Rare diseases · Sign or symptom

Ocular albinism

Absent pigmentation in the eye

HP:0001107

What it means

An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.

Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia.

Rare diseases that can present with this12

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: Albinism, Ocular

Ocular albinism

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This 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.