نتایج جستجو برای: best vitelliform dystrophy
تعداد نتایج: 402760 فیلتر نتایج به سال:
PURPOSE To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene. METHODS Best VMD patients with BEST1 mutations were evaluated prospectively regarding age, age of onset, best-corrected visual acuity (BCVA), fundus autofluorescence, fluorescein angiography, optical coherence tomography, and electro-oculography. Mutations in ...
We report the case of 22-year-old white female who presented for a routine ocular examination and displayed Best's disease in her right eye and butterfly-shaped macular dystrophy in her left eye. These diagnoses were confirmed by fluorescein angiography, EOG, and ERG. The fact that these 2 disorders are present in one person suggests that they are only different manifestations of the same under...
PURPOSE To describe the morphologic and functional characteristics of subclinical Best vitelliform macular dystrophy (VMD) in subjects with mutation in the BEST1 gene. METHODS Best-corrected visual acuity (BCVA), funduscopic appearance, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), and electro-oculography (EOG) were assessed in 23 consecutive subjects f...
Purpose: The mutations responsible for Best vitelliform macular dystrophy (BVMD) are found in a gene called VMD2. The VMD2 gene encodes a transmembrane protein named bestrophin-1 (hBest1) which is a Casensitive chloride channel. This study was performed to identify disease-specific mutations in 27 patients with BVMD. Because this disease is characterised by an alteration in Cl channel function,...
PURPOSE The mutations responsible for Best vitelliform macular dystrophy (BVMD) are found in a gene called VMD2. The VMD2 gene encodes a transmembrane protein named bestrophin-1 (hBest1) which is a Ca(2+)-sensitive chloride channel. This study was performed to identify disease-specific mutations in 27 patients with BVMD. Because this disease is characterised by an alteration in Cl(-) channel fu...
To cite: Kumar V, Chandra P, Kumar A. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212832 DESCRIPTION A 28-year-old woman presented with decreased vision in her right eye for the past 6 months. She also reported several years of low vision in both eyes. There was no history of ocular trauma or previous laser photocoagulation. Best-corrected visual acuity (B...
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