Genetic cause inherited visual impairment discovered

Plaatje Frans Cremers

A fruitful collaboration between researchers from the Departments of Human Genetics, Otorhinolaryngology and Ophthalmology in the Radboudumc and the Rotterdam Eye Hospital, led to the identification of a new genetic cause of an inherited eye disorder, cone-rod dystrophy, as published in the top genetic journal 'the American Journal of Human Genetics'. In patients with cone-rod dystrophy, initially the cones of the retina break down which causes problems with seeing colors and details. Later on, the rods also die, giving rise to severe visual impairment or even blindness.

The initial discovery was made in two families with cone-rod dystrophy using the 'next -generation sequencing' method. To provide convincing proof that the rare sequence variants identified in the POC1B gene were causative, the research team analyzed the function of the encoded protein. They found that zebrafish also become blind when POC1B production is disturbed, and that the identified variants indeed disrupt the localization and connectivity of the protein. The researchers think that POC1B plays an important role in transport processes in rods and cones, of which disruption can lead to cone-rod dystrophy.

Frans Cremers
Tel. + 31 24-3613750

Publication AJHG-D-14-00265R2:
Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy. Susanne Roosing*, Ideke J.C. Lamers*, Erik de Vrieze*, L. Ingeborgh van den Born*, Stanley Lambertus, Heleen H. Arts, POC1B Study Group, Theo A. Peters, Carel B. Hoyng, Hannie Kremer, Lisette Hetterschijt, Stef J.F. Letteboer, Erwin van Wijk#, Ronald Roepman#, Anneke I. den Hollander#, and Frans P.M. Cremers#

*,#Shared authorships

Roosing Susanne  Lamers Ideke  Vrieze De , Erik .jpg

Susanne Roosing    Ideke Lamers          Erik de Vrieze

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