Research Topics
Genomes and Genes | Robert WilkeSummaryAffiliation: UNSW Location: Sydney, Australia Summary: Ophthalmology Hereditary Retinal Dystrophies Biomedical Engineering Retinal Imaging Retinal Implants, Bionic Vision, Artificial vision Publications
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Detail Information
Publications
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophyKatharina Agnes Wycisk
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
Am J Hum Genet 79:973-7. 2006..Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy...
Early visual symptom patterns in inherited retinal dystrophiesElena Prokofyeva
Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
Ophthalmologica 226:151-6. 2011..It showed that patterns of initial symptoms in IRD can provide extra clues for early differential diagnosis and inclusion of IRD patients in clinical trials...- Spatial resolution and perception of patterns mediated by a subretinal 16-electrode array in patients blinded by hereditary retinal dystrophiesRobert Wilke
Centre for Ophthalmology, University of Tubingen, Tubingen, Germany
Invest Ophthalmol Vis Sci 52:5995-6003. 2011..This device is part of the Tübingen retina implant, which also employs a light-sensitive, multiphotodiode array (MPDA). The ability to reliably recognize complex spatial percepts was investigated... - [Vision restoration with implants in retinal degenerations]Akos Kusnyerik
Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest
Orv Hetil 152:537-45. 2011..A number of types of retinal implants can be expected to appear in clinical practice a few years after the successful conclusion of clinical trials... - Restoration of useful vision up to letter recognition capabilities using subretinal microphotodiodesHeval Benav
Conf Proc IEEE Eng Med Biol Soc 2010:5919-22. 2010..Finally, we present images illustrating an approximation of how the visual perceptions might have appeared to the subjects, based on a mathematical model and patient reports... - A domain model of a clinical reading center - Design and implementationGunnar Lotz
Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Frondsbergstr 23, 72070, Germany
Conf Proc IEEE Eng Med Biol Soc 2010:4530-3. 2010..Here we present our domain model for a clinical reading center, as well as its actual implementation utilizing the Nuxeo enterprise content management system... - Subretinal electronic chips allow blind patients to read letters and combine them to wordsEberhart Zrenner
Centre for Ophthalmology, University of Tubingen, Schleichstr 12, 72076 Tubingen, Germany
Proc Biol Sci 278:1489-97. 2011..These results demonstrate for the first time that subretinal micro-electrode arrays with 1500 photodiodes can create detailed meaningful visual perception in previously blind individuals... - Structure-function correlation of the human central retinaPeter Charbel Issa
Department of Ophthalmology, University of Bonn, Bonn, Germany
PLoS ONE 5:e12864. 2010..The impact of retinal pathology detected by high-resolution imaging on vision remains largely unexplored. Therefore, the aim of the study was to achieve high-resolution structure-function correlation of the human macula in vivo... - Basic quantitative assessment of visual performance in patients with very low visionMichael Bach
Sektion Funktionelle Sehforschung, University Eye Hospital Freiburg, Freiburg, Germany
Invest Ophthalmol Vis Sci 51:1255-60. 2010..This report presents a method of comparing their efficacy at genuinely improving visual function, starting at no light perception (NLP)... - An epidemiological approach for the estimation of disease onset in Central Europe in central and peripheral monogenic retinal dystrophiesElena Prokofyeva
Bioengineering Medical Laboratory, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
Graefes Arch Clin Exp Ophthalmol 247:885-94. 2009..To study clinical patterns of disease onset in monogenic retinal dystrophies (MRD), using an epidemiological approach... - CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosaAlmudena Avila-Fernandez
Department of Genetics, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
Invest Ophthalmol Vis Sci 49:2709-13. 2008..It encodes a ceramide kinase that is assumed to be involved in sphingolipid-mediated apoptosis in the retina. This is a report of the phenotypes and genotypes of persons carrying disease-causing mutations in CERKL... - Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degenerationVeronique B D Kitiratschky
Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tübingen, Tubingen, Germany
Invest Ophthalmol Vis Sci 49:5015-23. 2008..The present study was a comprehensive screening of the GUCY2D gene in 27 adCD and adCRD unrelated families of these rare disorders... - Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosaRosa Riveiro-Alvarez
Genetics Department, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
Mol Vis 14:262-7. 2008..It has been associated with mutations in different genes, including CRB1. The aim of this study was to determine the genetic causes for two different retinal dystrophies, STGD and early-onset arRP, both segregating in one Spanish family... 
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarrayElena Vallespin
Department of Genetics, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
Invest Ophthalmol Vis Sci 48:5653-61. 2007....- Two truncating USH3A mutations, including one novel, in a German family with Usher syndromeInga Ebermann
Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
Mol Vis 13:1539-47. 2007..To identify the genetic defect in a German family with Usher syndrome (USH) and linkage to the USH3A locus... - The phenotype of early-onset retinal degeneration in persons with RDH12 mutationsAndreas Schuster
Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Schleichstrasse 12 16, D 72076 Tubingen, Germany
Invest Ophthalmol Vis Sci 48:1824-31. 2007..To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells... - Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ringEva Lenassi
Eye Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia
Invest Ophthalmol Vis Sci 53:47-52. 2012....