Hollander den

The main research goal is to resolve the molecular basis of inherited blindness. One research interest focuses on monogenic forms of retinal degeneration, in particular Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. New disease genes are identified by genome-wide identity-by-descent mapping combined with next-generation (exome) sequencing. More recently the research interest shifted towards multifactorial eye diseases. Age-related macular degeneration and glaucoma are the most common causes of vision loss in the Western world, and are caused by a combination of genetic and environmental factors. Understanding the molecular basis of these diseases will lead to greater insight in the development and homeostasis of the retina, and ultimately will help develop therapeutic strategies in the future.

• Smailhodzic D, Klaver CC, Klevering BJ, Boon CJ, Groenewoud JM, Kirchhof B, Daha MR, den Hollander AI, Hoyng CB. Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration. Ophthalmology 119:339-346, 2012.

• den Hollander AI, Black A, Bennett J, Cremers FP. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest. 120:3042-53, 2010.

• Bandah-Rozenfeld D, Collin RW, Banin E, van den Born LI, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet.87:199-208, 2010.

• Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI. Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet. 82:516-23, 2008.

• den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 39:889-95, 2007.