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Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy

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 ele...

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Autores principales: Kim, Hae Rang, Han, Jinu, Kim, Yong Joon, Kang, Hyun Goo, Byeon, Suk Ho, Kim, Sung Soo, Lee, Christopher Seungkyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320462/
https://www.ncbi.nlm.nih.gov/pubmed/35885980
http://dx.doi.org/10.3390/genes13071197
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author Kim, Hae Rang
Han, Jinu
Kim, Yong Joon
Kang, Hyun Goo
Byeon, Suk Ho
Kim, Sung Soo
Lee, Christopher Seungkyu
author_facet Kim, Hae Rang
Han, Jinu
Kim, Yong Joon
Kang, Hyun Goo
Byeon, Suk Ho
Kim, Sung Soo
Lee, Christopher Seungkyu
author_sort Kim, Hae Rang
collection PubMed
description 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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spelling pubmed-93204622022-07-27 Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy Kim, Hae Rang Han, Jinu Kim, Yong Joon Kang, Hyun Goo Byeon, Suk Ho Kim, Sung Soo Lee, Christopher Seungkyu Genes (Basel) Article 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. MDPI 2022-07-04 /pmc/articles/PMC9320462/ /pubmed/35885980 http://dx.doi.org/10.3390/genes13071197 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kim, Hae Rang
Han, Jinu
Kim, Yong Joon
Kang, Hyun Goo
Byeon, Suk Ho
Kim, Sung Soo
Lee, Christopher Seungkyu
Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
title Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
title_full Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
title_fullStr Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
title_full_unstemmed Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
title_short Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
title_sort clinical features and genetic findings of autosomal recessive bestrophinopathy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320462/
https://www.ncbi.nlm.nih.gov/pubmed/35885980
http://dx.doi.org/10.3390/genes13071197
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