Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
Study Details
Study Description
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."
Condition or Disease | Intervention/Treatment | Phase |
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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
Outcome Measures
Primary Outcome Measures
- Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease [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 Outcome Measures
- Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease [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.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Inherited retinal disease
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Age between 4 months and 75 years
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Subject who has clinically confirmed visual impairment including night blindness or photophobia. Subject should meet one of the following criteria
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pigmentary retinopathy in both eyes
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reduced response in photopic or scotopic electroretinogram in both eyes
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photoreceptor degeneration in optical coherence tomography in both eyes
Exclusion Criteria:
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unilateral retinal disease
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Subject who had previously confirmed genetic testing
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Age less than 4 months or more than 75 years
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When congenital infection or trauma are suspicious for the cause of retinal disease
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When age-related macular degeneration, myopic degeneration, autoimmune origin are suspicious for the cause of retinal disease
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No visual impairment or normal electroretinogram (e.g., benign fleck)
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Illiterate subject who can not understand informed consent
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Foreigners
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Gangnam Severance Hospital | Seoul | Korea, Republic of | 06230 |
Sponsors and Collaborators
- Gangnam Severance Hospital
Investigators
- Principal Investigator: Jinu Han, Gangnam Severance Hospital
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 3-2018-0026