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 Overview

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

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

• Study Type: Observational
• Enrollment (Actual): 280

Contacts and Locations

Study Locations

• Korea, Republic of
  • Seoul, Korea, Republic of, 06230
    • Gangnam Severance Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 months to 75 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

"Subject with inherited retinal disease, age between 6 months and 75 years who have not receive molecular genetic testing"

Description

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

Study Plan

How is the study designed?

What is the study measuring?

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)

Collaborators and Investigators

• Sponsor: Gangnam Severance Hospital
• Investigators: Principal Investigator: Jinu Han, Gangnam Severance Hospital

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start (Actual): April 10, 2018
• Primary Completion (Actual): January 20, 2021
• Study Completion (Actual): January 20, 2021

Study Registration Dates

• First Submitted: April 10, 2018
• First Submitted That Met QC Criteria: August 2, 2018
• First Posted (Actual): August 3, 2018

Study Record Updates

• Last Update Posted (Actual): October 25, 2021
• Last Update Submitted That Met QC Criteria: October 18, 2021
• Last Verified: October 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Eye Diseases; Retinal Degeneration; Retinal Diseases; Retinal Dystrophies
• Other Study ID Numbers: 3-2018-0026

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No