The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

CJF Boon, BJ Klevering, BP Leroy, CB Hoyng… - Progress in retinal and …, 2009 - Elsevier
Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is
located in the basolateral membrane of the retinal pigment epithelium. The bestrophin-1 …

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies

HC Hartzell, Z Qu, K Yu, Q Xiao… - Physiological …, 2008 - journals.physiology.org
This article reviews the current state of knowledge about the bestrophins, a newly identified
family of proteins that can function both as Cl− channels and as regulators of voltage-gated …

Retinal assessment using optical coherence tomography

RA Costa, M Skaf, LAS Melo Jr, D Calucci… - Progress in retinal and …, 2006 - Elsevier
Over the 15 years since the original description, optical coherence tomography (OCT) has
become one of the key diagnostic technologies in the ophthalmic subspecialty areas of …

The genetics of inherited macular dystrophies

M Michaelides, DM Hunt, AT Moore - Journal of medical genetics, 2003 - jmg.bmj.com
The inherited macular dystrophies comprise a heterogeneous group of disorders
characterised by central visual loss and atrophy of the macula and underlying retinal …

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

AE Davidson, ID Millar, JE Urquhart… - The American Journal of …, 2009 - cell.com
Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal
pigmented epithelium (RPE) of the retina. Mutations in the BEST1 gene cause the retinal …

Bestrophinopathy: an RPE-photoreceptor interface disease

KE Guziewicz, D Sinha, NM Gómez, K Zorych… - Progress in retinal and …, 2017 - Elsevier
Bestrophinopathies, one of the most common forms of inherited macular degenerations, are
caused by mutations in the BEST1 gene expressed in the retinal pigment epithelium (RPE) …

[HTML][HTML] Assessment of central visual function in Stargardt's disease/fundus flavimaculatus with ultrahigh-resolution optical coherence tomography

E Ergun, B Hermann, M Wirtitsch… - … & visual science, 2005 - tvst.arvojournals.org
purpose. To assess photoreceptor morphology in patients with Stargardt's disease and
fundus flavimaculatus using ultrahigh-resolution optical coherence tomography (UHR-OCT) …

Vitelliform macular dystrophy

RF Spaide, K Noble, A Morgan, KB Freund - Ophthalmology, 2006 - Elsevier
PURPOSE: To investigate and integrate the photographic, angiographic, and tomographic
findings from a group of patients with various stages of vitelliform macular dystrophy type 2 …

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure

KE Guziewicz, AV Cideciyan… - Proceedings of the …, 2018 - National Acad Sciences
Mutations in the BEST1 gene cause detachment of the retina and degeneration of
photoreceptor (PR) cells due to a primary channelopathy in the neighboring retinal pigment …

Functional roles of bestrophins in ocular epithelia

AD Marmorstein, HE Cross, NS Peachey - Progress in retinal and eye …, 2009 - Elsevier
There are four members of the bestrophin family of proteins in the human genome, of which
two are known to be expressed in the eye. The gene BEST1 (formerly VMD2) which …