Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children (ALAFOR)

Fondation Ophtalmologique Adolphe de Rothschild

Status: Completed

Conditions: Albinism, Ocular

Treatments: Diagnostic Test: Ophtalmological examination; Genetic: blood sample for genetic test

Study type: Observational

Funder types: NETWORK

Identifiers

NCT03959605

MMT_2019_2

Details and patient eligibility

About

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

Enrollment: 48 patients

Sex: All

Ages: 18+ years old

Volunteers: No 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