Ocular albinism refers to an inherited disorder. It is a condition in which the eyes do not or scarcely have the pigment melanin. The skin and hair of the affected person are normal or almost normal. Since there is no melanin in the eye, it leads to many different problems related to vision. Ocular albinism primarily affects males, as it is an X-linked disorder. It is very rarely seen in females.(1)
Is Ocular Albinism A Serious Condition?
Ocular albinism can lead to many vision problems. It can also present many emotional and social challenges to the affected person. Due to the various vision problems, there could be an impact on learning and securing employment. There can also be an inability to drive, which can be quite challenging.(1)
In ocular albinism, the nerves at the back of the eye and the retina are affected. The retina is present at the back of the eye and is responsible for sending signals to the brain about what the eyes see. In this condition, as the retina does not develop normally, the affected person sees things as blurry objects. A sharp image cannot be created by the retina and hence, the nerves present at the back of the eye cannot send a proper image to the brain.
The color of the eyes is another important characteristic of ocular albinism. Most people affected by this condition have blue eyes (iris). However, the blood vessels can be seen from the inside and they may give the iris a pink or red color.
There may also be other signs and symptoms seen in this condition, which may include-
Rapid, Uncontrollable Eye Movements- This is also known as nystagmus. The eyes suddenly move up and down, side to side and in circles. If this condition has affected a child, it usually gets better as the child grows older.
Photosensitivity-
Eyes may be quite more sensitive to light as there is not enough color in the eyes to protect the retina. In such a condition, wearing sunglasses or tinted contact lenses might help, especially while staying outside.(2)
- There may be a problem in perceiving the depth of an object(2)
- Both eyes may look in different directions(2)
- Eyes may be crossed or ‘lazy’ eyes. This is also known as strabismus. This is due to the muscle imbalance in the eyes.(2,3)
- Visual acuity may be reduced, causing problems at school, work and while driving.(3)
Can Ocular Albinism Be Reversed?
Ocular albinism is a genetic or an inherited condition. Due to the nature of this disease, it cannot be reversed. With treatment, the symptoms can be managed, and the quality of life can be improved. Further vision damage can be avoided or delayed with treatment.
Melanin in our skin is made by cells known as melanocytes. These melanocytes are present in skin, hair, and eyes. When there is a mutation in one of the genes responsible to produce melanin, it results in albinism. There are different types of albinism, which depend upon what gene is affected due to mutation. The changes in the gene can result in no melanin or less melanin production.
Ocular albinism is primarily restricted to the eyes. This leads to various vision problems. Ocular albinism usually occurs only in males as it is an x-linked disorder and, very rarely in females.
Type 1 of ocular albinism is the commonest form seen.(2,3)
Conclusion
Ocular albinism is a genetic disorder that primarily affects the eyes. it is more commonly seen in males and very less common in females. As it is a genetic disorder, it can not be reversed. Treatment can help in arresting any further vision damage. However, if left untreated, ocular albinism can lead to serious vision impairment.
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