Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy

• Published in: Genes 2022-07, Vol.13 (7), p.1197
• Main Authors: Kim, Hae Rang, Han, Jinu, Kim, Yong Joon, Kang, Hyun Goo, Byeon, Suk Ho, Kim, Sung Soo, Lee, Christopher Seungkyu
• Format: Article
• Language: English
• Subjects: Acuity; Diagnosis; Edema; Eye diseases; Genetic aspects; Genetic disorders; Genetic diversity; Genetic screening; Genetic variation; Glaucoma; Mutation; Patients; Phenotypes; Photography
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes13071197

Autosomal recessive bestrophinopathy (ARB) is a rare subtype of bestrophinopathy caused by biallelic mutations of the BEST1 gene. ARB is characterized by multifocal subretinal deposits accompanied by macular edema or subretinal fluid, hyperopia, co-existing narrow angle, and a marked decrease in electrooculogram. However, little is known about the genetic variants and specific clinical features of ARB. This is an observational case series of patients with a clinical and genetic diagnosis of ARB who underwent multimodal imaging. We describe ten patients from nine unrelated families with six known variants and three novel missense variants: c.236C→T, p.(Ser79Phe); C.452C→T, p.(Leu151Pro); and c.650C→T, p.(Trp217Met). The most common variant was c.584C→T, p.(Ala195Val), observed in six patients, without correlation to the severity of the phenotype. All patients manifested bilateral multifocal subretinal deposits and subretinal fluid throughout the follow-up period, while intraretinal fluid was found in approximately half of the eyes. The extent or chronicity of the fluid collection did not correlate with visual acuity. Angle-closure glaucoma was present in five eyes. Three patients had a genetically confirmed family history of ARB, and one patient had a clinically suspected family history. This study reveals novel mutations in the BEST1 gene and adds to the spectrum of clinical presentations of ARB.