Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

N/ACompletedNCT03959605

Fondation Ophtalmologique Adolphe de Rothschild48 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Albinism, Ocular

Interventions

blood sample for genetic testGENETIC

detection of pathogenic variants among the 19 genes known to be involved in albinism

Ophtalmological examinationDIAGNOSTIC_TEST

measurement of visual acuity, OCT and OCTA

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Fondation A de Rothschild

Paris, France

Outcomes

Primary Outcomes

Number of genetics variants

among the genes involved in albinism, identification of those presents in parents of children with albinism

Time frame: 1 month

Data from ClinicalTrials.gov

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