NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.

doi:10.1097/IAE.0000000000002183

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Article

NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.

Retina (Philadelphia, Pa.) - 1 Aug 2019

Guo Jingli, Gao Fengjuan, Tang Wenyi, Qi Yuhe, Xuan Yi, Liu Wei, Li Lei, Ye Xiaofeng, Xu Gezhi, Wu Jihong, Zhang Yongjin

Abstract excerpt

PURPOSE: To characterize novel BEST1 mutations and the phenotype-genotype correlations in vitelliform macular dystrophy in a Chinese population. METHODS: Seventeen individuals affected by vitelliform macular dystrophy underwent detailed ophthalmic examinations, including a best-corrected visual acuity test, slit-lamp biomicroscopy, fundus photography, spectral-domain optical coherence tomography, fundus...

Topics

Adolescent
Adult
Aged
Asian People
Bestrophins
China
Electrooculography
Electroretinography
Female
Fluorescein Angiography
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation, Missense

Pedigree

Polymorphism, Single Nucleotide

Source

Open in PubMed

Identifiers

PMID: 29781975
DOI: 10.1097/IAE.0000000000002183

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.