What's New

Last Posted: Sep 04, 2019

• A nation-wide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
  Sharon Dror et al. Human mutation 2019 Aug
• Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.
  Holtan Josephine Prener et al. Acta ophthalmologica 2019 Aug
• Genetic Screening of the Usher Syndrome in Cuba.
  Santana Elayne E et al. Frontiers in genetics 2019 10501
• Genetic testing in patients with retinitis pigmentosa: features of unsolved cases.
  Birtel Johannes et al. Clinical & experimental ophthalmology 2019 Apr
• The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
  Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
• The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy.
  Nanda A et al. American journal of ophthalmology 2019 Feb
• Genetics of Usher Syndrome: New Insights From a Meta-analysis.
  Jouret Guillaume et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 Jan 40(1) 121-129
• Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
  Lee Jennifer et al. Ophthalmic genetics 2018 Nov 1-6
• Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
  Ivanova Marianna E et al. Ophthalmic genetics 2018 Oct 1-8
• Relative frequency of inherited retinal dystrophies in Brazil.
  Motta Fabiana Louise et al. Scientific reports 2018 Oct 8(1) 15939
• Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort.
  Chiang John P W et al. Investigative ophthalmology & visual science 2018 Sep 59(11) 4434-4440
• Researchers find potential new gene therapy for blinding disease
  NIH News, August 20, 2018
• [Genetic diagnostics of retinal dystrophies : Breakthrough with new methods of DNA sequencing].
  Bolz H J et al. Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2018 Jul
• CLINGEN Actionability Report for Biallelic RPE65 Mutation-Associated Retinal Dystrophy-RPE65
  ClinGen Actionability Working Group
• [Application of next generation sequencing in congenital sensorineural deafness].
  Xu B et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 Jun 32(11) 811-815