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  • diseases
  • Specific chapters deal with the molecular genetics of gene therapies, clinical genetic studies, molecular and cellular mechanisms of the development of the disease, functional genomics of retinal diseases, animal models of retinal dystrophies, and finally with studies on gene therapeutic approaches to correcting the disorder. (wiley.com)
  • 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)
  • Has any disease (other than study allowed diseases) or condition that affects retinal function of the study eye (e.g., central retinal artery/vein occlusion, end-stage diabetic retinopathy, current or prior retinal detachment, infectious or inflammatory retinal disease, etc. (clinicaltrials.gov)
  • Diagnosis
  • Considering the 185 unsolved families, no molecular diagnosis was apparent despite whole exome sequencing in 16, NGS retinal panel screening in 2 and APEX in the remaining 167. (arvojournals.org)
  • Patients with a precise diagnosis of rod-cone dystrophy or Bietti Crystalline Corneoretinal Dystrophy were screened for genetic defects by homozygosity mapping, linkage analysis and/or direct sequencing. (arvojournals.org)
  • degenerations
  • European patients will now also be able to have the treatment," Bart P. Leroy, MD, PhD, ophthalmologist and clinical geneticist, professor and head of ophthalmology at the University Hospital of Ghent, Belgium, and director of the Retinal Degenerations Clinic at Children's Hospital of Philadelphia, told Healio.com/OSN. (healio.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)
  • whole exome
  • 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
  • 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)
  • molecular
  • 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)