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Karin Littink

Current Research Projects

The aim of my project is to identify the causative gene-defects in patients with autosomal recessive cone-rod dystrophy and Retinitis Pigmentosa. In the outbred Dutch population we previously found homozygous mutations in ~35% of patients with retinal dystrophy. We therefore hypothesize that the parents of these patients share a common ancestor that carries the disease-causing mutation, and that new disease genes can be identified by homozygosity mapping.


In patients with an unknown cause for CRD we searched for sizeable homozygous regions using whole genome SNP arrays. In these regions we analyzed candidate genes for causative mutations.

Selected Publications

  1. Collin RWJ*, Safieh C*, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Cremers FPM, den Hollander AI, Klevering BJ#, Ben-Yosef T#. (2010)
    Mutations in C2ORF71 cause autosomal recessive retinitis pigmentosa.
    Am J Hum Genet, in press
  2. Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RWJ, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FPM, Sharon D. (2010)
    Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
    Invest Ophthalmol Vis Sci, in press
  3. Littink KW, van den Born LI, Koenekoop RK, Collin RWJ, Zonneveld MN, Blokland EAW, Khan H, Theelen T, Hoyng CB, Cremers FPM, den Hollander AI, Klevering BJ. (2010)
    Mutations in the EYS gene account for ~5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Opthalmology, in press
  4. Littink KW, Pott JWR, Collin RWJ, Kroes HY, Verheij JBGM, Blokland EAW, de Castro Miró M, Hoyng CB, Klaver CCW, Koenekoop RK, Rohrschneider K, Cremers FPM, van den Born LI, den Hollander AI. (2010)
    A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
    Invest Ophthalmol Vis Sci, Feb 3. [Epub ahead of print]
  5. Littink KW, van Genderen MM, Collin RWJ, Roosing S, de Brouwer APM, Riemslag FCC, Venselaar H, Thiadens AAHJ, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FPM, den Born LI (2009)
    A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
    Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50
  6. Collin RWJ?, Littink KW?, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EAW, Strom TM, Hoyng CB, den Hollander AI, Cremers FPM (2008)
    Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
    Am J Hum Genet. 2008 Nov;83(5):594-603
Karin Littink
Karin Littink

Research Group

Blindness Genetics


Radboud University Nijmegen Medical Centre
The Rotterdam Eye Hospital

Geert Grooteplein 10
6525 GA
The Netherlands

Phone: 0031 24-3614017
Fax: 0031 24- 36 68752



CV of Karin Littink [pdf]

Research Groups