Ocular albinism is an inherited disease that develops due to mutations in the specific genes that play an essential role in the synthesis of melanin. It is marked by complete absence or partial presence of melanin. This disorder typically affects the eyes. It leads to depigmentation of the eyes, sensitivity to light, and vision problems. It affects both men and women, but it is more commonly seen in men. It can appear in the individuals belonging to any race or ethnic group. It is detected by physical examination, evaluation of the symptoms, genetic tests, and many more. It can be treated by protection from sunlight and corrective surgery.
What Are The First Symptoms Of Ocular Albinism?
Ocular albinism is a rare genetic disease in which the eyes of the affected individuals have less or no melanin. Reduced or absence of the melanin in the eyes impairs the vision of the affected person. It is more common in males than in females. It is caused due to mutation in the GPR143 gene responsible for the production of melanosomes, the sites of melanin synthesis.(2)
The first symptoms of ocular albinism are-
Blurred vision– Things look blurry to the patients with ocular albinism because the retina is underdeveloped in them. This retina fails to make a sharp image, and the ocular nerves (the nerves behind the eyes) cannot transmit a clear picture to the brain.
Color of eyes- Another initial symptom of this disorder is the way the eyes look. Albinism impairs the body function to manufacture sufficient chemical called melanin, which provides eyes, skin, and hair their color. Most people with this genetic disorder have blue eyes. In some cases, the blood vessels inside the eyes can be seen through the colored part (the iris), and the eyes may appear pink or red.
Other symptoms of ocular albinism are-
- Uncontrolled Quick eye movements (nystagmus)
- Sensitivity to sunlight or bright lights
- Eyes that look in different directions
- Problems with depth perception
- Crossed eyes (Strabismus)(1)
- Skin and hair is pale white, yellow, or unusually light
- Patches on the skin
- Pale eye color (may appear red when lighting conditions cause blood vessels toward the back of the eye to be seen)
- Astigmatism – formation of distorted images in the retina
- Macular Hypoplasia – improper development of the macula (a part of the retina) involved in vision clarity(3)
How Do You Test For Ocular Albinism?
The ways to test ocular albinism-
Ocular albinism may represent signs and symptoms similar to many other clinical conditions. The eye specialist may conduct additional tests to differentiate this condition with different clinical conditions to establish a definitive diagnosis. It includes-
- Physical Examination- The doctor will perform the complete physical inspection of the eyes. He will perform a visual exam of pigmentation in hair, skin, and eyes.
- Assessment Of Symptoms- He will evaluate the present manifestations of the patient.
- Assessment Of Family History- He will inquire about the complete medical history of the patient’s family history to understand its genetic link.
- Eye Examination- he will examine the patient’s eyes to find out structural abnormalities
- Complete Vision Examination- It is done to know the impacts of the disorder on the vision.
- Visual-Evoked Potential (VEP) Testing- it is performed in children who have visual problems to assess the extent of the issues.
- Prenatal Genetic Testing- It is done in pregnant ladies if a family history of ocular albinism is present to rule out this disorder in the unborn child and check out the causative mutations in the fetus.(2)
The initial symptoms of ocular albinism include blurred vision and blue, pink, or red coloration of the eyes. This disorder can be tested through physical examination, complete medical history, family history, eye examination, and others discussed above.
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