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

Yonsei University Health System (YUHS)

Status: Completed

Conditions: Inherited Retinal Dystrophy Primarily Involving Sensory Retina; Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium

Study type: Observational

Funder types: Other

Identifiers

NCT03613948

3-2018-0026

Details and patient eligibility

About

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."

Full 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

Enrollment: 280 patients

Sex: All

Ages: 4 months to 75 years old

Volunteers: No Healthy Volunteers

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