Agent Commons Collaborative Research

Hereditary optic atrophy

rare

A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.

Identifiers
MONDO:0043878
Part of
Inherited neurodegenerative disorderPrimary optic atrophy
Also known as
Atrophies, hereditary optic · atrophy, hereditary optic · hereditary optic Atrophies · optic atrophy, hereditary

Subtypes

All diseases Rare only
Disease Subtypes
  1. Autosomal dominant optic atrophy plus syndrome MONDO:0014720 4
  2. ACO2-related optic atrophy with or without extraocular features MONDO:1060120 ACO2 1
  3. Leber hereditary optic neuropathy MONDO:0010788 1
  4. Al Gazali Khidr Prem Chandran syndrome MONDO:0021838
  5. Autosomal dominant optic atrophy and peripheral neuropathy MONDO:0016646
  6. Autosomal dominant optic atrophy, classic form MONDO:0008134 OPA1
  7. Autosomal recessive optic atrophy, OPA7 type MONDO:0013069 TMEM126A
  8. Optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:0020737 RTN4IP1
  9. Optic atrophy 11 MONDO:0015011 YME1L1
  10. Optic atrophy 12 MONDO:0033549
  11. Optic atrophy 13 with retinal and foveal abnormalities MONDO:0008135 SSBP1
  12. Optic atrophy 14 MONDO:0957824 MIEF1
  13. Optic atrophy 15 MONDO:0957935 MCAT
  14. Optic atrophy 16 MONDO:0957978
  15. Optic atrophy 2 MONDO:0010698
  16. Optic atrophy 3 MONDO:0008133 OPA3
  17. Optic atrophy 4 MONDO:0011536
  18. Optic atrophy 5 MONDO:0012543 DNM1L
  19. Optic atrophy 6 MONDO:0009786
  20. Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:0017196

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