Inspire is now available in the US and Australia.

Ocular Albinism

Home/Ocular Albinism
Ocular Albinism2022-10-14T02:49:03+00:00

Share

Ocular Albinism:
Symptoms, Causes, Diagnosis, and Treatment Options.

Last updated: Oct 13, 2022

Ocular Albinism:
Symptoms, Causes, Diagnosis, and Treatment Options.

Last updated: June 14, 2022

Share

Introduction

People have varying skin tones—some have very fair complexions, others are pale, and some are black. Similarly, you will also notice that people across the globe all have different shades of eye color—brown, black, blue, gray, and unique hair colors.

What makes our appearances so different from each other?

The human body contains a coloring pigment called melanin, which gives our eyes, skin, and hair their unique color.

Some people are born with a startlingly fair complexion, blue eyes, and light-colored hair. As alluring as it may sometimes look, this happens due to an underlying condition called Albinism.

Albinism is a group of inherited disorders characterized by an absence of the coloring pigment, melanin.

In Albinism disorders, specific genes responsible for the production of melanin in our body undergo abnormal changes. These abnormal changes may have either of two results: in some cases, the body produces an insufficient amount of pigment, and at other times it produces no pigment.   

There are several different types of Albinism, each caused by the mutation of specific genes.

The two most common types of Albinism are:

  • Ocular Albinism 
  • Oculocutaneous Albinism  

Of the two types, Oculocutaneous Albinism (OCA) is easily recognizable and is the most common type of Albinism. It affects the hair, skin, and eyes of a person.

Oculocutaneous Albinism has a global prevalence of 1 in 20,000 people.

The second type, Ocular Albinism (OA), is a rare form of Albinism disorder that almost exclusively affects males. It mainly affects a person’s eyes and has been reported to occur in 1 in 20,000 males.

Moving forward, we will discuss in detail why Ocular Albinism occurs, its causes, common signs and symptoms of Ocular Albinism, and the possible Ocular Albinism treatment options.

What is Ocular Albinism?

Ocular Albinism is one of the two main types of albinism. The term originates from the Latin words "albus," meaning "white," and "oculo," meaning "eyes." Thus, Ocular Albinism is a disorder that primarily affects the eyes.

It is characterized by an absence of coloring pigment, specifically in the eyes, leading to poor vision and other problems in eyesight.

Highlight:

The term originates from the Latin words "albus," meaning "white," and "oculo," meaning "eyes."

How does Ocular Albinism affect the eyes?

The gene mutation that causes Ocular Albinism leads to the abnormal development of structures within the eye. This includes the iris (colored tissue in the center of the eye) and the retina (responsible for processing visual information and transferring it to the brain). 

When the iris and retina are not developed properly, it results in a number of visual difficulties, such as blurry and unclear vision, as well as poor near and far vision.

It may also cause involuntary movement of the eyes and make you sensitive to bright lights. 

The visual deficits in Ocular Albinism are present at birth and become more evident as the baby grows up. However, these albinism eye problems do not worsen; they may sometimes improve with time.

What do eyes with Ocular Albinism look like ?

As Ocular albinism mainly affects the eyes and visual ability, people who have this condition appear to have normal skin and hair but have a significant visual impairment.

In different variants of Ocular Albinism, the coloring pigment ‘melanin’  is either insufficient or completely absent, which is why people tend to have light blue or green-colored eyes.

Some people may even appear to have red or pinkish eyes. It is usually because tiny blood vessels in the eyes show through the light-colored irises, making the eyes look pink in color.

Babies born with this condition grow up to be healthy adults except for having Ocular Albinism vision problems. An early symptom includes involuntary movements of the eyes (nystagmus) from side to side or up and down, which is why a child with Ocular Albinism may develop the habit of keeping their heads tilted at an angle to stabilize their vision.

