Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Gangnam Severance Hospital
- Enrollment
- 280
- Locations
- 1
- Primary Endpoint
- Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease
Study Overview
Brief Summary
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."
Detailed Description
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
Study Design
- Study Type
- Observational
- Observational Model
- Case Only
- Time Perspective
- Cross Sectional
Eligibility Criteria
- Ages
- 4 Months to 75 Years (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •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
Exclusion Criteria
- •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
Outcomes
Primary Outcomes
Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease
Time Frame: 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.
Secondary Outcomes
- Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease(3 years (until December 31, 2020))
Investigators
Jinu Han
Associate Professor
Gangnam Severance Hospital