Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03959605

Acronym

ALAFOR

Enrollment

Registered

2019-05-22

Start date

2019-01-06

Completion date

2021-10-01

Last updated

2021-10-21

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

Conditions

Albinism, Ocular

Brief summary

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

Interventions

GENETICblood sample for genetic test

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

DIAGNOSTIC_TESTOphtalmological examination

measurement of visual acuity, OCT and OCTA

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

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

Countries

France

Outcome results

None listed

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