumination, a relatively new retinal imaging modality. read more here.
Keywords: macular dystrophy; vitelliform macular; best vitelliform; case best ... See more keywords
Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of ophthalmology"
DOI: 10.1177/11206721231166434
Abstract: Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements… read more here.
Keywords: macular dystrophy; multimodal imaging; vitelliform macular; best vitelliform ... See more keywords
Best vitelliform macular dystrophy in a large Brazilian family
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Retina and Vitreous"
DOI: 10.1186/s40942-019-0156-0
Abstract: BackgroundTo describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy.MethodsA retrospective chart review of a Brazilian family was conducted and complementary fundus images (color photography, autofluorescence, fluorescein angiography… read more here.
Keywords: macular dystrophy; vitelliform macular; brazilian family; best vitelliform ... See more keywords
Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2186_21
Abstract: Purpose: To evaluate patterns of pediatric vitelliform macular dystrophy (PVMD). Methods: This is a retrospective analysis of Indian children with vitelliform macular dystrophy (VMD) presenting within the first decade of life. Records were evaluated for… read more here.
Keywords: vitelliform macular; decade life; first decade; clinical visual ... See more keywords