EPOS

European Paediatric Ophthalmological Society

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04 A national ophthalmic genetics database

Rosenberg, T.
National Eye Clinic for the Visual Impaired, Hellerup, Denmark

Purpose: To demonstrate the value of patient registers in genetic counsling and genetic research.

Methods: Data collection from several sources, data validation based on ophthalmological examinations and genealogical studies, registration in a dedicated database, PEDIPLOT, and DNA banking.

Results: The database includes approx. 30,000 persons including 6,000 affectzed on approx. 40 different diagnoses. Several ophthalmic genetic and molecular studies have emerged including gene identifications, mutation spectrums, and phenotype-genotype relations.

Conclusion: Population-based ophthalmic genetic databases are valuable tools in clinical and molecular genetic collaborative studies.