Paveldimas regos nervo atrofija
Paveldimas regos nervo skaidulų netekimas, dažniausiai autosominė dominuojanti regos nervo atrofija, kurią sukelia OPA1 pakitimai, įskaitant retesnes formas, kurias sukelia OPA3, DNM1L, SSBP1 ir kiti genai.
Taip pat žinoma kaip
hereditary optic Atrophies; atrophy, hereditary optic
Apima 26 susijusius poporūšius ↓Slėpti poporūšius ↑
- ACO2-related optic atrophy with or without extraocular features
- Al Gazali Khidr Prem Chandran syndrome
- autosomal dominant optic atrophy and peripheral neuropathy
- autosomal dominant optic atrophy plus syndrome
- autosomal dominant optic atrophy, classic form
- autosomal recessive optic atrophy, OPA7 type
- cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Leber hereditary optic neuropathy
- Leber optic atrophy and dystonia
- optic atrophy 10 with or without ataxia, intellectual disability, and seizures
- optic atrophy 11
- optic atrophy 12
- optic atrophy 13 with retinal and foveal abnormalities
- optic atrophy 14
- optic atrophy 15
- optic atrophy 16
- optic atrophy 2
- optic atrophy 3
- optic atrophy 4
- optic atrophy 5
- optic atrophy 6
- optic atrophy 8
- optic atrophy 9
- optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
- osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
