Albinism And The Eye By Dr Ayuba

Albinism is a genetic anomaly characterized by reduced formation of the pigment called melanin of the skin, leading to a more pale looking skin. Albinism is a hereditary disorder characterized by reduced pigmentation of the skin, hair and or the eyes. This is due to a defect in the formation of an amino acid that codes for the formation of the melanin pigment,(tyrosinase). The absence of this pigment causes maldevelopment of the visual system and the retina itself.

Albinism can be broadly classified into 3 types, which include

  1. Ocular albinism
  2. Cutaneous albinism
  3. Oculo-cutaneous albinism
  4. For the sake of this article we will basically be talking on how this condition affect vision, and how best to remedy the situation in other to archieve  both visual and socio economic efficiency.

Epidemiology of albinism

The prevalence of all forms of albinism varies with estimates at approximately 1 in 17000, this therefore suggest that 1 in every 70 persons carry a gene for albinism in onr form or the other

Predisposing factors

The only predisposing factor of albinism in any form is genetics.

Ocular complications of albinism

Ocular albinism (OA),is characterized as a group of genetic disorders presenting with reduced pigmentation only of the eye in association with decreased visual acuity, nystagmus, strabismus and photophobia, in the setting in which pigmentation of the skin and the hair is normal.

Causes of compromised vision in people with albinism(ocular albinism

Since the fovea region contains the highest cell density in the human retina, a large area of the visual cortex is dedicated to its representation. In cases of both aniridia and albinism, the fovea does not properly develop, causing its corresponding cortical representations to be reduced. Analysis reveals that regionally specific decreases in grey matter at the occipital poles in patients with albinism corresponds to the cortical representation of the central visual field and correlates to most of the compromises in visual function. Patients with albinism have additional chiasma irregularities and alterations in the hemispheric projections. Misrouting of the fibers at the optic chiasm, where the majority of fibers cross to the contralateral side, produces an abnormal decussating pattern. This reflects the disturbance within the retina controlled in part by the dysfunction of melanin metabolism. This also is the predominant reason most of these patients lack true binocularity and often present with some strabismus.

Signs and symptoms of ocular  albinism include

  1. Nystagmus(uncontrolled shaking of the eyes)
  2. Strabismus(misalignment between the two eyes)
  3. Iris hypo-pigmentation
  4. Reduced fovea volume
  5. Macular hypoplasia
  6. Photophobia


The first thing to do is to make yourself available at the eye clinic for intensive examination, and subsequently be given the best treatment available, and it is very important that the ocular complications are managed so as to improve visual and social efficiency.

We at CENTRE FOR SIGHT AFRICA, is well equipped to diagnose any form of this complication associated with albinism and prescribe appropriate management plan for effective visual function.

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