New Strategies of Genetic Study of Patients With Oculocutaneous 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

64 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-09-15

Study Completion Date

2010-10-31

Brief Summary

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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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Detailed Description

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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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Conditions

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Oculocutaneous Albinism Mutation

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Interventions

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Genetic analyzes

Analysis by CGH array, homozygotic cartography and candidate gene sequencing

Intervention Type OTHER

Eligibility Criteria

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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)