• Publications
  • Influence
Subretinal electronic chips allow blind patients to read letters and combine them to words
TLDR
A light-sensitive, externally powered microchip was surgically implanted subretinally near the macular region of volunteers blind from hereditary retinal dystrophy. Expand
  • 683
  • 33
  • PDF
Mutations in RPE65 cause Leber's congenital amaurosis
  • 571
  • 29
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 theExpand
  • 441
  • 26
Standard for clinical electroretinography (1999 update)
(for the International Society for Clinical Electrophysiology of Vision) (for the International Society for Clinical Electrophysiology of Vision)
  • 321
  • 17
CNGA3 mutations in hereditary cone photoreceptor disorders.
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
  • 256
  • 13
  • PDF
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial, variabilityExpand
  • 171
  • 13
  • PDF
Subretinal Visual Implant Alpha IMS – Clinical trial interim report
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
  • 227
  • 12
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
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 theExpand
  • 132
  • 11
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
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 sequenceExpand
  • 214
  • 10
  • PDF
Epidemiology of Major Eye Diseases Leading to Blindness in Europe: A Literature Review
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 theExpand
  • 141
  • 10