NGS Panel of Incomplete Forms of Ocular Albinism

University Hospital, Bordeaux53 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Albinism, Ocular

Interventions

Blood samplesBIOLOGICAL

Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.

Eligibility

Sex: ALLMin age: 0 Years

Medical Language ↔ Plain English

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: * Refusal to participate in research protocol.

Locations (1)

Centre Hospitalier Universitaire de Bordeaux

Bordeaux, France

Outcomes

Primary Outcomes

Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes

the prevalence of finding at least two pathogenic variants is 10%.

Time frame: Enrollment

Data from ClinicalTrials.gov

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