What is albinism?
Albinism is an inherited condition present at birth, characterized by a reduced or lack of pigment that normally gives color to the skin, hair, and eyes.
Are there different types of albinism?
These disorders are generally divided into two types. Oculocutaneous Albinism or OCA and Ocular Albinism. OCA involves decreased pigment in the eyes, hair, and skin. There are 4 types of OCA that have been described depending on the type of genetic defect. Ocular albinism involves primarily the eyes, while the skin and hair show normal or near-normal colouration.
What causes albinism?
Albinism is passed from parents to their children through genes. For most types of albinism, both parents must carry an albinism gene to have a child with albinism. Parents may have normal pigmentation but still carry the gene. When both parents carry the gene, and neither parent has albinism, there is a one-in-four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance.
What are the abnormal eye findings of albinism?
Nystagmus: shaking of eyes
Head turn or tilt
Squint
Photophobia: sensitivity to bright light and glare
Refractive Errors (Glasses power)
Foveal hypoplasia
How is Albinism Treated?
Albinism is a lifelong condition that does not worsen with time. Although there is no way to treat poor or absent pigment production or correct abnormal vision development, proper eye evaluation and management can be useful. Eye misalignment can be treated with glasses or surgery. Glasses can be prescribed to improve vision and reduce light sensitivity. Magnifying glasses for reading and low vision aids for distance vision can also be helpful. Genetic counseling of affected individuals and their families is recommended.
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