A novel BEST1 mutation in autosomal recessive bestrophinopathy

Medicine and Dentistry

• Bestrophin 1 100%
• Autosomal Recessive Inheritance 60%
• Mutant 50%
• Patient 40%
• Cells 30%
• In Vitro 20%
• Spectral Domain Optical Coherence Tomography 20%
• Genetic Analysis 20%
• Chloride Conductance 20%
• Diagnosis 10%
• Phenotype 10%
• Visual Acuity 10%
• Whole Cell 10%
• Sanger Sequencing 10%
• Agents Acting on the Eye 10%
• Fundus Photography 10%
• Autofluorescence 10%
• Macular Edema 10%
• Bevacizumab 10%
• Gene 10%
• Posterior Pole 10%
• Electroretinography 10%
• Injection 10%
• Retina Vein Occlusion 10%
• Dilated Fundus Examination 10%
• Electrooculography 10%
• Fundus Fluorescein Angiography 10%
• Examination 10%
• Female 10%
• Family 10%