Ulrich Kellner

Publications (172) View all

• Article: [Intravitreal Application of Drugs 2013.]

  Ulrich Kellner, Simone Kellner
  Klinische Monatsblätter für Augenheilkunde 01/2013; · 0.51 Impact Factor
• Source

  Available from: Ditta Zobor

  Dataset: KCNV2 Wissinger Zobor

  Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B Hoyng, Hélène Dollfus, John R Heckenlively, [......], Alexandra Sauer, Christiane Wolf, Ditta Zobor, Antje Bernd, Bart P Leroy, Péter Enyedi, Frans P M Cremers, Birgit Lorenz, Eberhart Zrenner, Susanne Kohl
• Source

  Available from: Balazs Varsányi

  Dataset: VB-BW-Humut-20111-KCNV2

  Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B Hoyng, Hélène Dollfus, John R Heckenlively, [......], Alexandra Sauer, Christiane Wolf, Ditta Zobor, Antje Bernd, Bart P Leroy, Péter Enyedi, Frans P M Cremers, Birgit Lorenz, Eberhart Zrenner, Susanne Kohl
• Source

  Available from: Enzo Maria Vingolo

  Article: BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome.

  Alejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, Elfride B W De Baere, Thomy de Ravel, Sandro Banfi, Susanne Kohl, Carmen Ayuso, Dror Sharon, Carel B Hoyng, [......], Enzo M Vingolo, Sabrina Signorini, Eyal Banin, Liliana Mizrahi-Meissonnier, Eberhard Zrenner, Ulrich Kellner, Rob W J Collin, Anneke I den Hollander, Frans P M Cremers, B Jeroen Klevering
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  ABSTRACT: OBJECTIVE To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment. RESULTS In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant. In addition, this variant was detected homozygously in 10 RP patients and 1 control, compound heterozygously in 3 patients, and heterozygously in 5 patients and 6 controls. The 14 patients with 2 BBS1 variants showed the entire clinical spectrum, from nonsyndromic RP to full-blown BBS. In 8 of 14 patients, visual acuity was significantly reduced. In patients with electroretinographic responses, a rod-cone pattern of photoreceptor degeneration was observed. CONCLUSIONS Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS. As exemplified in this study by the identification of a homozygous p.M390R variant in a control individual and in unaffected parents of BBS patients in other studies, cis - or trans -acting modifiers may influence the disease phenotype. CLINICAL RELEVANCE It is important to monitor patients with an early diagnosis of mild BBS phenotypes for possible life-threatening conditions.
  Archives of ophthalmology 11/2012; 130(11):1425-32. · 3.86 Impact Factor
• Article: Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.

  Theodore Leng, Michael F Marmor, Ulrich Kellner, Dorothy A Thompson, Agnes B Renner, William Moore, Jane C Sowden
  [show abstract] [hide abstract]
  ABSTRACT: To describe a distinctive foveal cavitation as seen by spectral-domain optical coherence tomography in certain cone dysfunction syndromes. Observational case series. Patients were evaluated by dilated fundus examination, fundus photography, fundus autofluorescence, full-field electroretinogram, multifocal electroretinogram, spectral-domain optical coherence tomography, color vision testing, fluorescein angiography, Goldmann visual field testing, and molecular genetic analysis. We present eight patients with foveal cavitation in association with presumed cone dysfunction. This was characterized on spectral-domain optical coherence tomography by a gap in the subfoveal outer segment layer without more diffuse retinal thinning. There were 5 patients of age 10 years to 27 years and 3 patients of age 49 years to 52 years, with a 1.5- to 38-year history of bilateral visual loss. A small foveal oval-shaped area of reduced foveal fundus autofluorescence, surrounded by increased fundus autofluorescence, was seen in the younger patients, and a broad circle of increased fundus autofluorescence in the older patients. The multifocal electroretinogram always showed central amplitude reduction, but there were varying degrees of cone dysfunction on full-field electroretinogram. There were mild abnormalities on desaturated color vision testing. The family history was noncontributory in all cases. None of the cases were congenital. ABCA4 gene mutations were identified in three of five patients tested; CNGB3 testing was negative in these patients. Cone dysfunction syndromes typically show retinal thinning on optical coherence tomography imaging, although several case reports have noted focal outer retinal loss. Our case series shows that a distinctive optical coherence tomography finding, foveal cavitation, may be a clue to cone dysfunction syndromes, but is not specific to any one hereditary disorder or age group.
  Retina (Philadelphia, Pa.) 03/2012; 32(7):1411-9. · 2.93 Impact Factor