Oculocutaneous Albinism

The O’Donnell family is concerned that if they start a family, they may have a child with albinism. Albinism is a hereditary disorder, usually transmitted as an autosomal recessive trait, in which there is partial or total absence of pigment in the skin, hair, and eyes (oculocutaneous albinism) or in the eyes alone (ocular albinism), caused by defective or absent function of the enzyme tyrosinase. The most common form of albinism is known as oculocutaneous albinism. In more severe cases, the skin, hair, and eyes will remain a white color throughout life, but in less severe cases, the color may darken as one ages. Everyone with this type of albinism will experience abnormal flickering eye movements and sensitivity to bright light. Other eye …show more content…
If any of these are left untreated, this could put one’s life in danger. People with albinism may have more limited number of activities they can be involved in due to the sun, but this condition will not shorten their lifespan. In many cases of albinism, people have very poor eyesight which can cause them to have problems with depth perception,especially at close distances and can give them the appearance of having "crossed eyes" at times. There is also chance of them have nystagmus (constant involuntary movement of the eyeball) and/or strabismus (problems in coordinating the eyes in fixing and tracking objects). Since they have an absence of pigment in the skin, hair, and eyes, they are prone to sunburns and premature skin aging because of their sensitivity to light, especially to the …show more content…
Since Mr. O’Donnell genotype is unknown to us at the moment, there is a 100% chance that their child will have albinism if he has the disorder, but if he doesn’t have the disorder and he is a homozygous, then there is a 100% chance that their child won’t have the disorder. If Mr. O’Donnell happens to be a heterozygote, then they have a 50% chance of having a child with albinism, but no matter what genotype he is, his children will either have the disorder or be carriers of it since Mrs. O’Donnell has the disorder. I don’t think this should scare them though even if Mr. O’Donnell has it because albinism doesn’t compromise one’s way of living. This disorder isn’t life threatening and won’t force one to live differently from everyone else. They may have to take some minor precautions to protect their eyes and skin but other than that, they will be able to live a normal life. I don’t believe this disorder should be the reason Mr. and Mrs. O’Donnell don’t have a child since this condition usually only creates minor health