Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

  title={Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.},
  author={Karin W. Littink and Robert Koenekoop and L. Ingeborgh van den Born and Rob W J Collin and Luminita Moruz and Joris A. Veltman and Susanne Roosing and Marijke N. Zonneveld and Amer Omar and Mahshad Darvish and I. L{\'o}pez and Hester Y. Kroes and Maria M. van Genderen and Carel B. Hoyng and Klaus Rohrschneider and Mary J van Schooneveld and Frans P. M. Cremers and Anneke I. den Hollander},
  journal={Investigative ophthalmology & visual science},
  volume={51 11},
PURPOSE To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients. METHODS One hundred thirty-nine patients with diagnosed CRD were recruited. Ninety of them were screened for known mutations in ABCA4, and those carrying one or two mutations were excluded from further research. Genome-wide homozygosity mapping was performed in the remaining 108. Known genes associated with autosomal recessive retinal… CONTINUE READING


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Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa

MM Abd El-Aziz, CA O’Driscoll, RS Kaye
Invest Ophthalmol Vis Sci • 2010

Mutations in the EYS gene account for 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

KW Littink, LI van den Born, RK Koenekoop
Ophthalmology. Published online May 27, • 2010
View 1 Excerpt

Sequencing technologies — the next generation

Nature Reviews Genetics • 2010
View 1 Excerpt

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