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

@article{Bocquet2013RelativeFO,
  title={Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.},
  author={B{\'e}atrice Bocquet and Annie Lacroux and Marie-Odile Surget and Corinne Baudoin and Virginie Marquette and Gael Manes and Maxime Hebrard and Audrey S{\'e}n{\'e}{\'c}hal and C{\'e}cile Delettre and Anne-Françoise Roux and Mireille Claustres and C M Dhaenens and J. -M. Rozet and Isabelle Perrault and J L Bonnefont and Josseline Kaplan and H{\'e}l{\`e}ne J Dollfus and Patrizia Amati-Bonneau and D. Bonneau and Pascal Reynier and Isabelle Audo and Christina Zeitz and Jos{\'e} Alain Sahel and V{\'e}ronique Paquis-Flucklinger and Patrick Calvas and Beno{\^i}t Arveiler and Suzanne Kohl and Bernd Wissinger and Catherine Lazor Blanchet and Isabelle Meunier and Christian P. Hamel},
  journal={Ophthalmic epidemiology},
  year={2013},
  volume={20 1},
  pages={
          13-25
        }
}
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 reaction/sequencing. RESULTS There were 1957 IRD cases (1481 families) distributed… CONTINUE READING
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