Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.

Phenotype Correlates Genotype of Inherited Retina Dystrophies

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03990727

Enrollment

17000

Registered

2019-06-19

Start date

2009-08-31

Completion date

2025-09-30

Last updated

2019-06-19

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

Conditions

Cone Dystrophy, Retina; Dystrophy, Retinitis Pigmentosa, Usher Syndromes

Brief summary

Patients with retina dystrophies (retinitis pigmentosa, cone\>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.

Detailed description

Patients with retina dystrophies (retinitis pigmentosa, cone\>rods dystrophies, Usher and syndromic, etc.) will be correlated with genotype and validate inheritance mode by segregation analysis. Ocular exam of proband, parents and two unaffected siblings is needed, retina analysis, autofluorescence and ocular coherence tomography (OCT) are needed as well as family map. Blood samples 10ml max blood extraction will be sent and genotype will be analyzed.

Interventions

DIAGNOSTIC_TESTRetina Analysis-mosaic

Fundus retina pattern study

DIAGNOSTIC_TESTAutofluorescence

Fundus reflectance-functionality

DIAGNOSTIC_TESTOCT- 1 micra

Fine tomography fundus retina

PROCEDUREGenotype analysis

Molecular target retina dystrophy analysis

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Weeks to 90 Years

Healthy volunteers

Yes

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.

Design outcomes

Primary

Measure	Time frame	Description
Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis,	8 years	Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography.

Secondary

Measure	Time frame	Description
Preliminary Natural History	5 years	Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame

Countries

Mexico

Contacts

Primary ContactA Villanueva, MD

dr.villanueva@mejoravisionmd.com019992233623

Backup ContactGelly Cuevas, MS

research.biobanks@mejoravisionmd.com+521 (999) 4060506

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026