Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.

ABSTRACT:

Purpose

To review all reported disease-causing mutations in BEST1, perform genotype-phenotype correlation, and estimate disease prevalence in the Israeli population.

Methods

Medical records of patients diagnosed with Best disease and allied diseases from nine Israeli medical centers over the past 20 years were collected, as were clinical data including ocular findings, electrophysiology results, and retina imaging. Mutation detection involved mainly whole exome sequencing and candidate gene analysis. Demographic data were obtained from the Israeli Bureau of Statistics (January 2023). A bibliometric study was also conducted to gather mutation data from online sources.

Results

A total of 134 patients were clinically diagnosed with Best disease and related conditions. Th

SUBMITTER: Beryozkin A 

PROVIDER: S-EPMC10910552 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature