Albinism is an inherited genetic disorder that affects the way the body produces or distributes melanin, the pigment that gives color to the skin, hair, and eyes. Albinism is a congenital condition and people who suffer from it can have very fair skin, white hair, and pink eye, as well as vision problems.
There are different types of albinism. Ocular albinism is one of them and is characterized by its manifestation in the eyes.
Ocular albinism is the type of albinism that affects only the eyes, especially the cornea and retina. People with ocular albinism have uniform skin and hair color, however, their eyes are colorless (retina) and their eyelashes are usually white. Ocular albinism can cause nystagmus, photophobia and decreased visual acuity.(1)
How Long Will It Take To Recover From Ocular Albinism & How Long Does The Symptoms Last?
The first thing to keep in mind is that albinism is a chronic process for which there is no specific treatment. This means that the low production of pigment or the abnormal development of central vision cannot be corrected. However, certain therapies and surgeries can help improve the vision of people with ocular albinism.
As for the skin, hair, and eyes, it is very important to protect them from the sun by the use of sun-screen creams and sunglasses. For vision problems, other measures can be taken. These include the use of glasses to help correct vision defects occurring due to ocular albinism.
Adaptive glasses with special filters can improve vision and reduce sensitivity to light or photophobia. The use of sunglasses to avoid exposure to ultraviolet rays is mandatory and of great importance to protect the eyes from the sun and avoid major complications.
The use of colored lenses also helps to treat sensitivity to light and is recommended if the person is present with. anisometropia, which is the difference in the graduation of more than three diopters in both eyes.
When albinism is the cause of strabismus, it is possible to evaluate the option of a surgical intervention to improve the appearance of the eyes.
In conclusion, ocular albinism can affect visual health in different ways and only the ophthalmologist can determine the appropriate treatment to treat the symptoms of each patient.(1)
Causes Of Ocular Albinism
- Hereditary factor is the main cause of albinism, that is to say, this condition is transmitted from parents to children. It is caused by alterations or mutations that affect the OA1 gene, located on the X chromosome.
- This gene is a membrane-associated melanosome protein (responsible for pigmentation), the abnormal functioning of which produces a cluster of extremely large melanosomes in the cell. This anomaly occurs only in men and in those who inherit the gene through the surrogate mother.
- A pregnant woman carrying the gene has a 50% chance that the male child will be born with ocular albinism.
- Women with the AO1 gene may have discoloration behind the eye, but they are not diagnosed with ocular albino because they do not have vision problems.
When both parents carry the gene, a type of albinism called autosomal albinism can occur. In this case, the probability that the child was born with autosomal albinism is 25% and may affect men and women equally.(2)
Ocular Albinism Symptoms
The common symptoms can be the physical appearance and/or issues with the vision.
Symptoms related to physical appearance are:
- Colorless skin patches
- The skin and hair are lighter in color than usual
- Lack of color in the hair, on the skin or in the eye iris
The first symptom that identifies an albino eye is white eyelashes, however, there are cases of ocular albinism where the patient has the dark-colored iris.
Other symptoms include:
- Lack of visual acuity and limited night vision
- The stereoscopic vision may be limited or reduced
- Nystagmus, which is an involuntary movement of the eyes, mostly horizontal. The movement may be imperceptible to others. In people with ocular albinism, the brain gets used to this movement and vision is static.
If there is a decrease in binocular vision Strabismus may occur, which can cause the person to use their eyes separately or to make movements with a lack of coordination.
- Functional blindness
- Light sensitivity
- Rapid eye movements (nystagmus)
Ocular Albinism Diagnosis
There are cases where the doctor can detect albinism by visible signs such as hair or skin. However, genetic testing is the best way to diagnose ocular albinism.
With regard to vision, the ophthalmologist can perform electroretinography, an examination which consists of measuring the electrical response of the cells of the eye to light.
There are also special tests on hair, skin or blood that can be used to make specific diagnoses.(4)
- 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).
- Mártinez‐García M, Montoliu L. Albinism in E urope. The Journal of dermatology. 2013;40(5):319-324.
- Prasad C, Rupar CA, Campbell C, et al. Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. Canadian Journal of Neurological Sciences. 2014;41(5):626-631.
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