Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

Eitemau Tebyg

• Transient pupillary light reflex in CEP290- or NPHP5- associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function
  gan: Krishnan, Arun K., et al.
  Cyhoeddwyd: (2020)
• Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
  gan: den Hollander, Anneke I., et al.
  Cyhoeddwyd: (2006)
• Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy
  gan: Boye, Shannon E., et al.
  Cyhoeddwyd: (2014)
• Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
  gan: Cideciyan, Artur V., et al.
  Cyhoeddwyd: (2011)
• Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function
  gan: Jacobson, Samuel G., et al.
  Cyhoeddwyd: (2021)