Rare diseases · Sign or symptom
Abnormality of the eye
Abnormal eye
HP:0000478
What it means
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this99
Very common80–99%
21- Adult-onset foveomacular vitelliform dystrophy
- Adult Refsum disease
- AGel amyloidosis
- Agnathia-holoprosencephaly-situs inversus syndrome
- Alobar holoprosencephaly
- 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
- Midline interhemispheric variant of holoprosencephaly
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- Semilobar holoprosencephaly
- Stüve-Wiedemann syndrome
- Von Hippel-Lindau disease
- Waardenburg-Shah syndrome
- Waardenburg syndrome type 1
Common30–79%
40- 20q11.2microdeletion syndrome
- 6q25.2q25.3microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- Achondrogenesis type 2
- ALG1-CDG
- ALG3-CDG
- ALG8-CDG
- Alpers-Huttenlocher syndrome
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Björnstad syndrome
- Blepharo-cheilo-odontic syndrome
- Cerebello-oculo-facio-genital syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- EEM syndrome
- FOXP1 Syndrome
- Full NF2-related schwannomatosis
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Houge-Janssens syndrome type 1
- Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
- Isolated succinate-CoQ reductase deficiency
- Lacrimoauriculodentodigital syndrome
- Linear nevus sebaceus syndrome
- Lobar holoprosencephaly
- Methylcobalamin deficiency type cblE
- Mosaic variegated aneuploidy syndrome
- Neurofibromatosis type 1
- Oculocerebral hypopigmentation syndrome, Cross type
- Oculodentodigital dysplasia
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- RERE-related neurodevelopmental syndrome
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Schaaf-Yang syndrome
- SLC35A2-CDG
- Trisomy 10p syndrome
- Trisomy 13 syndrome
- Waardenburg syndrome
- X-linked Alport syndrome-diffuse leiomyomatosis
- X-linked centronuclear myopathy
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Sometimes5–29%
19- 6q16microdeletion syndrome
- Acrorenal syndrome
- ALG12-CDG
- Biotinidase deficiency
- Burn-McKeown syndrome
- CEDNIK syndrome
- CHARGE syndrome
- Chronic mucocutaneous candidiasis
and 11 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, and Orphanet separately records 7 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: Eye disease
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.