Correlating genetic factors with inherited retinal dystrophies
Phenotype Correlates Genotype of Inherited Retina Dystrophies
This study is trying to see how the genetic makeup of people with inherited retinal dystrophies, like retinitis pigmentosa, relates to their eye symptoms and family history.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 17000 (estimated) |
| Ages | 2 Weeks to 90 Years |
| Sex | All |
| Sponsor | MejoraVisionMD Research network |
| Locations | 1 site (Merida, Yucatan) |
| Trial ID | NCT03990727 on ClinicalTrials.gov |
What this trial studies
This observational study aims to correlate the phenotypic characteristics of patients with inherited retinal dystrophies, such as retinitis pigmentosa and cone dystrophies, with their genotypes. It involves conducting ocular examinations, including retina analysis, autofluorescence, and optical coherence tomography (OCT), along with family mapping and blood sample collection for genetic analysis. The goal is to validate the mode of inheritance through segregation analysis, providing insights into the genetic underpinnings of these conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with inherited retinal dystrophies or retinitis pigmentosa who can comply with annual study visits.
Not a fit: Patients who are unwilling or unable to attend annual visits may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of inherited retinal dystrophies, leading to improved diagnosis and potential future therapies.
How similar studies have performed: Other studies have shown success in correlating genotype with phenotype in retinal dystrophies, indicating that this approach is supported by prior research.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Diagnosis of inherited retina dystrophy or retinitis pigmentosa 2. Must be able to perform all study tests. 3. Must be able to visit every year. Exclusion Criteria: 1) Not willing to visit every year.
Where this trial is running
Merida, Yucatan
- Retina and Genomics Institute — Merida, Yucatan, Mexico (Recruiting)
Study contacts
- Study coordinator: A Villanueva, MD
- Email: dr.villanueva@mejoravisionmd.com
- Phone: 019992233623
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.