Branch retina vein occlusion combined with angle-closure glaucoma is associated with a mutation in BEST1: a case report

Abstract

Abstract Background It is rare for a patient to be diagnosed with branch retina vein occlusion (BRVO), angle-closure glaucoma (ACG) and autosomal recessive bestrophinopathy (ARB). ARB is strongly associated with ACG. Although glaucoma is a significant risk factor for RVO, there is a plausible relationship between ACG and BRVO. To discuss correlation of these diseases is necessary. Case presentation The genetic testing and medical treatment of a patient with ocular fundus diseases and ACG were recorded. We present a 47-year-old male patient with BRVO who was diagnosed with angle-closure glaucoma and a homozygous mutation of c.140G > A (p.R47H) in BEST1. Intravitreal ranibizumab was administered in combination with three antiglaucomatous eyedrops to lower intraocular pressure (IOP) in the right eye. One month later, BCVA improved to 0.3. IOP was controlled at 13 mmHg. Conclusions ACG was likely combined to ARB, while there’s a plausible relationship between ACG and BRVO.

Keywords

• Autosomal recessive bestrophinopathy
• BEST1
• Angle-closure glaucoma
• Branch retina vein occlusion
• Case report