X-linked Ocular Albinism

Stephen H Tsang; Tarun Sharma

doi:10.1007/978-3-319-95046-4_11

X-linked Ocular Albinism

Adv Exp Med Biol. 2018:1085:49-52. doi: 10.1007/978-3-319-95046-4_11.

Authors

Stephen H Tsang^{1

2}, Tarun Sharma³

Affiliations

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 University, New York, NY, USA.
² Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.
³ Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. ts3118@cumc.columbia.edu.

PMID: 30578484
DOI: 10.1007/978-3-319-95046-4_11

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.

MeSH terms

Albinism, Ocular / physiopathology*
Depth Perception
Genetic Diseases, X-Linked / physiopathology*
Humans
Male
Nystagmus, Pathologic
Photophobia
Strabismus