Kalıtsal Optik Atrofi
Optik sinir liflerinin kalıtsal olarak kaybıdır; en sık görülen tipi OPA1'deki değişikliklerden kaynaklanan otozomal dominant optik atrofidir. Ayrıca OPA3, DNM1L, SSBP1 ve diğer genlerden kaynaklanan daha nadir tipleri de bu gruba dahildir.
Diğer adları
hereditary optic Atrophies; atrophy, hereditary optic
26 ilgili alt tip içerir ↓Alt tipleri gizle ↑
- 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
