Study on the effects of mutations under inherited retinal disease in Korea
- Conditions
- Diseases of the eye and adnexa
- Registration Number
- KCT0003061
- Lead Sponsor
- Yonsei University
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- All
- Target Recruitment
- 560
1) Inherited retinal disease
2) Age between 4 months and 75 years
3) 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
1) unilateral retinal disease
2) Subject who had previously confirmed genetic testing
3) Age less than 4 months or more than 75 years
4) When congenital infection or trauma are suspicious for the cause of retinal disease
5) When age-related macular degeneration, myopic degeneration, autoimmune origin are suspicious for the cause of retinal disease
6) No visual impairment or normal electroretinogram (e.g., benign fleck)
7) Illiterate subject who can not understand informed consent
8) Foreigners
Study & Design
- Study Type
- Observational Study
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Diagnostic rate of whole exome sequencing in Koreans with inherited retinal disease
- Secondary Outcome Measures
Name Time Method The genotype and phenotype correlation in inherited retinal disease