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

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

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
CRIS
Registry ID
KCT0006735
Enrollment
250
Registered
2021-11-10
Start date
2020-10-08
Completion date
Unknown
Last updated
2021-12-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

None listed

Interventions

None listed

Sponsors

Yonsei University Health System, Severance Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

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

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.)

Design outcomes

Primary

MeasureTime frame
Mutation variant detected after whole exome sequencing

Secondary

MeasureTime frame
Mutation variant commonly found in subjects

Countries

Korea, Republic of

Contacts

Public ContactYuri Seo

Yonsei University Health System, Severance Hospital

yrseo@yuhs.ac+82-2-2228-3572

Outcome results

None listed

Source: CRIS (via WHO ICTRP) · Data processed: Feb 4, 2026