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Genetics Home Reference, Your Guide to Understanding Genetic Conditions

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Ocular albinism

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Description

Ocular albinism is a genetic condition that primarily affects the eyes . This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina , which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.

Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.

Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor.

The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.

Related Information

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  • Genetic and Rare Diseases Information Center

Frequency

The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less common in females.

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Causes

Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the growth of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a role in normal vision.

Most mutations in the GPR143 gene alter the size or shape of the GPR143 protein. Many of these genetic changes prevent the protein from reaching melanosomes to control their growth. In other cases, the protein reaches melanosomes normally but mutations disrupt the protein’s function. As a result of these changes, melanosomes in skin cells and the retina can grow abnormally large. Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism.

Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. In these cases, the genetic cause of the condition is often unknown.

Learn more about the gene associated with ocular albinism

  • GPR143

Related Information

  • What is a gene?
  • What is a gene mutation and how do mutations occur?
  • How can gene mutations affect health and development?
  • More about Mutations and Health

Inheritance Pattern

Ocular albinism type 1 is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome , one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. Because females have two copies of the X chromosome, women with only one copy of a GPR143 mutation in each cell usually do not experience vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination.

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  • What does it mean if a disorder seems to run in my family?
  • What are the different ways in which a genetic condition can be inherited?
  • More about Inheriting Genetic Conditions

Diagnosis & Management Links

Genetic Testing Information (5 links)

  • What is genetic testing?
  • Genetic Testing Registry: Albinism, ocular, with late-onset sensorineural deafness
  • Genetic Testing Registry: Albinism, ocular, with sensorineural deafness
  • Genetic Testing Registry: Ocular albinism, type I
  • Genetic Testing Registry: Ocular albinism, type II

Research Studies from ClinicalTrials.gov (1 link)

  • ClinicalTrials.gov

Other Diagnosis and Management Resources (2 links)

  • GeneReview: Ocular Albinism, X-Linked
  • MedlinePlus Encyclopedia: Albinism

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Other Names for This Condition

  • albinism, ocular
  • OA
  • XLOA

Related Information

  • How are genetic conditions and genes named?

Additional Information & Resources

Health Information from MedlinePlus (3 links)

  • Encyclopedia: Albinism
  • Health Topic: Eye Diseases
  • Health Topic: Vision Impairment and Blindness

Genetic and Rare Diseases Information Center (2 links)

  • Albinism ocular late onset sensorineural deafness
  • Ocular albinism type 1

Educational Resources (4 links)

  • MalaCards: ocular albinism
  • New York Eye and Ear Infirmary
  • Orphanet: Ocular albinism
  • Orphanet: X-linked recessive ocular albinism

Patient Support and Advocacy Resources (3 links)

  • National Organization for Rare Disorders
  • Resource list from the University of Kansas Medical Center
  • The Vision of Children

Clinical Information from GeneReviews (1 link)

  • Ocular Albinism, X-Linked

Scientific Articles on PubMed (1 link)

  • PubMed

Catalog of Genes and Diseases from OMIM (3 links)

  • ALBINISM, OCULAR, TYPE I
  • ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS
  • ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS

Medical Genetics Database from MedGen (4 links)

  • Albinism, ocular, with late-onset sensorineural deafness
  • Albinism, ocular, with sensorineural deafness
  • Ocular albinism, type I
  • Ocular albinism, type II

Sources for This Page

  • Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M. Mutational analysis of the OA1 gene in ocular albinism. Ophthalmic Genet. 2003 Sep;24(3):167-73.
    Citation on PubMed
  • Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4358-64.
    Citation on PubMed
  • Lewis RA. Ocular Albinism, X-Linked. 2004 Mar 12 [updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1343/
    Citation on PubMed
  • Oetting WS. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Hum Mutat. 2002 Feb;19(2):85-92. Review.
    Citation on PubMed
  • Tak WJ, Kim MN, Hong CK, Ro BI, Song KY, Seo SJ. Ocular albinism with sensorineural deafness. Int J Dermatol. 2004 Apr;43(4):290-2.
    Citation on PubMed

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Reviewed : November 2017

Published : December 4, 2018

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional .

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