X-linked Ocular Albinism

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)


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.


X-linked Albinism Oculocutaneous Ocular 

Suggested 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.CrossRefGoogle Scholar
  2. Rosenberg T, Schwartz M. X-linked ocular albinism: prevalence and mutations—a national study. Eur J Hum Genet. 1998;6:570–7.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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