Best’s disease also termed as vitelliform macular dystrophy is an autosomal dominant sorder which classically presents in childhood with the striking appearance of a yellow or orange yolk like lesion in the macula. Dr Franz Best, a German ophthalmologist, described the first pedigree in 1905. A 23year old male with complain of gradual reduction of vision distortion of images and presence of bli...

Introduction: To evaluate a case of bilateral diminution vision with metamorphopsia and hyperdeviation. This is retrospective descriptive study data was gathered from series questionnaire investigative analysis. Case Report: A 27-yea

PURPOSE To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene. METHODS Ophthalmologic examination was performed in eight members of two families originating from Spain and Denmark. Mutation screening was performed using the Vitelliform Macular Dystrophy mutation arra...

PURPOSE The VMD2 gene, mutated in Best macular dystrophy (BMD) encodes bestrophin, a 68-kDa basolateral plasma membrane protein expressed in retinal pigment epithelial (RPE) cells. BMD is characterized by a depressed light peak (LP) in the electro-oculogram. Bestrophin is thought to be the Cl channel that generates the LP. The goal was to generate an animal model of BMD and to determine the eff...

IMPORTANCE Demonstrating the utility of adaptive optics scanning light ophthalmoscopy (AOSLO) to assess outer retinal structure in Best vitelliform macular dystrophy (BVMD). OBJECTIVE To characterize outer retinal structure in BVMD using spectral-domain optical coherence tomography (SD-OCT) and AOSLO. DESIGN, SETTING, AND PARTICIPANTS Prospective, observational case series. Four symptomatic...

Focal choroidal excavation (FCE) was first reported as a choroidal posteriorly excavated zone without any scleral change. Choroidal excavation also divided into conforming and nonconforming type. Numerous reports demonstrated association between FCE and other disease such as choroidal neovascularization and central serous choroidoretinopathy. Here, we report a rare case of FCE in a patient with...