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Ocular Albinism: Q&A About Albino Eyes

Next, Flo answers some common questions about ocular albinism. Check the medicine-backed facts about this genetic disorder and find out how albino eyes affect vision and quality of life.

Ocular albinism is a genetic disorder that mainly affects the eyes. It decreases the pigmentation or coloring of the iris and the retina (the tissue present at the rear end of your eyes that is sensitive to light). Eye pigmentation is necessary for normal vision.

Albinism — a class of hereditary disorders, which is characterized by an abnormality in the distribution or synthesis of melanin — may be classified into two categories:

  • Ocular albinism
  • Oculocutaneous albinism

Albinism is an abnormality of pigmentation of the hair, skin, or/and the eyes. 

Oculocutaneous albinism affects both the eyes and the skin, and ocular albinism affects mainly the eyes with very little to no impact on the skin. 

Oculocutaneous albinism is primarily an autosomal recessive disease, while ocular albinism is either an autosomal recessive or sex-related disease. 

Ocular albinism affects mostly males and occurs less frequently than oculocutaneous albinism.

Ocular albinism severely impairs visual acuity, or clarity of vision, and causes difficulty with stereoscopic vision, which is the ability to combine the vision of both the eyes to see depth or the three-dimensional form and shape of an object. This vision impairment is usually permanent, but it may not get worse with time. Other abnormalities of the eyes that may be associated with ocular albinism include:

  • Rapid and involuntary movements of the eyes or nystagmus
  • Eyes that look in different directions or strabismus
  • Increased sensitivity of the eyes to light or photophobia
  • Extreme farsightedness or nearsightedness
  • Abnormal curvature or arching of the front lens or eye surface known as astigmatism that may lead to blurring of vision
  • Abnormal retinal development leading to reduced vision
  • Complete blindness or legal blindness, which is characterized by visual acuity of less than 20/200

Many people with ocular albinism may also develop abnormalities of the optic nerves that transmit visual information/signals from the eyes to the brain.

People with ocular albinism generally have normal color vision or color perception.

Ocular albinism is caused by mutations in the GPR143 gene, which gives instructions for the production of a protein involved in the pigmentation of the skin and eyes. It also helps in controlling the growth of cells called melanocytes, which manufacture and store the pigment melanin. Melanin gives the eyes, hair, and skin color. This pigment also helps to maintain normal vision in the retina.

Ocular albinism is a genetic disease and isn’t curable. The focus of treatment is, therefore, to get proper care for your eyes to manage the symptoms. A health care team for managing ocular albinism may include a primary care physician, an ophthalmologist, and physicians specializing in genetics.

No particular medical treatment for ocular albinism is available. If you have errors of refraction, these may be rectified, and certain people may benefit from using prescription bifocal lenses. Telescopic and other types of low-vision devices may help people who have severe impairment of visual acuity. People with ocular albinism should also have a yearly eye exam.

Surgery is rarely a part of the treatment program, but an ophthalmologist may advise surgery on the muscles of the eye to minimize the symptoms of nystagmus. Surgery to rectify strabismus may reduce the appearance of the condition.

The eye color in albinos may range from brown to very light blue. Due to the absence of pigmentation in the irises, they sometimes appear to be translucent and cannot completely block the entrance of light into the eyes. Due to this, albino eyes that are very-light colored may look red in certain lighting.

It depends on specific country regulations. Here is some information about the US:

  • You may have albinism eyes and low visual acuity but still want to drive. However, the vast majority of laws about driving are based on vision. The visual acuity in many individuals with ocular albinism may range between 20/70 and 20/200 with the use of standard corrective lenses. Certain road authorities may accept a visual acuity of 20/100 for a driver’s license (restricted) using standard corrective lenses. You may also need a recommendation from an ophthalmologist. It may also be necessary to demonstrate the ability to drive a motor vehicle properly and safely.

If you have ocular albinism, a number of restrictions will be placed on your driving license, including the following: 

  • The authorization to drive only in a particular geographical area or on specific routes or during certain particular hours in a day
  • The use of a specific vehicle (such as with an automatic versus manual transmission) along with the use of other particular devices or equipment
  • The need for more rigorous and frequent testing or specialized training, which isn’t needed by other drivers
  • Certain kinds of distance optical magnification equipment (prescription) may be essential to meet the requirements of the road authorities, such as a bioptic telescope to increase visual acuity

You may also be required to provide specific information on your visual capacities, including the following:

  • Uncorrected and corrected visual acuity (distance)
  • Improved visual acuity (distance) with a 2X-4X bioptic lens system (prescription)
  • Peripheral vision
  • Stability of eye problem
  • Color and depth perception capacities
  • Capability to coordinate eye, neck, and hand movements
  • Glare recovery, contrast sensitivity, and luminance

Ocular albinism cannot be cured, but there are lifestyle measures you can take to help you manage your low vision and protect your eyes. Use aids to help with low vision such as a tablet that is synced with a smartboard, a magnifier or a monocular that attaches to glasses, or a magnifying glass (hand-held). Dark sunglasses that block ultraviolet rays or photochromic lenses, which darken in dazzling or bright light, or a hat with a brim can all help protect your eyes.

https://www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189

https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184

https://www.ncbi.nlm.nih.gov/pubmed/29018889

https://ghr.nlm.nih.gov/condition/ocular-albinism#diagnosis

https://rarediseases.org/rare-diseases/ocular-albinism/

https://www.albinism.org/information-bulletin-albinism-and-driving/

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