Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

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

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Key information

Conditions

Albinism, Ocular Albinism Amino Acid Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hypopigmentation Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pigmentation Disorders Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Fondation A de Rothschild

Paris, 75019, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

blood sample for genetic test

Genetic

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

Ophtalmological examination

Diagnostic Test

measurement of visual acuity, OCT and OCTA

Primary outcomes

Number of genetics variants

Time frame: 1 month

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

Sponsors and collaborators

Lead sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Network

Registry information

Acronym: ALAFOR

Important dates

Study start: 2019
Primary completion: 2021
Study completion: 2021
First posted: May 22, 2019
Registry last updated: Oct 21, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed