NGS Panel of Incomplete Forms of Ocular Albinism (DIA)

University Hospital of Bordeaux

Status

Completed

Conditions

Albinism, Ocular

Treatments

Biological: Blood samples

Study type

Observational

Funder types

Other

Identifiers

NCT04495218

CHUBX 2019/52

Details and patient eligibility

About

Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.

Full description

Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopigmentation, translucent irides and nystagmus. The molecular genetic lab at Bordeaux University Hospital is the national reference for the study of this disease. More than 1400 patients have been analyzed with a strategy including next-generation sequencing of the 19 known genes of albinism and array-CGH. Despite this thorough analysis, 25% of patients remain without molecular diagnosis. Our experience tells us that these patients often show an incomplete form of albinism with the presence of only few ophthalmologic signs. The molecular diagnosis is very challenging as the phenotype often overlaps with other ophthalmologic disorders.

Enrollment

53 patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

Minor and adult patient.
Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm.
Registered for the social security system.
Informed consent signed by patient or parent of a minor patient.

Exclusion criteria