Ocular albinism is a genetic and hereditary disease that results in defective eyesight and a partial or total deficit of eye pigmentation. This can be accompanied by depigmentation of the skin (oculocutaneous albinism).
It is a genetic disease characterized by a decrease in the synthesis of melanin in the epidermis. Melanin is a pigment that normally colors the iris, retina, skin, and hair, and protects all of these structures from the action of ultraviolet rays. The regulation of melanin production involves specific genes; a mutation in these genes can induce the appearance of albinism.(1)
Are There Any Exercises For Ocular Albinism?
Is there any specific exercise to help improve the condition? There are some specific exercises to reduce some symptoms of ocular albinism such as the lazy eye or squint.
However, it is always advisable to contact an ophthalmologist before deciding on any type of exercise schedule for eyes with ocular albinism. If children are diagnosed with lazy eyes, a patch can be put on healthy eyes to encourage the other affected eye to work harder and benefit them.(4)
In order for normal vision development to occur at the start of life, the eye must behave like a camera. It needs:
- A dark room (vitreous cavity of the eye or camera body)
- At the bottom of which is located the sensory tissue (the retina of the eye or the film of the camera)
- This darkroom is opened forward towards the light by a diaphragm (iris of the eye or diaphragm of the camera).
To create a real “darkroom”, the internal part of the eyeball is lined with a tissue called the pigmented epithelium, made of pigmented cells that do not allow light to pass through. Anteriorly, the posterior surface of the iris is also lined with pigmented cells.
Thus, light only enters the eye through the central orifice of the iris called the pupil. The role of this pupil is to measure the amount of light entering the darkroom.
When there is a lot of light (exposure to the sun for example) the pupil tightens (to avoid glare or over-exposure) and when there is little light (a dark room, a closet for example) the pupil expands (to avoid underexposure).
In the case of ocular albinism, there is a deficit in pigmented cells. The eye cannot, therefore, behave like a dark room. There is then a permanent glare, an over-exposure preventing the normal stimulation of the retina and therefore its maturity.(2)
When you look at an albino eye you will notice a translucent blue iris, which in backlighting appears red with a little pigmented retina.
Ocular Albinism: Causes And Symptoms
This lack of pigmentation leading to a deficit in the development of the visual system can be accompanied by other signs of poor vision, in particular, nystagmus, strabismus which can be revealing in forms of an incomplete albinism.
Ocular albinism is generally quickly noticed at birth. When the diagnosis is suspected, an ophthalmological assessment is required as well as a genetic assessment. It is necessary to determine the type of albinism the patient has.
Although there is no treatment for this disorder, special monitoring is necessary on a daily basis. Because of the melanin deficit, albino people are very sensitive to the sun rays, so protection is essential. It is also necessary to correct the visual problems associated with this pathology (astigmatism, hyperopia, myopia, nystagmus, strabismus, etc.).
For the symptoms developed in ocular albinism, some of the appropriate treatments are:
- Optical defects – myopia, hyperopia, astigmatism – are compensated for by wearing corrective lenses and/or contact lenses.
- Photophobia is reduced by wearing tinted glasses.
- Nystagmus and strabismus require treatment as early as possible by an ophthalmologist specializing in strabology.
- Visually impairment can be addressed with optical aids and suitable support.
- Dermatological surveillance and effective sun prevention are necessary throughout life.
- More specific treatments to restore the synthesis of good quality melanin and in sufficient quantity are being studied in mice.
- There is currently no gene therapy.(3)
- Kubasch A, Meurer M. Oculocutaneous and ocular albinism. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 2017;68(11):867-875.
- Yan N, Liao X, Cai S-p, et al. A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. PLoS One. 2012;7(8).
- Hertle RW. Albinism: particular attention to the ocular motor system. Middle East African journal of ophthalmology. 2013;20(3):248.
- Sun L, Wang Z, Wu H, et al. Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. Pesticide biochemistry and physiology. 2016;126:35-41.
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