Ocular Albinism Type 1 vs. Type 2

Depending on the specific gene mutation that causes it, Ocular Albinism has two types;

Ocular Albinism Type 1 (OA-1)

Ocular Albinism type 1, also known as Nettleship-Falls, is the most common type and affects about 1 in 60,000 men every year. It is caused by abnormal changes in the GPR143 gene, which is an X-linked gene, thus making OA type 1 an X-linked recessive disorder

The prevalence of Ocular Albinism in females is rare. In simpler terms, an X-linked disorder typically only affects males, whereas a female remains unaffected even if she inherits a mutated gene from either parent.

Ocular Albinism Type 2 (OA-2)

Ocular Albinism type 2 is also known as Forsius–Eriksson syndrome. It is a very rare condition that results from the mutation of the CACNA1F gene. OA-2 affects 1 in 1 million men worldwide. The symptoms of Ocular Albinism type 2 are quite similar to those of Ocular Albinism type 1, except that it also causes night blindness and color blindness.

The symptoms of Ocular Albinism type 2 are quite similar to those of Ocular Albinism type 1, except that it also causes night blindness and color blindness. Try IrisVision today and overcome the visual difficulties.

Causes of Ocular Albinism

There are several genes in our body, each of which is responsible for producing certain chemicals required for normal functioning. GPR143 synthesizes proteins that make the coloring pigment.

Melanin, the coloring pigment, is needed by the skin, hair, and eyes. It gives an individual their unique skin and hair color and protects them from the harmful effects of the outside environment.

In the same way, melanin is needed for the normal development of structures within the eye and is essential for their proper functioning. When the gene mutation hinders the protein synthesis, it causes a deficiency of melanin, leading to various albinism eye problems. 

Ocular albinism is an inherited eye disorder. If you have a family history of Albinism, you may be at risk of inheriting it. Although it is an X-linked recessive condition, meaning it can only be passed down to a son from an affected mother.

Ocular Albinism in females is very rare. It only affects males since they only have a single X chromosome.

Signs and Symptoms of Ocular Albinism

As Ocular Albinism is a genetic eye disease, it is present from the time of birth, but the symptoms can only be observed when a baby is 2-3 years old. 

Typical symptoms of Ocular Albinism are described below:

Nystagmus

Nystagmus is a condition in which the eyes shift involuntarily from side to side or up and down. This uncontrolled movement obstructs vision and causes a person to have blurry vision.

This condition may not be present at the time of birth, but it usually appears 3 to 8 weeks later.

Strabismus

People with Ocular Albinism have difficulty focusing both eyes on a single point, also known as strabismus. One eye appears to move independently of the other, such that both eyes point in different directions.

This lack of focus can be troubling when a person is trying to read or taking a closer look at a specific object.

Astigmatism

As we’ve already established, insufficient melanin causes the internal eye structures to develop poorly. As a result, the lens of the eye develops an abnormal curve, resulting in astigmatism, a condition that causes hazy and impaired vision.

Although astigmatism is present at birth, its severity can only be determined after a child is old enough to read and recognize tasks.

Poor Depth Perception

In addition to other noticeable symptoms, people experience difficulty with spatial skills. Poor vision compromises depth perception. In normal vision, the eyes move in sync, and the combined visual information from both eyes allows you to perceive depth correctly.

The sense of depth perception is also known as stereoscopic vision.

It is especially important while doing tasks like climbing up the stairs, driving, putting things down on a surface, taking a turn across the hallway, etc.

Due to the eyes moving out of sync with each other, depth perception becomes compromised and may become a hazard.

It also hinders people from actively participating in sports, driving alone, or independently moving around outdoors.

Bobbing Head Movements

Tilted head position or bobbing movements may occur due to involuntary eye movements in Ocular Albinism. People do this unconsciously in an effort to stabilize their vision.

Associated Health Problems

Albinism disorders do not cause pain but can make a person sensitive to other distressing health issues, such as sunburn or skin cancer. In addition, visual impairment hinders daily life activities and may make a person feel disadvantaged and dependent upon others.

