Rare diseases · Sign or symptom
Abnormality of vision
Abnormality of sight
HP:0000504
What it means
Abnormality of eyesight (visual perception).
Rare diseases that can present with this75
Very common80–99%
19- 1p21.3microdeletion syndrome
- Adult-onset foveomacular vitelliform dystrophy
- Adult Refsum disease
- Alkaptonuria
- Arachnoiditis
- Cardiofaciocutaneous syndrome
- Diprosopus
- Familial pterygium of the conjunctiva
- Foveal hypoplasia-presenile cataract syndrome
- Gorlin-Chaudhry-Moss syndrome
- Hypoplasminogenemia
- Locked-in syndrome
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- Stüve-Wiedemann syndrome
- Waardenburg-Shah syndrome
- Waardenburg syndrome type 1
- X-linked adrenoleukodystrophy
- X-linked retinoschisis
Common30–79%
31- 1p36deletion syndrome
- 6q25.2q25.3microdeletion syndrome
- ALG11-CDG
- Alpers-Huttenlocher syndrome
- Blepharo-cheilo-odontic syndrome
- Central neurocytoma
- Congenital primary aphakia
- EEM syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- Hartnup disease
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Idiopathic panuveitis
- Inherited Creutzfeldt-Jakob disease
- Intellectual disability syndrome due to a DYRK1A point mutation
- Linear nevus sebaceus syndrome
- Mosaic variegated aneuploidy syndrome
- Neurofibromatosis type 1
- Oculocerebral hypopigmentation syndrome, Cross type
- Oculodentodigital dysplasia
- Peters plus syndrome
- Polycythemia vera
- Posterior cortical atrophy
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Spinocerebellar ataxia type 6
- Trisomy 13 syndrome
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- X-linked intellectual disability-hypotonia-movement disorder syndrome
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 issue
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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.