Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

48 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-01-06

Study Completion Date

2021-10-01

Brief Summary

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

Detailed Description

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Conditions

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Albinism, Ocular

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Interventions

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blood sample for genetic test

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

Intervention Type GENETIC

Ophtalmological examination

measurement of visual acuity, OCT and OCTA

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Martine MAUGET FAYSSE

Role: PRINCIPAL_INVESTIGATOR

Fondation A. de Rothschild

Locations

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Fondation A de Rothschild

Paris, , France

Site Status

Countries

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France

Other Identifiers

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MMT_2019_2

Identifier Type: -

Identifier Source: org_study_id