Study on the Effects of Mutations Under Inherited Retinal Disease in Korean

Study Overview
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Brief Summary
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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
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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

Official Title
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Study on the Effects of Mutations Under Inherited Retinal Disease in Korean

Conditions
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Inherited Retinal Dystrophy Primarily Involving Sensory Retina, Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 4 Months
Maximum Age: 75 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease | 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. | 3 years (until December 31, 2020) | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease | 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. | 3 years (until December 31, 2020) |