Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings

Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings

PURPOSE: Autosomal recessive bestrophinopathy (ARB) is a disease that results from the mutations in the BEST1 gene. It is characterized by multifocal yellowish lipofuscin deposits, cystoid macular edema, and subretinal fluid. Among approximately 270 BEST1 mutations, only 40 that include both heteroz...

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Bibliographic Details
Main Authors: Rika Yamada, Rina Takagi, Sadahiko Iwamoto, Shoichi Shimada, Akihiro Kakehashi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Taiwan Journal of Ophthalmology
Subjects:
best vitelliform macular dystrophy
bestrophin-1
dizygotic twins
genotype–phenotype correlation
macular edema
Online Access:http://www.e-tjo.org/article.asp?issn=2211-5056;year=2021;volume=11;issue=1;spage=71;epage=76;aulast=Yamada

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http://www.e-tjo.org/article.asp?issn=2211-5056;year=2021;volume=11;issue=1;spage=71;epage=76;aulast=Yamada

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