Retinal dystrophies
During the past few years, exciting progress has been made in developing gene augmentation therapies to correct genetic defects causing retinal dystrophies. A prerequisite for this type of therapy is that the underlying genetic defect in patients is known. To better understand the causes and natural history of retinal dystrophies, our research group founded the RP5000 consortium, a national collaboration between ophthalmologists and geneticists in the Netherlands. In preparation of future clinical trials, our group is developing and implementing new imaging techniques for the comprehensive functional assessment of the retina.
| Contact | |
| Name: | B. Jeroen Klevering |
| Telephone: | 024-3687049 |
| Email: | Jeroen.Klevering@radboudumc.nl |
| Visiting address: |
Department of Ophthalmology / HP 409 |
| Postal address: | |
| Key grants and prizes |
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2010: SOE lecture of the Dutch Ophthalmic Society (Klevering) |
| Publications |
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Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E, European Retinal Disease Consortium, den Hollander AI, Klevering BJ, Cremers FPM (2012). Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal recessive retinal dystrophies with early macular involvement. Am J Hum Genet 90:102-109. 2. Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ (2011). Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging. Invest Ophthalmol Vis Sci 52:8908-8918. 3. Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ (2010). Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology. 117(10):2026-33 4. Boon CJF, Klevering BJ, Leroy BP, Hoyng CB, Keunen JEE, den Hollander AI. (2009) The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 28, 187-205 5. Boon CJF, Klevering BJ, Cremers FPM, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB. (2009). Central areolar choroidal dystrophy. Ophthalmology 116, 771-82. 6. Boon CJF, van de Kar NC, Klevering BJ, Keunen JEE, Cremers FPM, Klaver CC, Hoyng CB, Daha MR, den Hollander AI (2009). The spectrum of phenotypes caused by variants in the CFH gene. Mol Immunol. 46, 1573-94. |
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Research Theme 2:
Perception, Action and Decision-making
Research Group
Sensory Disorders - Retinal Dystrophies
Principal Investigator
Prof. Dr. B.J. Klevering
Group members