Legal Blindness

Ocular albinism does not cause blindness; however, the visual impairments can be severe enough to qualify as legal blindness. This means that people have a visual acuity of less than 20/200 in the better eye, even with the use of prescription eyewear.

Prevention of Ocular Albinism

While you may wish that something as simple as lifestyle changes and food options could help save your vision from getting affected by Ocular Albinism, it is unfortunately not the case.

Given that it is caused by a genetic mutation, Ocular Albinism cannot be prevented. It is an inherited (genetic) condition rather than an illness. But you can protect your children from inheriting it. Gene testing and genetic counseling can determine if a fetus may inherit albinism.

Genetic Counseling

For someone affected by Albinism disorder, genetic counseling is a method to prevent passing down the abnormal genes to one’s own children.

A genetics specialist who has specialized knowledge of how gene mutations develop. Through genetic counseling, which is a formal consultation, they can provide recommendations regarding who the disorder may be more likely to affect through genetic counseling.

A genetic counselor may begin by gathering information about your family's medical history as well as your personal history of allergies and genetic eye diseases. This can help you figure out who in your family has the mutated gene for Ocular Albinism and whether your children are at risk of inheriting it.

This knowledge enables you to make informed decisions for your family’s health and well-being.

Ocular Albinism Treatment Options

Ocular Albinism is a genetic eye disease that cannot yet be cured entirely.

But that does not automatically mean that people with this disorder cannot lead happy and healthy lives.

Various albinism treatments can help manage symptoms of Ocular Albinism, such as eye exercises and medication that improve visual clarity and help gain focus.

Minor eye surgeries help control involuntary eye movements and low vision aids for enhanced vision and independent living.

Eye Exercises

To begin with, the most simple and non-invasive method of improving vision in Ocular Albinism is the frequent practice of helpful eye exercises, such as "pencil pushups." They are proven to help your eyes get better alignment.

Ophthalmologists suggest that wearing an eye patch over your better eye can force your affected eye to gain muscle strength and improve focus.

Medication for Nystagmus and Strabismus

Some symptoms of Ocular Albinism, such as nystagmus (involuntary movement of the eyes), can be improved by the use of medicines such as gabapentin (antiseizure), baclofen (muscle relaxant), and onabotulinumtoxina.

Similarly, an anticholinergic agent (commonly called atropine) is available as eye drops that help improve crossed eyes (strabismus).

These drops work much the same way as an eye patch; they temporarily blur the vision of the better eye while a person attempts to focus with the affected eye, thus improving the eye muscle strength of the affected eye. 

Eye Muscle Surgery

Eye muscle surgery is one of the methods that helps alleviate symptoms of Ocular Albinism, such as involuntary movement and crossed eyes. The surgery aims to reposition ocular muscles so that the eyes move in sync with one another.

This reduces misalignment and the blurry vision that results from it.

This procedure is typically performed under general anesthesia. It may take anywhere between 3-6 months for the after-effects of the surgery to wear off and for you to see any noticeable improvement in your vision.

Low Vision Aids

Fortunately, in today’s time, several resources have specifically been built for people with low vision.

Optical and non-optical low vision aids are among the most successful devices for correcting Ocular Albinism. The visual difficulties associated with Albinism cannot be completely corrected with prescription glasses, medication, or surgery, but they can be managed well with low vision aids. 

These visual aids include hand-held magnifiers, handheld telescopes, video magnifier systems, and electronic low vision glasses. 

Technologically advanced visual aids are designed to use the remainder of a person’s vision and enhance it in the best possible way. This is achieved with features such as adjustable magnification settings, different contrast levels, and OCR (Optical Character Recognition).

IrisVision Electronic Glasses for Ocular Albinism

The leading low vision aids, IrisVision Inspire, was created with people who have ocular albinism in mind.

