Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2008 May 15;14(5):4.

X-Linked ocular albinism; Nettleship-Falls ocular albinism

Alexandria V Booth  1 , Anthony C Soldano, Jonathan Levine, Miriam Pomeranz
Affiliations
  • PMID: 18627740
Case Reports

X-Linked ocular albinism; Nettleship-Falls ocular albinism

Alexandria V Booth et al. Dermatol Online J. .

Abstract

A 39-year-old man with foveal hypoplasia, nystagmus, and decreased visual acuity was found to have multiple, cutaneous, hypopigmented macules. Macromelanosomes were demonstrated in normal skin on histopathologic examination. The patient's constellation of findings along with a strong X-linked inheritance pattern in family members led to the diagnosis of X-linked ocular albinism, which is an uncommon condition that is characterized by congenital nystagmus, iris translucency, hypopigmentation of the ocular fundus, strabismus, foveal hypoplasia, photophobia, and impaired vision.

PubMed Disclaimer

Publication types