New Strategies of Genetic Study of Patients With Oculocutaneous Albinism (GENALB)

University Hospital of Bordeaux

Status: Completed

Conditions: Mutation; Oculocutaneous Albinism

Treatments: Other: Genetic analyzes

Study type: Observational

Funder types: Other

Identifiers

NCT04068961

CHUBX 2010/31

Details and patient eligibility

About

The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.

Full description

The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.

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Enrollment: 64 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

-Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes)

Exclusion criteria

None