Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

Completed

• Conditions: Albinism, Ocular

• Registration Number: NCT03959605
• Lead Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary

Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme

Detailed Description

Not available

Study Timeline

• Study Start: 2019-01-06
• Study First Submitted: 2019-05-18
• Study First Submitted QC: 2019-05-21
• Study First Posted: 2019-05-22
• Primary Completion: 2021-02-02
• Status Verified: 2021-10
• Study Completion: 2021-10-01
• Last Update Submitted: 2021-10-20
• Last Update Posted: 2021-10-21

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 48

Inclusion Criteria

• children with albinism
• father and mother of children with albinism

Exclusion Criteria

• sign of albinism except fovea plana in father or mother of children with albinism
• ophthalmological abnormalities making access to the fundus with OCT impossible

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of genetics variants	1 month	among the genes involved in albinism, identification of those presents in parents of children with albinism

Trial Locations

Locations (1)

Fondation A de Rothschild; 🇫🇷 Paris, France