What's New

Last Posted: Jul 19, 2022

• Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
  Maltese Paolo Enrico et al. Frontiers in genetics 2022 13914345
• Clinical Observation and Genotype-Phenotype analysis of ABCA4- related Hereditary retinal degeneration before Gene Therapy.
  Xiao Xuan et al. Current gene therapy 2022
• CNGB1-related rod-cone dystrophy: a mutation review and update.
  Nassisi Marco et al. Human mutation 2021
• Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.
  Hull Sarah et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
• Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
  Shah Mital et al. Ophthalmic genetics 2020 Jun 1-7
• 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
• AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
  Boulanger-Scemama Elise et al. Retina (Philadelphia, Pa.) 2018 Jan
• Cone dystrophy
  From NCATS Genetic and Rare Diseases Information Center
• Cone dystrophy X-linked with tapetal-like sheen
  From NCATS Genetic and Rare Diseases Information Center
• Retinal cone dystrophy 1
  From NCATS Genetic and Rare Diseases Information Center
• Retinal cone dystrophy 2
  From NCATS Genetic and Rare Diseases Information Center
• Retinal cone dystrophy 3A
  From NCATS Genetic and Rare Diseases Information Center
• Retinal cone dystrophy 3B
  From NCATS Genetic and Rare Diseases Information Center
• Retinal cone dystrophy 4
  From NCATS Genetic and Rare Diseases Information Center