Rare diseases · Sign or symptom
Visual impairment
Impaired vision
HP:0000505
What it means
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Rare diseases that can present with this213
Very common80–99%
50- 3-methylglutaconic aciduria type 3
- Absence deformity of leg-cataract syndrome
- Adult-onset foveomacular vitelliform dystrophy
- Amaurosis-hypertrichosis syndrome
- Aniridia-ptosis-intellectual disability-familial obesity syndrome
- Autosomal dominant optic atrophy, classic form
- Autosomal recessive malignant osteopetrosis
- Autosomal recessive palmoplantar keratoderma and congenital alopecia
- Best vitelliform macular dystrophy
- Bradyopsia
- Cartilage-hair hypoplasia
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Cerebrotendinous xanthomatosis
- Choroidal atrophy-alopecia syndrome
- Choroideremia
- Combined oxidative phosphorylation defect type 7
- Corneal dystrophy-perceptive deafness syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- Fetal methylmercury syndrome
- Infantile Refsum disease
- Jalili syndrome
- Krabbe disease
- Lethal ataxia with deafness and optic atrophy
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- MORM syndrome
- Mucolipidosis type III
- Multiple sulfatase deficiency
- Muscle-eye-brain disease
- Nance-Horan syndrome
- Northern epilepsy
- N syndrome
- Ocular albinism with late-onset sensorineural deafness
- Ocular cystinosis
- Osteoporosis-oculocutaneous hypopigmentation syndrome
- Pantothenate kinase-associated neurodegeneration
- Pelizaeus-Merzbacher disease
- Progressive bifocal chorioretinal atrophy
- Progressive cone dystrophy
- Retinal degeneration-nanophthalmos-glaucoma syndrome
- Retinitis pigmentosa
- Schwartz-Jampel syndrome
- Senior-Loken syndrome
- Septo-optic dysplasia spectrum
- Sialidosis type 1
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Stickler syndrome
- Usher syndrome
- X-linked adrenoleukodystrophy
- X-linked corneal dermoid
Common30–79%
29- 2p15p16.1microdeletion syndrome
- Ablepharon macrostomia syndrome
- Acro-renal-ocular syndrome
- Adult Refsum disease
- AGel amyloidosis
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Ascher syndrome
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Autosomal recessive spastic paraplegia type 74
- Aymé-Gripp syndrome
- Bietti crystalline dystrophy
- Brain arteriovenous malformation, nidus type
- Canavan disease
- Cataract-ataxia-deafness syndrome
- Central areolar choroidal dystrophy
- Cerebello-oculo-facio-genital syndrome
- Childhood-onset spasticity with hyperglycinemia
- CINCA syndrome
- Cockayne syndrome type 1
- Coffin-Siris syndrome
- COFS syndrome
- Congenital microcoria
- Congenital rubella syndrome
- Craniotelencephalic dysplasia
- DYRK1A-related intellectual disability syndrome
- FOXG1 syndrome
- Functioning gonadotropic adenoma
- GAPO syndrome
- Giant cell arteritis
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: Loss of eyesight · Poor vision
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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.