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Oculocutaneous albinism is a genetic condition characterized by impaired melanin production. Individuals with oculocutaneous albinism have distinctly light pigmentation of the eyes, hair and skin. Sensitive to natural sunlight, those with oculocutaneous albinism often endure social scrutiny because of their fair appearance. There is no established treatment. Proactive measures may be taken to protect one’s skin, and medical procedures may be necessary to reduce the effects of impaired muscle development that compromises vision.
A complete evaluation, including a comprehensive medical history, is necessary to diagnose oculocutaneous albinism. It is essential to establish when signs of pigmentation loss started in order to measure the condition's type and severity. Since the albinism is known to adversely affect one’s vision and eye health, a comprehensive eye exam may also be performed. The examination is administered to detect abnormalities within the inner eye that may contribute to involuntary movements and vision impairment.
Belonging to the family of autosomal recessive disorders, oculocutaneous albinism occurs when gene mutation impairs melanin production. It only takes a single gene mutation to trigger symptom onset. In order for this form of albinism to present, the chromosomal mutation must be passed to the individual by both parents; if inherited from one parent, the individual will remain asymptomatic and a carrier. Depending on the mutation, there are four degrees of oculocutaneous albinism that may present, ranging from one to four in severity, with the first being most pronounced.
Individuals with albinism will demonstrate patterned signs that are easily recognizable. The degree of pigmentation loss will dictate the fairness of one’s complexion. If melanin production is intermittent, the individual may exhibit subtle variances in skin tone. Often hair and eyes are extremely light to the point of appearing to possess nearly no color at all. Pronounced vision impairment is the one symptom of oculocutaneous albinism that can present routine issues necessitating regular eye exams.
Abnormal eye development, marked by nerve and retinal dysfunction, contributes to the impaired transmission of sensory signals and associated image distortion. The brain's misinterpretation of nerve signals results in muscle spasms that force the eye to lose focus or wander of its own accord. Additional signs of impaired vision may include light sensitivity, an inability to focus, and pronounced far- or nearsightedness.
Those with albinism usually must take precautionary measures to protect their skin and eyes. Any degree of albinism increases one’s risk for skin cancer; therefore, limiting sun exposure is essential to reducing one’s chance for sunburn. Prescription glasses with tinted lenses are frequently worn to help improve and protect one’s vision. Surgery may be recommended to ease accentuated presentations of muscle-related eye disorders, such as strabismus, which impairs vision, and nystagmus, which causes involuntary eye movement.