• diseases
  • Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases," Orphanet Journal of Rare Diseases , vol. 7, no. 1, article 8, 2012. (hindawi.com)
  • gene therapy
  • Together with a more detailed understanding of disease processes, this knowledge is stimulating new approaches to therapeutic strategies involving gene therapy, growth factors and retinal cell transplantation. (wiley.com)
  • This important new book covers all aspects of retinal dystrophies from the molecular and developmental biology of these disorders to possible therapeutic approaches, with special reference to gene therapy. (wiley.com)
  • Ophthalmology
  • High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy," Investigative Ophthalmology and Visual Science , vol. 52, no. 12, pp. 9053-9060, 2011. (hindawi.com)
  • dysfunction
  • As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive errors, a study investigating the affected cell type, causal gene, and refractive error in IRDs may provide insight herein. (eur.nl)
  • molecular
  • Molecular investigations included candidate gene Sanger sequencing, arrayed primer extension (APEX), next generation sequencing (NGS) with a 105 retinal gene panel, and whole exome-analysis. (arvojournals.org)
  • disease
  • Conclusion: Our observations of the PITPNM3 p.Q626H mutation carriers confirm that CORD5 is a disease not to mix with other retinal degenerations mapped to 17p13. (diva-portal.org)
  • visual
  • All-trans-retinol is not photoactive and therefore must be reconverted to 11-cis-retinal before it can recombine with opsin to form an active visual pigment. (wikipedia.org)
  • The other enzymes of the visual cycle complete the reactions necessary to oxidize and esterify all-trans-retinol to a retinyl ester (RPE65's substrate) and to oxidize 11-cis-retinol to 11-cis-retinal (the required photoactive visual pigment component). (wikipedia.org)