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Review
. 2025:1467:57-60.
doi: 10.1007/978-3-031-72230-1_11.

X-Linked Ocular Albinism

Benjamin Kuang-Chien Chiang  1 , Stephen H Tsang  2 , Tarun Sharma  3
Affiliations
Review

X-Linked Ocular Albinism

Benjamin Kuang-Chien Chiang et al. Adv Exp Med Biol. 2025.

Abstract

The prevalence of X-linked ocular albinism (XLOA) is about 1 in 60,000 males. It affects only the eyes; the color of the skin and hairs are normal. Patients usually present with reduced vision, photophobia, nystagmus, and strabismus. Many patients have problem in perceiving depth (stereoscopic vision). The visual loss is permanent, but XLOA is a nonprogressive disorder and visual acuity remains stable throughout life.

Keywords: Albinism; Ocular; Oculocutaneous; X-linked.

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References

Further Reading

    1. Charles SJ, Green JS, Grant JW, Yates JR, Moore AT. Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol. 1993;77:222–7.
    1. Rosenberg T, Schwartz M. X-linked ocular albinism: prevalence and mutations—a national study. Eur J Hum Genet 1998;6:570–7.

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