Rare diseases · Sign or symptom
Optic atrophy
HP:0000648
What it means
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischemic optic neuropathy or a compressive lesion.
Rare diseases that can present with this268
Very common80–99%
45- 2p15p16.1microdeletion syndrome
- Amaurosis-hypertrichosis syndrome
- Amish lethal microcephaly
- Autosomal dominant optic atrophy and cataract
- Autosomal dominant optic atrophy, classic form
- Autosomal dominant optic atrophy plus syndrome
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- Autosomal recessive spastic paraplegia type 57
- CAMOS syndrome
- Canavan disease
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Cerebellar ataxia-hypogonadism syndrome
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Combined oxidative phosphorylation defect type 7
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- Cutaneous mastocytosis-deafness-microtia syndrome
- Distal deletion 17q syndrome
- Dysosteosclerosis
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Foveal hypoplasia-presenile cataract syndrome
- Infantile-onset spinocerebellar ataxia
- Lethal ataxia with deafness and optic atrophy
- Micro syndrome
- Multiple mitochondrial dysfunctions syndrome type 4
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- Muscle-eye-brain disease
- Neonatal adrenoleukodystrophy
- Oculocerebrofacial syndrome, Kaufman type
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- PEHO syndrome
- Pelizaeus-Merzbacher disease
- Retinal degeneration-nanophthalmos-glaucoma syndrome
- Retinitis pigmentosa
- Severe oculo-renal-cerebellar syndrome
- Severe X-linked intellectual disability, Gustavson type
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- SRD5A3-CDG
- Walker-Warburg syndrome
- Wolfram-like syndrome
- Wolfram syndrome
- Xeroderma pigmentosum
- Xeroderma pigmentosum-Cockayne syndrome complex
- X-linked Charcot-Marie-Tooth disease type 5
- X-linked spinocerebellar ataxia type 3
Common30–79%
35- Albers-Schönberg osteopetrosis
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- Bohring-Opitz syndrome
- CACH syndrome
- CEDNIK syndrome
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- CHARGE syndrome
- Childhood-onset spasticity with hyperglycinemia
- Cobblestone lissencephaly without muscular or ocular involvement
- Cockayne syndrome type 1
- Craniotelencephalic dysplasia
- Developmental and speech delay due to SOX5 deficiency
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset X-linked optic atrophy
- Fabry disease
- Familial infantile bilateral striatal necrosis
- Fatty acid hydroxylase-associated neurodegeneration
- Filippi syndrome
- Friedreich ataxia
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- Jalili syndrome
- Juvenile Paget disease
- Koolen-De Vries syndrome
- Leber hereditary optic neuropathy
- Leigh syndrome
- Meckel syndrome
- MEPAN syndrome
- MERRF
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 2 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Optic nerve atrophy · Optic-nerve degeneration
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.