• genetic
  • 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)
  • Eligibility criteria included confirmatory genetic testing for biallelic RPE65 mutations, ≥2 office/clinic visits, and no other retinal pathology. (arvojournals.org)
  • August 25, 1933 - August 28, 2012) was an Israeli ophthalmologist specializing in the diagnosis and treatment of retinal and genetic eye diseases. (wikipedia.org)
  • RP is seen clinically in association with several other rare genetic disorders (including muscular dystrophy and chronic granulomatous disease) as part of McLeod syndrome. (wikipedia.org)
  • 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)
  • 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)
  • CRB1
  • In total, 71 different sequence variants have been identified on 184 CRB1 alleles of patients with retinal dystrophies, including amino acid substitutions, frameshift, nonsense, and splice site mutations, in-frame deletions, and large insertions. (ru.nl)
  • involvement
  • Three genes mapping within the linked interval (RDS, GUCA1A, and GUCA1B) were considered excellent candidates because of their involvement in distinct forms of retinal dystrophies. (univaq.it)
  • 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)
  • 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)