Who Is At Risk For Ocular Albinism & Is There A Blood Test For It?

Ocular albinism is a genetic disorder that primarily affects the eyes. It is a disorder in which there is an absence or scarce presence of the pigment melanin in the eyes. Melanin is responsible for the color of your skin, hair, and eyes. In ocular albinism, melanin affects the eyes, including eyelashes, eyebrows and irises.(1,2)

Who Is At Risk For Ocular Albinism?

Children are at risk for ocular albinism if their parents have albinism or even if one of their parents has a gene for albinism. Ocular albinism results due to a genetic mutation. It is an X-linked disorder, which means that the gene that causes this defect is located on the X-chromosome. Males have only one X chromosome. Hence, just one changed copy of the gene in each cell is enough to create the characteristics of ocular albinism. Females, however, have two X-chromosomes. Hence, if there is a changed copy of the gene in each cell is usually not enough to create characteristics of ocular albinism. Some mild changes in the retina can be seen through, during a routine eye examination.

When the gene GPR143 is mutated, it causes ocular albinism type 1. This gene performs the role of providing instructions for creating a protein that gives the eyes and skin color. This gene also helps in controlling melanosomes. Melanosomes make and store a pigment known as melanin. Melanin imparts color to your skin, hair and eyes. This pigment is present in the retina as well and plays a crucial role in imparting normal vision to you.(4)

Is There A Blood Test For Ocular Albinism?

There is no blood test specially designed to diagnose ocular albinism. Genetic testing could provide a confirmed diagnosis, however, that is almost never required as ocular albinism is mainly a clinical diagnosis. The characteristic signs of loss of melanin provide a great parameter to tread along this path. Thorough eye tests can be further conducted to confirm the diagnosis. The VEP or visual-evoked potential test is the most accurate test for the diagnosis of ocular albinism. The VEP is asymmetrical between the two eyes if there is ocular albinism. There is also a misrouting of optic pathways in the case of ocular albinism. Genetic testing can help in determining the type of albinism a person is affected by.

Ocular albinism can be diagnosed based on the following-

  • A complete physical examination
  • A thorough eye examination
  • Comparing the child’s pigmentation with that of the other family members
  • Reviewing the child’s medical history for other signs like bleeding, bruising, etc.
  • An eye examination is performed by an ophthalmologist
  • Eyes are examined for nystagmus, strabismus, photophobia, etc.
  • The retina is also thoroughly examined to check for any abnormality in its development

Once ocular albinism is diagnosed, a genetic examination can help to determine the type of ocular albinism. The commonest type of ocular albinism is type 1. Treatment can be decided accordingly.(3)

Treatment For Ocular Albinism

Ocular albinism is a genetic disorder. Hence, it cannot be reversed or cured. Treatment will primarily aim at delivering required eye care and keeping vision problems from worsening further. Treatment will usually consist of-

Imparting Eye Care Primarily- An annual eye examination will be conducted by an ophthalmologist. Prescription corrective lenses would be recommended most likely. If there is severe nystagmus, surgery may be needed to reduce it. Surgery may also be recommended to correct strabismus if cosmetically desired.

Observing For Other Signs- Keeping a close eye on other signs and symptoms that may develop, may help in managing the condition effectively.(3)

Conclusion

Ocular albinism is a genetically related disorder that affects primarily the eyes. There is no blood test to diagnose ocular albinism since it is mainly a clinical diagnosis. However, genetic testing can reveal the type of ocular albinism and may also help in deciding the course of treatment for the same.

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