Identification of candidate gene for pathologic myopia in Korean using exome wide association study

Not Applicable

Recruiting

• Conditions: Diseases of the eye and adnexa

• Registration Number: KCT0006735
• Lead Sponsor: Yonsei University Health System, Severance Hospital

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 2 December 2021

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 250

Inclusion Criteria

Those who are 3 years of age or older at the time of selection and meet the conditions of ? or ?
? Refractive error> -6.0D or axial length> or = 26.5mm and myopic CNV was diagnosed.
? Diagnosis Criteria for Myopic CNV: When one of subretinal hemorrhage, hyperreflective lesion, intraretinal fluid, subretinal fluid, or RPE detachement is found on OCT (Ocular Optical Tomography).
? Refractive error> -9.0D or axial length> 28mm, and there is a family history of pathologic myopia.
• Pathologic myopia criteria (one of the following)
? Refractive error> -9.0D or axial length> 28mm
? Have a history of Myopic maculopathy or posterior staphyloma

Exclusion Criteria

? If the selection criteria are satisfied, but have a history of other retinal diseases such as diabetic retinopathy, uveitis, retinopathy of prematurity, and senile macular degeneration.
? If the selection criteria are satisfied, but there is a history of being diagnosed with other systemic diseases that may cause high myopia (Stickler syndrome, Marshall syndrome, Wagner syndrome, Ehlers Danlos syndrome, etc.)

Study & Design

• Study Type: Observational Study
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Mutation variant detected after whole exome sequencing

Secondary Outcome Measures

Name	Time	Method
Mutation variant commonly found in subjects