Rare diseases · Sign or symptom
Photophobia
Extreme sensitivity of the eyes to light
HP:0000613
What it means
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Note that the term photodysphoria is used to describe extreme photophobia.
Rare diseases that can present with this136
Very common80–99%
29- Achromatopsia
- Amaurosis-hypertrichosis syndrome
- Amoebic keratitis
- Behçet disease
- Bradyopsia
- Cogan syndrome
- Cone rod dystrophy
- Corneodermatoosseous syndrome
- Cystinosis
- Episodic ataxia type 6
- FLOTCH syndrome
- Gelatinous drop-like corneal dystrophy
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Infantile nephropathic cystinosis
- Intellectual disability, Buenos-Aires type
- Jalili syndrome
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Lymphedema-distichiasis syndrome
- Mucolipidosis type IV
- Ocular albinism with late-onset sensorineural deafness
- Ocular cystinosis
- Oculocutaneous albinism type 1
- Oculocutaneous albinism type 1A
- Oculocutaneous albinism type 6
- PCNA-related progressive neurodegenerative photosensitivity syndrome
- Progressive cone dystrophy
- Retinitis pigmentosa
- Vernal keratoconjunctivitis
- X-linked recessive ocular albinism
Common30–79%
48- Acrodermatitis enteropathica
- Alopecia-intellectual disability syndrome
- Alström syndrome
- Amoebiasis due to free-living amoebae
- Atopic keratoconjunctivitis
- Autoimmune polyendocrinopathy type 1
- Bardet-Biedl syndrome
- Bilateral acute depigmentation of the iris
- Birdshot chorioretinopathy
- Blau syndrome
- Cancer-associated retinopathy
- Chédiak-Higashi syndrome
- Chronic graft versus host disease
- Classic progressive supranuclear palsy syndrome
- Congenital glaucoma
- Congenital microcoria
- EEC syndrome
- Epithelial recurrent erosion dystrophy
- Hartnup disease
- Hereditary mucoepithelial dysplasia
- Hermansky-Pudlak syndrome
- Invasive meningococcal disease
- Isolated congenital alacrima
- Juvenile nephropathic cystinosis
- KID syndrome
- Kleine-Levin syndrome
- Lattice corneal dystrophy type I
- Leber congenital amaurosis
- Leukonychia totalis
- Limbal stem cell deficiency
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- Neovascular glaucoma
- Oculocutaneous albinism type 1B
- Oculocutaneous albinism type 2
- Oculocutaneous albinism type 4
- Oligocone trichromacy
- Paroxysmal hemicrania
- Paternal uniparental disomy of chromosome 1 syndrome
- Phacoanaphylactic uveitis
- Posterior cortical atrophy
- Q fever
- Retinitis punctata albescens
- Scrub typhus
- Sjögren-Larsson syndrome
- Thiel-Behnke corneal dystrophy
- Tyrosinemia type 2
- Visual snow syndrome
- Xeroderma pigmentosum variant
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 1 disease 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: Light hypersensitivity · Photodysphoria
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.