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."

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Cross-Sectional
  • Study Primary Completion Date: January 20, 2021

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 and agree to informed consent of the study

Clinical Trial Outcome Measures

Primary Measures

  • Diagnostic rate of whole exome sequencing in Koreans with inherited retinal disease
    • Time Frame: 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.

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 4 Months

Maximum Age: 75 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Gangnam Severance Hospital
  • Provider of Information About this Clinical Study
    • Principal Investigator: Jinu Han, Associate Professor – Gangnam Severance Hospital
  • Overall Official(s)
    • Jinu Han, Principal Investigator, Gangnam Severance Hospital

Citations Reporting on Results

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.

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