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Retina September 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

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Dyon Valkenburg; Caroline van Cauwenbergh; Birgit Lorenz; Mies M. van Genderen; Mette Bertelsen; Jan-Willem R. Pott; Frauke Coppieters; Julie de Zaeytijd; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; Hester Y. Kroes; Mary J. van Schooneveld; Markus Preising; Carel B. Hoyng; Bart P. Leroy; L. Ingeborgh van den Born; Rob W. J. Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4384-4391. doi: 10.1167/iovs.18-24817

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Analysis of the entire ABCA4 genomic locus in Stargardt disease patients in search for missing mutations

Jana Zernant; Carmen Ayuso; Francesca Simonelli; Mette Bertelsen; Thomas Rosenberg; Michael Gorin; Bo Yuan; Peter L Nagy; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3253. doi:

Genetics April 2014

Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4 -Associated Retinopathies

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Mette Bertelsen; Jana Zernant; Michael Larsen; Morten Duno; Rando Allikmets; Thomas Rosenberg
TAGS: phenotype, mutation, atrophy, electroretinography, genes, retinal diseases
Invest. Ophthalmol. Vis. Sci.. 2014; 55(4):2766-2776. doi: 10.1167/iovs.13-13391

ARVO Annual Meeting Abstract March 2012

Outcome of cataract surgery in patients with Retinitis Pigmentosa

Line Kessel; Mette Bertelsen; Thomas Rosenberg; Gøril Boberg-Ans; Michael Larsen

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2286. doi:

ARVO Annual Meeting Abstract March 2012

Prevalence and genetic characteristics of Generalized Retinal Dystrophy in Danish children

Mette Bertelsen; Hanne Jensen; Michael Larsen; Thomas Rosenberg

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4569. doi:

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