Posterior staphyloma risk and anatomy in Europeans with high myopia

Risk of Posterior Staphyloma in Highly Myopic Europeans : From Epidemiology to Anatomy.

This project will try to find genetic differences and blood markers linked to posterior staphyloma in adults of European descent who have high myopia.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 200 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Assistance Publique - Hôpitaux de Paris (Academic / other)
• Locations: 1 site (Paris)
• Trial ID: NCT06949579 on ClinicalTrials.gov

What this trial studies

This multi-center, cross-sectional project will enroll 600 European adults with high myopia across three centers in France, Spain, and the Netherlands and collect blood for DNA and standardized retinal imaging. Participants will be divided into 300 with posterior staphyloma and 300 without, and a genome-wide association study (GWAS) will compare SNP frequencies between the two groups while adjusting for age, sex, axial length, and genetic ancestry. Significant loci will undergo functional annotation and pathway enrichment analyses, and exploratory analyses will relate genetic findings to retinal imaging phenotypes. All clinical and genetic data will be entered into a centralized Castor database under a harmonized protocol to ensure uniform phenotyping.

Who should consider this trial

Good fit: Adults (≥18 years) of European ancestry with high myopia (axial length ≥26.0 mm or ≤ −6.0 diopters), good-quality retinal imaging, the ability to consent, and social security coverage are ideal candidates.

Not a fit: Patients with systemic or ocular conditions affecting the posterior segment (for example diabetes, systemic inflammatory disease, retinitis pigmentosa, syndromic or genetically-associated myopia) are excluded and are unlikely to benefit from this genetic-focused project.

Why it matters

Potential benefit: If successful, the findings could help identify people at higher genetic risk for posterior staphyloma and point to biological pathways that may enable earlier monitoring or guide future treatments.

How similar studies have performed: Large GWAS have successfully identified genetic risk factors for general myopia, but applying GWAS specifically to posterior staphyloma in well-phenotyped European cohorts is relatively novel.

Eligibility criteria

Inclusion Criteria:

* Adults with high myopia (axial length ≥ 26.00 mm or degree of myopia of at least -6 diopters), with and without posterior staphyloma

  * Adults aged 18 years or over
  * Patient with high myopia (axial length ≥ 26.00 mm or degree of myopia of at least -6 diopters), with good quality retinal imaging
  * Patient who has signed a consent form to participate in the study
  * Patient who is a beneficiary of a social security scheme or who is entitled to it

Exclusion Criteria:

* Any systemic or ocular pathologies with an impact on the posterior segment of the eye

  * Patient with a systemic pathology likely to affect the posterior segment of the eye:
  * Diabetes
  * Systemic inflammatory disease: sarcoidosis, rheumatoid arthritis, systemic lupus erythematosus, Horton's disease
  * Patients with retinitis pigmentosa
  * Patients with syndromic myopia
  * Patients with myopia associated with a genetic disease such as hereditary vitreoretinopathy
  * Patients under guardianship, curatorship or legal protection, as well as pregnant or breastfeeding women (article L1121-5 of the CSP).

Where this trial is running

Paris

• Cochin Hospital — Paris, France (Recruiting)

Study contacts

• Principal investigator: Francine BEHAR-COHEN, MD,PhD — Assistance Publique - Hôpitaux de Paris
• Study coordinator: Francine Behar-Cohen, MD, PhD

Conditions High Myopia; High myopia; Myopic staphyloma