In albinism, a number of different chromosomes are involved, depending upon the type. There are two major classes of albinism, namely; Oculocutaneous albinism and Ocular albinism. Oculocutaneous albinism affects the eyes, hair and skin, whereas only the eyes are affected in Ocular albinism.
Approximately one in seventeen thousand (17,000) persons worldwide has one of the types of albinism. It is noteworthy that, albinism can affect any race and has been extensively studied in other animal species like mouse.
Visual plights are a significant feature of albinism. In albinism condition, Melanin is reduced or could be totally absent in the eye, skin, hair as well as the brain, thereby causing maldevelopment of neural pathways related to vision. Abnormalities in cone morphology have also been detected in the fovea. More so, severe nystagmus, photophobia, strabismus, and reduced visual acuity are common features.
The precise appearance of an albino depends on which syndrome or condition is involved. Medical analysts are of the view that people with albinism have red eyes, but the colour of the iris varies from a dull grey to blue or even brown. In albinism condition, a brown iris is common among ethnic groups with darker pigmentation.
Under certain lighting conditions, there is a reddish or violet hue that reflects through the iris from the retina and the eyes then appear red, similar to the red eye in flash photography. In some types of albinism, the red colour can reflect back through the iris as well as the pupil.
Diagnosis is based on careful history of pigment development and an examination of the skin, hair and eyes. The only type of albinism that has white hair at birth is the OCA1. The most accurate test for determining the specific type of albinism is a genetic test, though the test is useful only for families that have individuals with albinism. Hence it cannot be performed practically as a screening test for the general population.
None of the available tests is capable of detecting all the mutations of the genes that cause albinism. And, responsible mutations cannot be detected in a small number of individuals and families with albinism. Optical coherence tomography can be a useful adjunct in cases of OCA, which display atypical features.
Ophthalmologists and optometrists can help people living with albinism to compensate for their eye problems but they cannot be cured. Astigmatism is the most common eye problem across all the subtypes of albinism, whilst there is a high frequency of hypermetropia in OCA1A patients. However, ordinary glasses or bifocals with a strong reading correction may serve well for many people with albinism.
For photophobia, dark glasses or photo-chromic lenses are recommendable. There is no proof that dark glasses will improve vision even when used at a very early age, but they may improve comfort. Recent advances include contact lenses with a special iris tint and clear pupil area as well as bi-level telemicroscopes fitted on to patients’ prescription spectacles.
Albinism can be prevented, though could be expensive for low-income families. Gene testing can be used to determine if a foetus has albinism. Amniocentesis is performed at 16 to 18 weeks of gestation.
But, those considering such testing should be aware that, if given proper support, children with albinism can function well despite considerable visual handicap and also enjoy normal lifespan.
June 13, the world over marks the International Albinism Awareness Day. On Wednesday, November 19, 2014, the General Assembly of the United Nations (UN) adopted June 13 each year as the International Albinism Awareness Day via a historic resolution. June 13 was chosen because it was on that day in 2013 that the UN adopted its first ever resolution on albinism.
The UN calls on all stakeholders to use this day to take action that will end discrimination, stigma, intimidation, humiliation, attacks, and what have you, against persons living with albinism worldwide. To this end, we can take action by indulging in the following:
• Inviting a local organisation of persons with albinism to address our respective institutions.
• Creating discussion fora in our workplaces on how we, both individually and collectively, can contribute towards ending the discrimination experienced by persons with albinism through our own belief systems.
• Encouraging our friends, associates, relations, and/or employees, as the case may be, to spend reasonable time with the various societies of persons with albinism in order to assist them in addressing discrimination, among other uncalled treatments.
And finally, but not the least, sponsoring a local radio, television or print media campaign on June 13 to raise awareness about the rights of persons with albinism.
In addition, as the global community marks the first annual International Albinism Awareness Day, there is a pressing need for the law-makers to enact a strict law that would thoroughly address all the challenges being faced by albinos in Nigeria with a view to actualizing a country where fairness and equity are seen as its watchword.
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