Rare diseases · Sign or symptom
Visual loss
Loss of vision
HP:0000572
What it means
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Rare diseases that can present with this91
Very common80–99%
18- Alström syndrome
- Autosomal dominant drusen
- Birdshot chorioretinopathy
- Blindness-scoliosis-arachnodactyly syndrome
- Isolated aniridia
- Lattice corneal dystrophy type I
- Multiple mitochondrial dysfunctions syndrome type 4
- Nance-Horan syndrome
- Neovascular glaucoma
- Neuromyelitis optica spectrum disorder
- PEHO syndrome
- Phacoanaphylactic uveitis
- Sorsby fundus dystrophy
- Spondylo-ocular syndrome
- Usher syndrome type 1
- Usher syndrome type 2
- Usher syndrome type 3
- X-linked adrenoleukodystrophy
Common30–79%
24- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Brittle cornea syndrome
- Cancer-associated retinopathy
- Central areolar choroidal dystrophy
- Fuchs endothelial corneal dystrophy
- GATA2 deficiency spectrum
- Glioblastoma
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- Isolated optic neuritis
- KID syndrome
- Knobloch syndrome
- Late-infantile/juvenile Krabbe disease
- Late-onset retinal degeneration
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- MELAS
- Mycophenolate mofetil embryopathy
- Optic pathway glioma
- Posterior column ataxia-retinitis pigmentosa syndrome
- Spinocerebellar ataxia type 7
- Sporadic adult-onset ataxia of unknown etiology
- SRD5A3-CDG
- Susac syndrome
- X-linked spastic paraplegia type 16
Sometimes5–29%
38- Acute disseminated encephalomyelitis
- Adult Krabbe disease
- Ahmad syndrome
- Amoebiasis due to free-living amoebae
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Blau syndrome
- C3 glomerulopathy
and 30 more in this range
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Vision loss
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.