Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

doi:10.3109/09286586.2012.737890

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Article

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Ophthalmic epidemiology - 1 Jan 2013

Bocquet Beatrice, Lacroux Annie, Surget Marie-Odile, Baudoin Corinne, Marquette Virginie, Manes Gael, Hebrard Maxime, Sénéchal Audrey, Delettre Cecile, Roux Anne-Francoise, Claustres Mireille, Dhaenens Claire-Marie, Rozet Jean-Michel, Perrault Isabelle, Bonnefont Jean-Paul, Kaplan Josseline, Dollfus Helene, Amati-Bonneau Patrizia, Bonneau Dominique, Reynier Pascal, Audo Isabelle, Zeitz Christina, Sahel José Alain, Paquis-Flucklinger Veronique, Calvas Patrick, Arveiler Benoit, Kohl Suzanne, Wissinger Bernd, Blanchet Catherine, Meunier Isabelle, Hamel Christian P

Abstract excerpt

PURPOSE: Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France. METHODS: Patients recruited from a specialized outpatient clinic over a 21-year period underwent extensive clinical investigations and 107 genes were screened by polymerase chain...

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PMID: 23350551
DOI: 10.3109/09286586.2012.737890

Genes

ABCA4
PRPH2
RPGR

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