NGS Panel of Incomplete Forms of Ocular Albinism

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

53 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-11-23

Study Completion Date

2024-02-28

Brief Summary

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

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Detailed Description

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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.

Conditions

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Albinism, Ocular

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Patient with a diagnosis of incomplete form of albinism

Blood samples

Intervention Type BIOLOGICAL

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

Interventions

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Blood samples

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

Intervention Type BIOLOGICAL

Eligibility Criteria

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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.