Ocular Albinism

Ocular albinism (other names are Nettleship-Falls Ocular Albinism, Ocular Albinism Type 1, X-Linked Ocular Albinism (XLOA))  is a genetic condition that primarily impacts 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.

What is Ocular Albinism?

• Ocular Albinism (OA) is a rare congenital disease, defined by the partial or complete lack of the pigment melanin, in the eyes of the impacted people. The minimized or missing melanin in the eyes affects vision in those with OA.
• Ocular Albinism Type 1 is the most common form of the disorder. OA is mainly reported in males, considering that it follows an X-linked inheritance pattern.
• Having a family history of OA is a substantial risk factor for being born with the disorder. Ocular Albinism is known to be triggered by anomaly( s) in the GPR143 gene. This gene manages the formation of melanosomes, which are the sites of melanin synthesis.
• Loss of pigmentation in the eyes, sensitivity to light, and decreased vision acuity are some common symptoms of the condition. A diagnosis of the condition is undertaken based upon the providing symptoms, vision test, and hereditary tests, if necessary.
• Protecting the eyes from sunlight and corrective surgery for vision defects are the primary treatment methods thought about for this disorder. Ocular Albinism is a genetic condition, and is for that reason, not preventable. However, the diagnosis is good most of the times, and the impacted people can lead a normal quality of life.

Who gets Ocular Albinism?

• Ocular Albinism is uncommon, affecting roughly 1 in 20,000 to 1 in 60,000 individuals.
• The disorder mainly impacts males.
• People coming from all races and ethnic groups are prone to OA.

What are the Risk Factors for Ocular Albinism?

The following are some known risk factors for Ocular Albinism:

• A family history of OA.
• The male gender.

It is necessary to note that having a risk element does not imply that a person will get the condition. A risk element increases one’s possibilities of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Likewise, not having a risk factor does not imply that a person will not get the condition. It is constantly essential to go over the impact of risk factors with your healthcare provider.

What are the Causes of Ocular Albinism?

Ocular Albinism is caused by mutations in the G protein-coupled receptor 143 or GPR143 gene.

• Under normal scenarios, the GPR143 gene codes for a protein in the retina and skin cells. This protein plays a vital role in the development of coloring in the eyes by managing the formation of melanosomes. These structures are the seats of melanin synthesis and storage.
• When the gene is mutated, the resultant protein has an aberrant structure or size. This interferes with the function of the protein, such that appropriate growth and maturation of the melanin-producing structures do not occur.
• Additionally, the melanin in retinal cells also plays a significant function in normal vision. For that reason, people with the ocular type of albinism also present with different problems with their vision.

This disorder is mainly reported in males, because it is inherited in an X-linked manner. In this type of inheritance, the faulty gene is continued the X chromosome. Women have two X chromosomes, and the untouched gene copy masks the effects of a faulty gene copy. However, considering that males have just one X chromosome inherited from their mom, the faulty gene is expressed in them, triggering the disorder.

What are the Signs and Symptoms of Ocular Albinism?

The symptoms and signs of Ocular Albinism might vary among afflicted individuals in type and severity. In many affected individuals, the hair and skin color are normal, although some might provide with a lighter shade of skin and/or hair color when compared to unaffected member of the family.

The following are some common symptoms of the condition:

• Pale blue, red, or purple iris (eye).
• Decreased vision/visual clarity.
• Blurred vision.
• Sensitivity of eyes to light.
• Nystagmus – an irregular and continuous eye motion.
• Astigmatism – formation of distorted images in the retina.
• Strabismus – crossed eyes.
• Macular hypoplasia – improper development of the macula, which belongs of retina involved in vision clarity.

How is Ocular Albinism Diagnosed?

The medical diagnosis of Albinism is made by the following tests and exams:.

• A comprehensive physical examination and evaluation of symptoms.
• An evaluation of family medical history.
• Examination of the eyes for structural abnormalities.
• Vision examination.
• Visual-evoked potential (VEP) testing in children with visual issues.
• Hereditary testing for examining causative gene anomalies in the fetus, if a family history of Ocular Albinism exists.

Many scientific conditions might have similar symptoms and signs. Your healthcare provider might perform additional tests to eliminate other clinical conditions to get to a conclusive medical diagnosis.

What are the Possible Complications of Ocular Albinism?

The potential complications from Ocular Albinism include:

• Extreme sensitivity of eyes to light.
• Vision problems.
• Social isolation, which might affect the lifestyle.

How is Ocular Albinism Treated?

Ocular Albinism is dealt with in the following methods:

• Use of visual helps to assist low or poor vision.
• Tinted glasses to minimize light-sensitivity.
• Use of UV-protected sunglasses.
• Use of wide-brimmed hats to safeguard eyes from sensitivity to light.
• Surgical correction for conditions such as strabismus and nystagmus.

How can Ocular Albinism be Prevented?

• Ocular Albinism is a congenital disease, and no specific techniques or standards exist to prevent the condition.
  Hereditary testing of the anticipating parents (and related family members) and prenatal medical diagnosis (molecular screening of the fetus during pregnancy) might assist in comprehending the risks much better during pregnancy.
• If there is a household history of the condition, then hereditary therapy will help examine risks, before preparing for a child.
• Yearly eye and vision exams are extremely advised to avoid advancement of complications.

Active research is currently being performed to check out the possibilities for treatment and avoidance of inherited and acquired congenital diseases such as Ocular Albinism.

What is the Prognosis of Ocular Albinism?

• The diagnosis of Ocular Albinism readies, as life expectancy is typically not impacted in those with OA.
• Nevertheless, due to light-sensitivity of the eyes, the choice of activities/profession of some individuals may be restricted.
• Regular eye assessments and vision acuity tests can help decrease complications.