With efficient features and settings that can be adjusted to fit individual needs, IrisVision electronic glasses have helped thousands of people with low vision see better.

IrisVision Inspire are lightweight electronic glasses that have been FDA-approved as class 1 medical devices. It allows people with low vision to detect objects and faces easily, overcome poor night vision, see in high color contrasts with increased clarity, and also helps people become more mobile and independent as they learn to use IrisVision to carry out their routine activities.

Here’s a detailed rundown of the different modes of IrisVision electronic glasses and how they help improve Ocular Albinism vision. 

Scene Mode with Bubble View

IrisVision’s scene mode offers a unique way of viewing objects. The bubble view lets you magnify an object up to 14x, but what’s remarkable is its ability to keep the bigger picture in perspective while zooming in on a single point.

The bubble view is an ideal antidote to near and farsightedness in Ocular Albinism; it helps you get a clear and vivid picture of everything around you.

Scene mode can be effectively used for taking a clear look at things like a medicine prescription, a book’s title on the rack, or an object lying at a distance.

Television Mode

Considering how albinism vision can often strip you of entertainment options, IrisVision electronic glasses offer a ‘television mode’ that streams your favorite Netflix shows or anything else you may fancy watching.

You can think of it as your personal TV screen that lets you watch the same content as an average TV, but the picture is tailored according to your visual needs.

With the television mode of IrisVision, you can enjoy entertaining shows as well as anyone and not miss out on anything!

Bioptic Mode

People with Ocular Albinism struggle with blurred or unclear vision. While this cannot be entirely fixed, switching to IrisVision’s bioptic mode may still help you gain focus on specific areas in your view.

Bioptic mode lets you select specific sections of your surroundings and enlarges them in a separate window.

This characteristic can be beneficial in picking out books from a book rack or finding a jar from the kitchen cabinet.

Reading Mode; Black/White

Having difficulty with clear and stable vision can make you feel frustrated while trying to read. To help you overcome this difficulty, IrisVision’s reading mode shows texts against colored backgrounds. You can choose from a number of contrast options and stick to whichever allows you to see the best.

Adjustable Brightness Settings

People with Ocular Albinism have photosensitive eyes, meaning they cannot tolerate bright lights and experience discomfort in brightly lit places. IrisVision lets you adjust the brightness levels according to your comfort. This allows you to see in real-time, but only with modified brightness settings, whether indoors or outdoors.

Reading Mode; OCR

For people with Albinism vision, reading can be an ordeal. In some instances, it can be so troublesome that you may want to skip it altogether. For times like these, when you want to skim across words almost effortlessly, OCR proves to be an excellent problem solver. 

Optical Character Recognition (OCR) is IrisVision’s feature that reads aloud any text you focus on in a loud and clear voice, thus saving you the trouble of deciphering the sentences on your own.

This provision makes reading incredibly convenient; whether you’re trying to read bills, e-mails, prescriptions, or food labels, you can switch to this feature for easy understanding.

Image Gallery

IrisVision’s image gallery allows you to take snapshots and save them for later viewing. You can take a picture of a loved one or save a recipe page that you may want to use at a later time.

Video Mode

A considerable portion of global information is presented through visual media like newspapers, magazines, user manuals, video content, sign boards, billboards, brochures, etc.

For this reason, low vision can often create more than just visual difficulties for a person. The inaccessibility of all these knowledge sources can leave you feeling cut off from your surroundings, thus cultivating loneliness and a sense of being left out.

Low vision aids like IrisVision recognize this and offer device features that can help the low vision community stay in touch with the world around them and lead a healthy, independent life.

With this in mind, the IrisVision video player is yet another fantastic feature that allows you to keep up with your interests and make the most of your free time. It has a voice-enabled search linked with Google that browses the web according to your voice commands. With IrisVision’s video mode, you can also stream popular entertainment sites such as Netflix and YouTube.

