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

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

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."

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

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