How To Diagnose Ocular Albinism & What Is The Best Medicine For It?

Ocular Albinism is a genetic disorder characterized by depigmentation of the eyes and vision problems. It happens due to the partial or complete absence of pigment melanin. It is X linked genetic disorder that appears due to a mutation in the genes responsible for the synthesis of melanin. It is more prevalent in males than in females. Its symptoms involve blurred vision, red or blue colored eyes, sensitivity to light, and many more. It can be managed with special glasses or contact lenses. It does not get worse with time. If it appears in early childhood, eyesight gets better as the child ages.

How To Diagnose Ocular Albinism?

Ocular Albinism can be diagnosed by your ophthalmologist based on various tests. These tests involve the following-(1)

Physical Examination- he will perform the complete physical inspection of the eyes. He will perform a visual exam to find out pigmentation in hair, skin, and eyes.

Assessment Of Symptoms- Doctor will evaluate the present manifestations of the patient and analyze the severity of the case.

Assessment Of Family History- He will inquire about the complete medical history of a patient’s family history to understand its genetic link and evaluate the risk of the genetic inheritance in the offsprings.(1)

Electroretinography- Regarding the vision, the ophthalmologist will perform electroretinography. It is an examination that is used to measure the electrical response of the eye’s cells (cells of the retina) towards the light. It calculates the electrical activity of the retina through an electrical sensor kept on each eye in response to a blinking light.(2)

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 ocular albinism 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 Albinism is present to rule out this disorder in the unborn child and check out the causative mutations in the fetus.(1)

What Is The Best Medicine For Ocular Albinism?

Albinism is a chronic disorder for which there is no specific treatment as it is a genetic disease. The low production of melanin or the anomalous development of the central vision cannot be corrected. However, there are specific treatment procedures that can help in the improvement of the vision of people with ocular Albinism.

In ocular Albinism, the eyes are sensitive to sunlight. It is an essential part of the treatment of this disorder that eyes should be protected from sunlight, which can be done with sunglasses. Eyeglasses are recommended to correct vision defects that arise due to this disorder.

The best medicine for ocular Albinism is glasses with special filters that are designed to improve vision and reduce sensitivity towards light or photophobia. To have better vision and less sensitivity to light, the use of sunglasses during exposure to ultraviolet rays is most important to avoid major complications. Sunglasses should be graduated so that the person with this disorder can feel more visual comfort. The use of colored lenses is also recommended for those who have anisometropia (who have different powers in both eyes) to treat light sensitivity.(2)

Conclusion

Ocular Albinism can be diagnosed after a complete evaluation of the medical history, symptoms, and family history of the patient. Genetic tests, physical examination, eye examination, and others mentioned above can also help to confirm the diagnosis and rule out other similar disorders. Sunglasses with special filters and correct powers can be the best medicine to deal with the sensitivity of the eyes ton light and vision problems.

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