Optic Atrophy, Hereditary, Leber

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  Subject Areas on Research

  • A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. 
  • Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. 
  • Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. 
  • Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. 
  • Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. 
  • Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged Man.