An observational study in Albinism, Ocular, sponsored by University Hospital, Bordeaux. Completed at 1 site in France. Open to participants aged 0 Years and older. Per ClinicalTrials.gov, last updated 2024-09-19.
Sponsored by University Hospital, Bordeaux · Observational
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.
Patient with 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 and having a specialized consultation in CHU de Bordeaux
Exclusion Criteria:
Biological: Blood samples
Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.
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
This study is completed, as verified in Sep 2024. You cannot join it, but the record below documents what was studied.
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University Hospital, Bordeaux