Symptoms of Ocular Albinism & its Effects on Vision Health

//Symptoms of Ocular Albinism & its Effects on Vision Health

Symptoms of Ocular Albinism & its Effects on Vision Health

Each year, 1 in 20,000 males falls victim to the genetic mutation that causes Ocular Albinism and thereby becomes visually incapacitated for the rest of his life.

Ocular Albinism is one of the two main types of Albinism, the second type being Oculocutaneous Albinism. Ocular Albinism only affects the eyes, so people usually have normal skin and hair, but suffer from severely defective vision.

While such individuals may appear completely normal from their physical outlook, the visual deficits can cause impairment and discomfort in routine activities to a great extent. Most people with Ocular Albinism are legally blind, with only little visual capacity preserved.  

What Causes Ocular Albinism?

Ocular Albinism stems from a deficiency of the color pigment ‘melanin’ in the eyes, which is important for normal eye development and visual functions. A simple explanation for this is that a gene mutation in the body inhibits the synthesis of a protein that produces melanin, thereby hindering melanin production, and causing different forms of Albinism.

Individuals with Ocular Albinism have severely deteriorated vision, but the hair and skin are normal. Such people may sometimes have a fairer complexion in contrast to other family members.

There are different types of Ocular Albinism. The most common type is known as Nettleship-Falls, which will be discussed further. The visual difficulties are typically the same across all types of Ocular Albinism. The symptoms and vision problems for this condition are quite evident and can be self-diagnosed, but if you think you have it, be sure to consult an ophthalmologist to rule out which type you might have and continue treatment accordingly.

Here is a brief overview of the symptoms.

Symptoms of Ocular Albinism

People with Ocular Albinism have normal skin and hair, however, they have several visual deficits. 

The onset is typically from the point of birth, but many symptoms can not be detected until a child is 2-3 years old. Some typical symptoms are explained below:

  • Nystagmus: It is the involuntary, rapid movement of the eyes, either side to side or up and down. It disrupts the vision and makes it difficult to see clearly. This condition may not be present at birth but develops between 3 to 8 weeks after birth.

  • Strabismus: It is the inability to direct both eyes at one point of focus. Such people appear to have one eye that moves free from the other, pointing in a different direction. A lack of focus due to strabismus can make reading, writing, and other routine tasks very difficult.

  • Refractive error: People with Ocular Albinism have a severe degree of either nearsightedness or farsightedness. Mostly, people with Ocular Albinism have a visual acuity less than 20/20, but it may range from 20/30 to 20/400.

    Due to the underdevelopment of the retina, the eye cannot take an accurate picture of what it sees, and thus it transmits a faulty image for the brain to process. This is why prescription glasses also cannot completely minimize visual error.

  • Photophobia: Sensitivity to bright lights i.e. sunlight, fluorescent or LED lights can all be a cause of intense discomfort for people with ocular albinism.

  • Astigmatism: Astigmatism refers to the abnormal curvature of the lens inside the eye, which results in blurred and unclear vision. Although this deficit is present by birth, its extent and intensity can only be analyzed when a child is old enough to understand reading or recognizing tasks.

  • Abnormal development of the retina, resulting in reduced vision. Reduced visual acuity and blurry vision together may often restrict the affected people from being able to carry out activities such as shopping, reading, driving, etc.

  • Poor depth perception and fine motor skills, which prevents them from taking part in sports activities.

  • Tilted head: Head movements such as bobbing or tilting the head, to try to reduce the involuntary eye movements and see better.

Vision Problems Associated with Ocular Albinism

It can be unimaginably hard to go about routine activities with reduced vision, and that’s exactly what happens to people with Ocular Albinism. The vision becomes so blurry and unfocused that carrying out the most basic tasks can seem like a tremendous challenge.

If you have a family member who may have Ocular Albinism, they will likely be hampered in overcoming daily challenges and need assistance.

  • Inability to Read or Write Clearly: One of the most basic modes of communication is written text. It includes being able to read signs, symbols, directions, or instructions for a recipe, and to write them. People with Ocular Albinism have reduced visual clarity, so it is harder for them to read anything from a distance. They may be able to write with some effort, but they have to be at a very close distance to read any text.

    This can be observed in the classroom, where young kids begin to face difficulty in reading the whiteboard. This inability works its way into adulthood with the same intensity, if not improved. To counter it, low vision magnifiers and low vision glasses are often helpful.

  • Inability to Drive or Play Sports: Ocular Albinism also compromises the depth perception and fine motor skills of a person, which can restrict them from independently moving around or driving safely. A driver’s license in most states requires a minimum of 20/70 eyesight, but usually, people with Ocular Albinism have a weaker vision than this. Also, the inability to judge the right distance between oneself and an approaching object can make driving a dangerous feat.

    It is best if people with low vision opt for safer choices such as public transport, or a friend’s ride, and use assistive devices for ease of navigation. Given the weak motor skills, most people with Ocular Albinism also cannot play sports or other activities that involve hand-eye coordination and fine motor skills.

  • Tilted Head Posture: Among other problems that are posed by low vision due to Ocular Albinism, a head tilt can sometimes become persistent and be a source of added discomfort for a person. The involuntary eye movement in Ocular Albinism encourages a person to shift positions of his head until the uncontrolled eye movement finally comes to a halt.

    This lets them enjoy a stable and clear vision. This specific position where involuntary eye movement is slowest or stops completely is called null point. While it can help get better vision, it often causes other problems such as permanent muscle tightening, neck aches, and headaches. Also, it makes individuals appear odd and be subjected to social exclusion.

  • Discomfort in a Brightly Lit Environment: People with Ocular Albinism are photosensitive, meaning that they find bright lights very repulsive. This is why they wear dark shades while heading outside in the daylight and avoid glaring lights indoors as well.

    It takes several months to recognize if a newborn is experiencing Photosensitivity.

  • Congenital Deafness (Waardenburg Syndrome): It is a syndromic form of Albinism that is characterized by sensorineural deafness. People who have this condition are deaf by birth, have balance problems, and also struggle with the visual difficulties of ocular albinism.

    Some affected people also have light-colored eyes, light skin tone, and a fragment of their hair above the forehead is silvery white. However, this is a rare complication with a global prevalence of approximately 1 in 40,000 people.

Is Ocular Albinism a Progressive Disease?

As Ocular Albinism is a genetic condition, it is present when a baby is born but it is not progressive or degenerative, so the visual abnormalities do not worsen over time. Fortunately, some vision problems can even be well managed and improved by the use of low vision aids, and other safety measures that help prevent complications.

Low vision aids for Ocular Albinism

For instance, it is observed in children who are born with Ocular Albinism that the involuntary eye movement reduces with time, especially after age 5-8 years. Most adults adapt and can control it to a significant extent.

Others with Ocular Albinism use different low vision aids to cater to the visual challenges. 

As with all hereditary diseases, people who have Ocular Albinism may be at risk of passing it on to their children. But methods of genetic testing and counseling support can be of invaluable support for its prevention.

About the Author:

James has been passionate about physical fitness and mental wellbeing. With an aim to educate the masses about topics related to healthcare through his articles and blog posts – James has a unique style that turns an informative content into an enjoyable read.

All The Best Things In Life Are Free

Learn from leading vision scientists and industry experts using our free downloadable resources


You've learned enough to earn a 100$ discount on IrisVision low vision assistive technology