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Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy

 Hae Rang Kim  ;  Jinu Han  ;  Yong Joon Kim  ;  Hyun Goo Kang  ;  Suk Ho Byeon  ;  Sung Soo Kim  ;  Christopher Seungkyu Lee 
 GENES, Vol.13(7) : 1197, 2022-07 
Journal Title
Issue Date
Angiotensin Receptor Antagonists* ; Angiotensin-Converting Enzyme Inhibitors ; Bestrophins / genetics ; Chloride Channels / genetics ; DNA Mutational Analysis ; Electroretinography* ; Eye Diseases, Hereditary ; Mutation ; Pedigree ; Retinal Diseases ; Tomography, Optical Coherence
BEST1 gene ; autosomal recessive bestrophinopathy (ARB)
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.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hyun Goo(강현구) ORCID logo https://orcid.org/0000-0001-8359-9618
Kim, Sung Soo(김성수) ORCID logo https://orcid.org/0000-0002-0574-7993
Kim, Yong Joon(김용준)
Byeon, Suk Ho(변석호) ORCID logo https://orcid.org/0000-0001-8101-0830
Lee, Christopher Seungkyu(이승규) ORCID logo https://orcid.org/0000-0001-5054-9470
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
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