Article
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.
Experimental eye research - 1 Jan 2021
Sun Zixi, Yang Lizhu, Li Hui, Zou Xuan, Wang Lei, Wu Shijing, Zhu Tian, Wei Xing, Zhong Yong, Sui Ruifang
Abstract excerpt
ABCA4 gene associated retinal dystrophies (ABCA4-RD) are a group of inherited eye diseases caused by ABCA4 gene mutations, including Stargardt disease, cone-rod dystrophy and retinitis pigmentosa. With the development of next-generation sequencing (NGS), numerous clinical and genetic studies on ABCA4-RD have been performed, and the genotype and phenotype spectra have been elucidated. However, most of the studies...
Topics
- ATP-Binding Cassette Transporters
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- China
- DNA
- DNA Mutational Analysis
- Female
- Fluorescein Angiography