Rare diseases · Sign or symptom
Iris hypopigmentation
Light eye color
HP:0007730
What it means
An abnormal reduction in the amount of pigmentation of the iris.
Rare diseases that can present with this39
Very common80–99%
13- Congenital microcoria
- Griscelli syndrome type 1
- Hermansky-Pudlak syndrome
- Microcephaly-albinism-digital anomalies syndrome
- Oculocerebral hypopigmentation syndrome, Preus type
- Oculocutaneous albinism type 1
- Oculocutaneous albinism type 1A
- Oculocutaneous albinism type 1B
- Spondylo-ocular syndrome
- Usher syndrome type 2
- Usher syndrome type 3
- X-linked intellectual disability-retinitis pigmentosa syndrome
- X-linked recessive ocular albinism
Common30–79%
15- Adult-onset foveomacular vitelliform dystrophy
- Angelman syndrome
- Angelman syndrome due to a point mutation
- Angelman syndrome due to imprinting defect in 15q11-q13
- Angelman syndrome due to maternal 15q11q13 deletion
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Chédiak-Higashi syndrome
- Deaf blind hypopigmentation syndrome, Yemenite type
- Free sialic acid storage disease
- Oculocutaneous albinism type 2
- Oculocutaneous albinism type 3
- Oculocutaneous albinism type 4
- 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
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: Light eye colour · Reduced iris pigmentation
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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.