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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ocular albinism type 1


Other Names for this Disease
  • Nettleship-Falls type ocular albinism
  • OA1
  • Ocular albinism, Nettleship-Falls type
  • X-linked ocular albinism
  • X-linked recessive ocular albinism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might ocular albinism type 1 be treated?

Hypersensitivity to light, often called "photoaversion," "photophobia," or "photodysphoria," is the most incapacitating symptom in some people with ocular albinism type 1 (OA1). This symptom may be relieved by sunglasses, transition lenses, or special filter glasses, although many prefer not to wear them because of the reduction in vision from the dark lenses when indoors.

Refractive errors should be detected and treated as early as possible with appropriate spectacle correction. Abnormal head posture may be treated with prismatic spectacle correction.

Strabismus surgery is usually not necessary but may be performed for cosmetic purposes, particularly if the strabismus or the face turn is marked or fixed.

Appropriate education for sun-protective lotions and clothing (preferably by an informed dermatologic consultant) is recommended to moderate the lifelong effects of sun exposure.

Children with ocular albinism who are younger than 16 years of age should have an annual ophthalmologic exam (including assessment of refractive error and the need for filter glasses), as well as psychosocial and educational support. Affected adults should have ophthalmologic exams when needed, typically every two to three years.[1]
Last updated: 8/10/2015

References
  1. Richard Alan Lewis. Ocular Albinism, X-Linked. GeneReviews. April 5, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1343/.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Screening Study for the Evaluation and Diagnosis of Potential Research Participants which may be of interest to you. To find this trial, click on the link above.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • Nettleship-Falls type ocular albinism
  • OA1
  • Ocular albinism, Nettleship-Falls type
  • X-linked ocular albinism
  • X-linked recessive ocular albinism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.