Ocular albinism type 1

Title

Other Names:

Nettleship-Falls type ocular albinism; OA1; X-linked recessive ocular albinism; Nettleship-Falls type ocular albinism; OA1; X-linked recessive ocular albinism; XLOA; X-linked ocular albinism See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders

Summary Summary

Ocular albinism type 1 (OA1) is a genetic eye condition that primarily affects males. Signs and symptoms may include reduced coloring of the iris and retina (ocular hypopigmentation); foveal hypoplasia (underdevelopment); rapid, involuntary eye movements (nystagmus); poor vision; poor depth perception; eyes that do not look in the same direction (strabismus); and increased sensitivity to light.^[1]^[2] It is caused by mutations in the GPR143 gene and is inherited in an X-linked recessive manner.^[1]^[2] Females have been affected in rare instances. Treatment consists of visual correction with eyeglasses or contact lenses; use of sunglasses or special filter glasses for light sensitivity; and in some cases, extraocular muscle surgery to restore alignment and/or improve head posture that is associated with nystagmus.^[2]

Last updated: 8/6/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal pupil morphology	Abnormality of the pupil Pupillary abnormalities Pupillary abnormality [ more ]	0000615
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Ocular albinism	Absent pigmentation in the eye	0001107
Photophobia	Extreme sensitivity of the eyes to light Light hypersensitivity [ more ]	0000613
30%-79% of people have these symptoms
Freckling		0001480
Hypoplasia of the fovea		0007750
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
5%-29% of people have these symptoms
Giant melanosomes in melanocytes		0005592
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Neoplasm of the skin	Skin tumors Tumor of the skin [ more ]	0008069
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Percent of people who have these symptoms is not available through HPO
Depigmented fundus		0007680
Nystagmus-induced head nodding		0001361
X-linked inheritance		0001417

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2019

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Ocular albinism type 1 is caused by mutations in the GPR143 gene.^[2] This gene gives the body instructions for making a protein that plays a role in pigmentation (coloring) of the eyes and skin. It helps control the growth of melanosomes, which are structures inside cells that make and store a pigment called melanin. Melanin also plays a role in vision in the retina. Mutations in the GPR143 gene can affect the protein's ability to do its job. As a result, melanosomes in skin and retinal cells can grow abnormally large, contributing to the signs and symptoms of the condition.^[1] In rare cases, the genetic cause of this condition is unknown.

Last updated: 8/6/2015

Inheritance Inheritance

Ocular albinism type 1 is usually caused by mutations in the GPR143 gene. In these cases, the condition is inherited in an X-linked recessive manner. Males are more commonly affected than females. This is because males have only one X chromosome and therefore one copy of the GPR143 gene. Females have two X chromosomes and therefore two copies of the GPR143 gene. If females have a mutation in one of their GPR143 genes, they still have a second normal GPR143 gene to compensate. Women with one mutated copy of the gene usually do not have vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination.

Occasionally, females will have more significant signs and symptoms of ocular albinism type 1. This may be due to:

A phenomenon called skewed X-chromosome inactivation
Inheriting two mutated copies of the GPR143 gene
Having a partial deletion of the X chromosome

Last updated: 8/6/2015

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

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.^[3]

Last updated: 8/10/2015

Prognosis Prognosis

Ocular albinism type 1 (OA1) a non-progressive disorder. Visual acuity typically remains stable throughout life, even often slowly improving into the mid-teens.^[4] Although nystagmus usually develops within the first 3 months of life, it can diminish with time. However, it rarely completely disappears.^[2] Because the specific ocular signs and symptoms in affected people can vary, the condition may cause some people to be more visually impaired than others. People with OA1 have a normal life expectancy.^[4]

Last updated: 8/6/2015

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include various types of oculocutaneous albinism (OCA), blue cone monochromatism, congenital stationary night blindness, ocular albinism with sensorineural deafness, cone dystrophy with supernormal rod response, Leber congenital amaurosis, complete and incomplete achromatopsia, X-linked congenital nystagmus (see these terms), and autosomal dominant infantile nystagmus syndrome. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Differential diagnoses include various types of oculocutaneous albinism (OCA), blue cone monochromatism, congenital stationary night blindness, ocular albinism with sensorineural deafness, cone dystrophy with supernormal rod response, Leber congenital amaurosis, complete and incomplete achromatopsia, X-linked congenital nystagmus (see these terms), and autosomal dominant infantile nystagmus syndrome.

Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

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.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

National Alliance for Eye and Vision Research (NAEVR)
1801 Rockville Pike, Suite 400
Rockville, MD 20852
Telephone: 240-221-2905
Fax: 240-221-0370
E-mail: jamesj@eyeresearch.org
Website: http://www.eyeresearch.org/
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: info@preventblindness.org
Website: http://www.preventblindness.org/
The National Organization of Albinism and Hypopigmentation (NOAH)
PO Box 959
East Hampstead, NH 03826-0959
Toll-free: 800-473-2310;
Telephone: 603-887-2310
E-mail: noah@albinism.org
Website: http://www.albinism.org
Vision of Children Foundation (VOC)
12671 High Bluff Drive, Suite 300
San Diego, CA 92130
Telephone: 858-799-0810
Fax: 858-794-2348
E-mail: cdenofrio@visionofchildren.org
Website: http://www.visionofchildren.org

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Ocular albinism type 1. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

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.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Ocular albinism type 1. Click on the link to view a sample search on this topic.

Diagrams/Images

A diagram of the eye can be found by visiting MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions. Click on MedlinePlus to view the diagram.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

How does this affect vision at night? Is night vision better or worse than day vision? How can one accommodate vision and deal with the light? Are there any learning disabilities associated with albinism? What about driving? See answer
How bad will it get? I'm 43. Will it get worse? See answer
I'm a woman who has ocular albinism 1. I'm the only person in my family that has it. My question is: I am pregnant and I want to know my chances of having children with ocular albinism? Will my sons or daughters be more affected? See answer

Have a question? Contact a GARD Information Specialist.

References References

Ocular albinism. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed 7/24/2009.
Gail Summers. X-linked recessive ocular albinism. Orphanet. April 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54. Accessed 6/27/2013.
Richard Alan Lewis. Ocular Albinism, X-Linked. GeneReviews. April 5, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1343/.
Richard Alan Lewis. Ocular albinism, X-linked. GeneReviews. April 2011; http://www.ncbi.nlm.nih.gov/books/NBK1343/. Accessed 6/27/2013.
Rosenberg T, Schwartz M. Ocular Albinism, X-Linked . GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa. Accessed 7/24/2009.