Highlight:

IrisVision seamlessly integrates vision health into daily living and makes it accessible to everyone by targeting and enhancing central vision loss, impaired color vision, blind spots, and more. Try IrisVision Inspire Today.

"Even at school, I use IrisVision every day and it really helps me keep up in my classes. I am able to read everything clearly, especially in Geometry and History"

Isis Noneman, Optic Nerve Damage

FAQ

Can ocular albinism cause blindness?2022-10-13T14:46:21+00:00

No. Ocular albinism causes mild to moderate central vision impairment in most people. While individuals with this condition retain some vision, they may be legally blind.
Typically, they have a visual acuity of less than 20/200 with corrective eyewear, and it does not worsen over time.

What does someone with Ocular Albinism see?2022-10-13T14:47:25+00:00

Vision with Ocular albinism looks clouded and unclear, and the person faces difficulty focusing on a single point. Eye exercises may help stabilize vision and get a better focus on the object in sight.

Are all Albino’s legally blind?2022-10-13T14:49:07+00:00

Yes, while people with Ocular Albinism retain some vision, they may be considered “legally blind.’ Despite their impaired vision, most people learn to use their remaining vision effectively for tasks such as reading, cooking, and so on.

How long is the average lifespan of a person with Ocular Albinism?2022-10-13T14:51:37+00:00

An individual with Ocular Albinism has the lifespan of an average person, i.e., 72.6 years. The amount of colored pigment in skin, hair, and eyes has no systemic effect on the overall health of an individual.

Can Ocular Albinism be cured?2022-10-13T14:56:40+00:00

No, Ocular Albinism cannot be cured. However, effective management of symptoms can help improve vision. As eye care experts recommend, medication, eye exercises, and low vision aids can significantly enhance visual capacity and lifestyle.

Who is most likely to get Ocular Albinism?2022-10-13T14:58:21+00:00

Ocular Albinism is an X-linked recessive disorder that exclusively affects males. If the female parent carries the mutated gene for Ocular Albinism, it may be inherited by her children, but this genetic eye disease only affects men. Ocular Albinism in females is rare. They may be carrying the mutated gene but do not experience any signs or symptoms of Ocular Albinism.

Can Ocular Albinism be corrected with glasses?2022-10-14T02:30:55+00:00

Yes and no. Ordinary prescription glasses cannot treat ocular albinism, but IrisVision Electronic Glasses can considerably enhance albinism eyesight.
IrisVision electronic glasses have features such as high magnification power, bubble view mode, reading mode, OCR reader, and a 70-degree wide field of view.

Can Ocular Albinism get worse?2022-10-14T02:31:44+00:00

The onset of Ocular Albinism begins at birth and does not worsen over time. Instead, vision may even improve as a child grows older.

Can two Albinos have a normal child?2022-10-14T02:32:55+00:00

A child inherits the albinism gene if both parents are affected by it. If both parents carry the albinism gene but neither is affected, there is a 25% chance that the child will be albino at each pregnancy.

What causes Ocular Albinism?2022-10-14T02:33:58+00:00

Ocular Albinism is caused by the mutation of the GPR143 gene that halts the production of the coloring pigment, melanin, in the eyes. A lack of melanin in the eyes results in structural abnormalities and also causes mild to severe visual impairment.

What are the two types of Albinism?2022-10-14T02:34:56+00:00

Based on the gene mutated, there are two main types of Albinism. These include:

  • Oculocutaneous Albinism
  • Ocular Albinism

Oculocutaneous albinism affects the skin, hair, and eyes and is a common condition, whereas Ocular Albinism is relatively rare and only affects the eyes.

Are all Albino’s Legally Blind?2022-10-14T02:35:47+00:00

No. The severity of vision problems may vary among people with Albinism disorders. Some people may be considered legally blind, while others have better vision.

[rcblock id="20859"]

Hear what people are saying

August
July
June
Sep
twitter image
Juvenile Macular Degeneration Glasses for children

Title