Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD

Fondation Ophtalmologique Adolphe de Rothschild

Status: Terminated

Conditions: Hereditary Retinal Dystrophies

Treatments: Procedure: OCT-A; Procedure: Visual acuity (ETDRS)

Study type: Observational

Funder types: NETWORK

Identifiers

NCT03662386

EBA_2017_21

Details and patient eligibility

About

This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.

The information drawn from these analyzes will provide a better understanding of the pathophysiology of these rare diseases and this may ultimately impact the medical management of patients (targeted therapy).

Enrollment: 103 patients

Sex: All

Ages: 15+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients hospitalized for suspicion of hereditary retinal dystrophy
• Benefiting as part of the care of a genetic analysis

Exclusion criteria

- Patient under a measure of legal protection

Trial design

103 participants in 1 patient group

Patients with suspicion of hereditary retinal dystrophy

Treatment:

Procedure: Visual acuity (ETDRS)

Procedure: OCT-A