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PLoS ONE, 05/2013, Volume 8, Issue 5
Background The genes FTO and GNB3 are implicated in essential hypertension but their interaction remains to be explored. This study investigates the role of... 
Best disease
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 03/2019, Volume 39, Issue 3, pp. 558 - 569
To examine the involvement of the retinal pigment epithelium (RPE) in the presence of vitelliform macular lesions (VML) in Best vitelliform macular dystrophy... 
Polarization-sensitive optical coherence tomography | Autosomal recessive bestrophinopathy | Optical coherence tomography | Best disease | Retinal pigment epithelium
Journal Article
Archivos de la Sociedad Espanola de Oftalmologia, ISSN 0365-6691, 09/2018, Volume 93, Issue 9, pp. 454 - 457
Clinical case: A 43-year-old man was treated for reduced visual acuity, initially attributed to strabismic amblyopia. On fundus examination, bilateral... 
Neurosensory retinal detachment | Best vitelliform macular dystrophy | Best disease
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 12/2018, Volume 38, Issue 12, pp. 2379 - 2386
Purpose: To report on the presence of hyperreflective foci (HF) on spectral domain optical coherence tomography in patients with Best vitelliform macular... 
EYES | intraretinal hyperreflective foci | optical coherence tomography | DISEASE | OPHTHALMOLOGY | DOTS | Best disease | LESIONS | DEGENERATION | Eye diseases | Development and progression | Care and treatment | Usage | Diagnosis | Optical tomography
Journal Article
Retina, ISSN 0275-004X, 04/2017, Volume 38, Issue 5, pp. 1041 - 1046
Purpose: To provide a systematic classification of findings regarding the different stages of vitelliform macular dystrophy on spectral domain optical... 
best disease | vitelliform macular dystrophy | PATTERN | optical coherence tomography | FUNDUS AUTOFLUORESCENCE | OPHTHALMOLOGY | MUTATIONS | Eye diseases | Usage | Care and treatment | Diagnosis | Optical tomography | Index Medicus
Journal Article
European Journal of Ophthalmology, ISSN 1120-6721, 03/2017, Volume 27, Issue 2, pp. 201 - 204
Purpose: To analyze spectral-domain optical coherence tomography (SD-OCT)-specific findings in the different stages of vitelliform macular dystrophy (VMD).... 
Optical coherence tomography | Best disease | Vitelliform macular dystrophy | OPHTHALMOLOGY | FUNDUS AUTOFLUORESCENCE | LESIONS
Journal Article
2019, ISBN 0444640320, Volume 160
The electrooculogram (EOG) measures the cornea-positive standing potential relative to the back of the eye. By attaching skin electrodes outside the eye near... 
Electrooculogram | Arden ratio | Adult vitelliform dystrophy | Pigment epithelium | Lipofuscin | Best disease | Bestrophin | Best1
Book Chapter
Seminars in Ophthalmology, ISSN 0882-0538, 02/2018, Volume 33, Issue 2, pp. 161 - 166
Aim: To investigate the presence of focal choroidal excavation (FCE) in patients with retinitis pigmentosa (RP), Stargardt's disease (STGD), and Best disease... 
Focal choroidal excavation | retinal dystrophy | Stargardts disease | Best disease | Retinitis pigmentosa | OPHTHALMOLOGY | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2013, Volume 22, Issue 3, pp. 593 - 607
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 02/2018, Volume 38, Issue 2, pp. 379 - 386
Purpose: To evaluate the electrooculogram (EOG) in a large series of patients with Best disease and autosomal recessive bestrophinopathy. Methods: A... 
retinal dystrophy | autosomal bestrophinopathy | Best-related retinopathy | Best disease | retina | electrooculography | VMD2 GENE | VITELLIFORM MACULAR DYSTROPHY | POTENTIALS | DEGENERATION | FAMILIES | OPHTHALMOLOGY | RETINOPATHY | MUTATIONS | LIGHT-RISE | CELL | ONSET | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2015, Volume 112, Issue 20, pp. E2630 - E2639
Journal Article
Experimental Eye Research, ISSN 0014-4835, 01/2017, Volume 154, pp. 139 - 150
Chloride channels (Cl channels) play an essential role for the retinal pigment epithelium (RPE). They provide a plasma membrane conductance for Cl important... 
Chloride | Ca2+-dependent chloride channels | anoctamin2 | ATP | RPE | Ano2 | dependent chloride channels | CELLS | CHLORIDE CHANNELS | RAT | ION-TRANSPORT | BEST-DISEASE | BESTROPHIN FAMILY | INTRACELLULAR CA2 | XENOPUS-LAEVIS | CYCLIC-AMP | OPHTHALMOLOGY | FLUID TRANSPORT | Index Medicus
Journal Article
ELIFE, ISSN 2050-084X, 10/2017, Volume 6
Mutations in the human BEST1 gene lead to retinal degenerative diseases displaying progressive vision loss and even blindness. BESTROPHIN1, encoded by BEST1,... 
CHLORIDE CHANNELS | GENE | BEST-DISEASE | BIOLOGY | VITELLIFORM MACULAR DYSTROPHY | ION CHANNELS | MEMBRANE-PROTEINS | CA2+-ACTIVATED CL-CHANNEL | LIGHT PEAK | VMD2 | RETINAL-PIGMENT EPITHELIUM
Journal Article
JOURNAL OF NEUROSCIENCE, ISSN 0270-6474, 05/2008, Volume 28, Issue 22, pp. 5660 - 5670
Mutations in the bestrophin-1 ( Best1) gene are linked to several kinds of macular degeneration in both humans and dogs. Although bestrophins have been shown... 
ALPHA SUBUNIT | calcium | BEST-DISEASE | VMD2 GENE | BETA-SUBUNITS | VITELLIFORM MACULAR DYSTROPHY | GATED CALCIUM-CHANNELS | LIGHT PEAK | NEUROSCIENCES | macular degeneration | ion channel | src-homology | chloride | retinal pigment epithelium | CHLORIDE CHANNEL | MOUSE BESTROPHIN-2 | RETINAL-PIGMENT EPITHELIUM
Journal Article