Ocular albinism

MONDO:0017304

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.

Also known as: ocular albinism, ocular albinism (disease), XLOA

2 clinical trials for this condition and its sub-types, 1 tagged with Ocular albinism itself.

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↑ Disorder of visual system (3476) ↑ Disorder of melanin metabolism (15)

Sub-types of Ocular albinism

Autosomal recessive ocular albinism 0 trials · 1 incl. sub-types
1 sub-type
- Oculocutaneous albinism type 1A 1 trial Sub-types →
X-linked recessive ocular albinism 0 trials
Ocular albinism with late-onset sensorineural deafness 0 trials

Most studied deeper sub-types

Oculocutaneous albinism type 1B (0)

Including sub-types (2) Tagged with Ocular albinism (1)

Trials to join now! 1

Massive eye gene bank aims to unlock secrets of rare blindness

Knowledge-focused Recruiting now

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:05 UTC

Ocular albinism

Where it sits in the disease tree

Most studied deeper sub-types

Massive eye gene bank aims to unlock secrets of rare blindness