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- Publications
- Influence
Subretinal electronic chips allow blind patients to read letters and combine them to words
- E. Zrenner, K. Bartz-Schmidt, +16 authors R. Wilke
- Computer Science, Medicine
- Proceedings of the Royal Society B: Biological…
- 3 November 2010
TLDR
Mutations in RPE65 cause Leber's congenital amaurosis
- F. Marlhens, C. Bareil, +9 authors C. Hamel
- Biology, Medicine
- Nature Genetics
- 1 October 1997
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)
X-linked retinitis pigmentosa (xIRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xIRR RP3, has been localised to the… Expand
Standard for clinical electroretinography (1999 update)
- M. Marmor, E. Zrenner
- Medicine
- Documenta Ophthalmologica
- 1 November 1998
(for the International Society for Clinical Electrophysiology of Vision) (for the International Society for Clinical Electrophysiology of Vision)
CNGA3 mutations in hereditary cone photoreceptor disorders.
- B. Wissinger, D. Gamer, +26 authors S. Kohl
- Biology, Medicine
- American journal of human genetics
- 1 October 2001
We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11.… Expand
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
- I. Ebermann, J. Phillips, +16 authors H. Bolz
- Medicine, Biology
- The Journal of clinical investigation
- 1 June 2010
Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial, variability… Expand
Subretinal Visual Implant Alpha IMS – Clinical trial interim report
- K. Štingl, K. Bartz-Schmidt, +19 authors E. Zrenner
- Medicine
- Vision Research
- 1 June 2015
A subretinal visual implant (Alpha IMS, Retina Implant AG, Reutlingen, Germany) was implanted in 29 blind participants with outer retinal degeneration in an international multicenter clinical trial.… Expand
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
- K. A. Wycisk, C. Zeitz, +8 authors W. Berger
- Biology, Medicine
- American journal of human genetics
- 1 November 2006
Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the… Expand
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
- D. Thompson, P. Gyürüs, +9 authors A. Gal
- Biology, Medicine
- Investigative ophthalmology & visual science
- 1 December 2000
PURPOSE
To characterize the spectrum of RPE65 mutations present in 453 patients with retinal dystrophy with an interest in understanding the range of functional deficits attributable to sequence… Expand
Epidemiology of Major Eye Diseases Leading to Blindness in Europe: A Literature Review
- E. Prokofyeva, E. Zrenner
- Medicine
- Ophthalmic Research
- 2011
The objective of this work was to study the epidemiology of major eye diseases leading to blindness in Europe through a systematic literature review. The literature search was performed using the… Expand