Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 280
- 试验地点
- 1
- 主要终点
- Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease
研究概览
简要总结
To develop comprehensive genetic maps of inherited retinal diseases in Korean
- Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype correlations, and visual prognosis."
详细描述
Group/ Cohort Label : Subject with age between 6 months and 65 years who have not receive molecular genetic testing Group / Cohort Description : Consecutive subjects with inherited retinal disease who are willing to do genetic testing using whole exome sequencing (n=265) and whole genome sequencing (n=15) and agree to informed consent of the study
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 4 Months 至 75 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Inherited retinal disease
- •Age between 4 months and 75 years
- •Subject who has clinically confirmed visual impairment including night blindness or photophobia. Subject should meet one of the following criteria
- •pigmentary retinopathy in both eyes
- •reduced response in photopic or scotopic electroretinogram in both eyes
- •photoreceptor degeneration in optical coherence tomography in both eyes
排除标准
- •unilateral retinal disease
- •Subject who had previously confirmed genetic testing
- •Age less than 4 months or more than 75 years
- •When congenital infection or trauma are suspicious for the cause of retinal disease
- •When age-related macular degeneration, myopic degeneration, autoimmune origin are suspicious for the cause of retinal disease
- •No visual impairment or normal electroretinogram (e.g., benign fleck)
- •Illiterate subject who can not understand informed consent
- •Foreigners
结局指标
主要结局
Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease
时间窗: 3 years (until December 31, 2020)
patients were grouped in 1) probable molecular diagnosis: patients with pathogenic or likely pathogenic disease-associated variant(s), 2) possible molecular diagnosis: patients with 2 heterozygous mutations without segregation analysis, or patients harboring a single pathogenic or likely pathogenic disease-associated variant in a gene linked with recessive traits, provided the patient phenotype matches the known spectrum of clinical features for this gene, 3) unsolved: all other patients for which no pathogenic or likely pathogenic disease-associated variants were detected.
次要结局
- Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease(3 years (until December 31, 2020))
研究者
Jinu Han
Associate Professor
Gangnam Severance Hospital