Article
Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
Current gene therapy - 1 Jan 2022
Xiao Xuan, Ye Lin, Chen Changzheng, Zheng Hongmei, Yuan Jiajia
Abstract excerpt
BACKGROUND: Hereditary retinal degeneration (HRD) is an irreversible eye disease that results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 gene. HRD presents a high degree of clinical and genetic heterogeneity. We determined genotypic and phenotypic correlations, in the natural course of clinical observation, of unrelated progenitors of HRD associated with ABCA4. OBJECTIVE: To...
Topics
- ATP-Binding Cassette Transporters
- Genetic Therapy
- Genotype
- Humans
- Mutation
- Phenotype
- Retinal Degeneration
- Retrospective Studies