Ocular albinism
MONDO:0017304Albinism 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.
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Broader categories
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Gene therapy injection aims to restore pigment in Children's eyes
Disease control Recruiting nowThis early-phase trial tests a single injection of JWK010 gene therapy in 18 children aged 5 to 12 with oculocutaneous albinism type 1 (OCA1). OCA1 is caused by a gene change that prevents the body from making pigment, leading to vision problems and light sensitivity. The therapy…
Early phase 1 • Sponsor: West China Hospital • Aim: Disease control
Last updated Jun 27, 2026 08:10 UTC
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Massive eye gene bank aims to unlock secrets of rare blindness
Knowledge-focused Recruiting nowThis 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