Is Ocular Albinism A Progressive Disease & Alternative Treatments For It?

Albinism is a generic term for a metabolic disease that can take very different forms. The cause is a congenital disorder in the formation of the pigment melanin, which is responsible for the color of the skin and hair. Those affected often have unusually light skin. The name of the disease is derived from the Latin word “albus”, which means “white”.

With ocular albinism, in turn, only the eyes are affected. Whether and how severe symptoms appear sometimes also depends on gender. Women with ocular albinism are less likely to suffer from visual defects than men. It is important that a doctor makes early diagnosis and determines the exact form of albinism. The severity of the eye damage ranges from minor problems to high-grade visual impairments.(1)

Is Ocular Albinism A Progressive Disease?

Ocular albinism is a progressive disease. It worsens over time if not the proper intervention measures are adopted. The type I ocular albinism which is an X-linked disease is the most common form of ocular albinism. It is a genetic disorder with visual impairment in the affected individuals. Problems with vision occur that become more severe over time. The affected person has normal skin and dark hair. Ocular albinism has been inherited as an X-linked genetic condition and caused by mutations in the G-143 protein receptor gene.(2)

Is There Any Alternative Treatment For Ocular Albinism?

Since this is a genetic condition, no cure is possible. The focus of treatment is to get the proper eye care and skin monitoring for abnormality signs. There is no specific alternative treatment as well and such treatments focusing on good eye care may be implemented. Some of the good habits to reduce eye strain and maintain eye health are as follows:

  • Exercise regularly
  • Go for regular eye exams
  • Have a balanced healthy diet that is rich in vitamin A and antioxidants
  • Have enough sleep
  • Reduce screen time
  • Use eye protection while in the sunlight
  • Wear goggles when doing anything that may cause eye injury(6)

Individuals diagnosed with albinism should be evaluated by an ophthalmologist to determine the extent of the disease and an annual eye examination should be performed. Dark glasses or a hat with a brim can help reduce photophobia or sun sensitivity. Eyeglasses or contact lenses can greatly improve the vision of affected individuals. Some patients get help from bifocal lenses. If vision is critically impaired, telescopic and other low vision equipment can be used to aid these patients.(4)(5)

Signs And Symptoms Of Ocular Albinism

Signs and symptoms such as decreased iris and retina color bad sight; foveal hypoplasia; increased sensitivity to light; poor depth perception; eyes looking at different directions; and rapid, involuntary eye movements.(2)(3)

Cause Of Ocular Albinism

Ocular albinism is caused by normal pigment cells in the eye (especially iris and retinal pigment epithelium) failing to produce normal amounts of pigment. How reducing the amount of pigment causes vision loss, nystagmus (causing the eyes to move involuntarily), and sensitivity to sunlight are not clear, and it is not necessary that the pigment itself plays a major role. Some other development paths in the visual development assembly line may be the reason.(3)

Diagnosis Of Ocular Albinism

The diagnosis of ocular albinism is based on characteristic eye examinations. Relatives of women who carry the albinism gene have some retinal pigment abnormalities, but visual changes are usually not observed in affected men. Very few women are affected by OA1, including nystagmus and foveal hypoplasia, and vision loss. Molecular genetic testing of the GPR143 gene can detect mutations in about 90% of affected men and can be used for confirmatory diagnosis.(3)

How Common Is Ocular Albinism?

The incidence ratio of ocular albinism is unknown. North American healthcare statistics do not list the frequency of these diseases. Educated estimates vary between 1 in 20,000 and 1 in 50,000. Due to frequent misdiagnosis, the incidence of ocular albinism may be more common than 1 in 50,000.(4)

References:

  1. Mártinez‐García M, Montoliu L. Albinism in Europe. The Journal of dermatology. 2013;40(5):319-324.
  2. Federico JR, Krishnamurthy K. Albinism. 2019.
  3. Kubasch A, Meurer M. Oculocutaneous and ocular albinism. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 2017;68(11):867-875.
  4. Manga P, Orlow SJ. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. The Journal of clinical investigation. 2011;121(10):3828-3831.
  5. Hertle RW. Albinism: particular attention to the ocular motor system. Middle East African journal of ophthalmology. 2013;20(3):248.
  6. Windell J. The Eyes Have It. Community Practitioner. 2018;91(2):24-26.

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