Leber hereditary optic neuropathy

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ΕΤΥΜΟΛΟΓΙΑ

First described in 1871,by the German ophthalmologist Theodor Leber
Leber hereditary optic neuropathy(LHON, Leber optic atropy) is a mitochondrial disease characterised by the phenotype of mid-life acute or subacute central vision loss (central scotoma progressing to blindness) and mitochondrial inheritance through the female line. At least eighteen allelic variants, exist but 90% of cases are due to 3 mutations at basepairs 11778, 3460, and 14484. The last 14484 mutation has a good visual prognosis compared to the others.

The mutations are of:

  1. MTND6*LDYT14459A (516006.0002)
  2. MTND4*LHON11778A (516003.0001)
    • Common cause
  3. MTND1*LHON3460A (516000.0001)
    • Common cause
  4. MTND6*LHON14484C (516006.0001), dbSNP:rs199476104, VAR_004763
  5. MTCYB*LHON15257A (516020.0001)
  6. MTCO3*LHON9438A (516050.0001)
  7. MTCO3*LHON9804A (516050.0002 )
  8. MTND5*LHON13730A (516005.0002)
  9. MTND1*LHON4160C (516000.0002)
  10. MTND2*LHON5244A (516001.0002)
  11. MTCOI*LHON7444A (516030.0001)
  12. MTND1*LHON3394C (516000.0004)
  13. MTND5*LHON13708A (516005.0001)
  14. MTCYB*LHON15812A (516020.0002)
  15. MTND2*LHON4917G (516001.0001)
  16. MTND1*LHON4216C (516000.0003)
  17. MTND1*LHON4136G (516000.0002)
  18. MTATP6*LHON9101C (516060.0003)
  19. MTND4L*LHON10663C (516004.0002)