Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium, Inherited Retinal Dystrophy Primarily Involving Sensory Retina
Conditions
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
Interventions
None listed
Sponsors
Gangnam Severance Hospital
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
4 Months to 75 Years
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
South Korea
Outcome results
None listed