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Results 1 - 7 of 7 for Leber congenital amaurosis 5
  1. Genetics Home Reference: Leber congenital amaurosis From the National Institutes of Health (National Library of Medicine)  
    ... Registry: Leber congenital amaurosis 4 Genetic Testing Registry: Leber congenital amaurosis 5 Genetic Testing Registry: Leber congenital amaurosis 9 National ...
  2. Genetics Home Reference: Senior-Løken syndrome From the National Institutes of Health (National Library of Medicine)  
    ... unclear how they lead specifically to nephronophthisis and Leber congenital amaurosis. Some people with Senior-Løken syndrome do not have identified mutations in one of the five genes known to be associated with the condition. ...
  3. ... National Academy of Sciences. The disease, known as Leber congenital amaurosis (LCA), is caused by mutations in a gene ... WA, et al. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. ...
  4. ... a form of childhood blindness. The condition, called Leber congenital amaurosis, is caused by a single malfunctioning gene. Symptoms ...
  5. If I Had - Retinitis Pigmentosa Video (Insidermedicine)  
    ... RP. There is a form of RP called Leber’s congenital amaurosis (LCA), and basically the child is born blind ...
  6. Facts about the Cornea and Corneal Disease From the National Institutes of Health (National Eye Institute)  
    ... prematurity, and vernal keratoconjunctivitis. Systemic diseases, such as Leber's congenital amaurosis, Ehlers-Danlos syndrome, Down syndrome, and osteogenesis imperfecta. ...
  7. ... Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin ... and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type ...