Does albinism have symptoms other than being white?

Written by Huang Ling Juan
Dermatology
Updated on September 02, 2024
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In addition to light skin, albinism also presents other symptoms. Individuals with albinism usually have white or yellow-white hair that is fine and soft. Their pupils appear red due to the lack of pigment in the choroid, and some might have congenital small pupils. The sclera may be transparent or appear pale red. People with albinism typically experience photophobia, tearing, frequent blinking, nystagmus (eye tremors), and astigmatism. Although most patients are healthy in other body parts, some with albinism may suffer from poor development, short stature, and intellectual disabilities. When albinism affects the eyes, it is accompanied by skin depigmentation, photophobia, and tearing. Excessive exposure to ultraviolet rays can lead to conditions like solar dermatitis, actinic cheilitis (inflammation of the lips), increased wrinkling of the skin, and dilation of capillaries.

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Written by Huang Ling Juan
Dermatology
1min home-news-image

What should be paid attention to in daily life for albinism?

For those with albinism, it is crucial to avoid sunlight exposure, especially during strong ultraviolet radiation. It’s advisable to minimize going outdoors or use sun-protection tools such as wearing long-sleeved clothing, hats, and sunglasses to reduce direct UV damage to the eyes and skin. For patients with a syndromic type of albinism, once a genetic diagnosis is confirmed, it is essential to inform the doctor about the condition when undergoing dental extractions or major surgeries, so that preventive measures against bleeding can be prepared. Furthermore, patients with albinism must seek genetic counseling and reproductive guidance before marriage and childbirth. If skin lesions are mild in the early stages of albinism, proactive cooperation with medical staff and a diet rich in vitamins are recommended.

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Written by Yan Xin Liang
Pediatrics
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What causes albinism in infants?

Albinism in infants is caused by a deficiency or dysfunction of tyrosinase, leading to a lack of melanin or a synthesis disorder in the skin and its appendages. This inherited form of albinism results in the retina lacking pigment, with the iris and pupils appearing pale pink, and sensitivity to light. The skin, mucous membranes, hair, and other body hair are white or yellowish-white. Albinism is a familial hereditary disease, inherited as an autosomal recessive trait, often occurring in populations with a high rate of consanguineous marriages. In the genetic pedigree of albinism, both parents carry the albinism gene; carriers themselves do not show symptoms but can pass the causative gene to their children, who then manifest the disease.

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Written by Zhang Yin Xing
Obstetrics
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How should pregnant women screen for albinism?

Prenatal screening for albinism primarily involves chromosomal testing during pregnancy. Albinism is a single-gene hereditary disease caused by a defect in a single gene. It mainly occurs in children of consanguineous marriages where both parents carry the albinism gene. This is not a routine prenatal screening; it is only conducted if there has been a case of albinism in the family. Fetal chromosomal examination generally takes place between the 16th to 24th weeks of pregnancy during amniocentesis, where fetal cells are collected to conduct genetic testing to determine if the fetus carries the albinism gene.

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Written by Huang Ling Juan
Dermatology
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Does albinism have anything to do with blood type?

Albinism is not related to blood type; it is related to genetics. Albinism is a skin and appendage disorder caused by a deficiency or reduced function of tyrosinase. It is somewhat related to hereditary factors, and also to the lack or synthesis obstruction of melanin. If both parents pass the pathogenic gene they carry to their children, then the children may develop this type of albinism. Ocular albinism is usually an X-linked recessive genetic disorder, mainly transmitted from mothers carrying the albinism gene to their sons, leading to the onset of the disease. Albinism is not directly related to blood type. If albinism occurs, it is advisable to consult and treat at a hospital, and to take preventive measures against the disease before pregnancy.

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Written by Huang Ling Juan
Dermatology
1min 5sec home-news-image

Does albinism have symptoms other than being white?

In addition to light skin, albinism also presents other symptoms. Individuals with albinism usually have white or yellow-white hair that is fine and soft. Their pupils appear red due to the lack of pigment in the choroid, and some might have congenital small pupils. The sclera may be transparent or appear pale red. People with albinism typically experience photophobia, tearing, frequent blinking, nystagmus (eye tremors), and astigmatism. Although most patients are healthy in other body parts, some with albinism may suffer from poor development, short stature, and intellectual disabilities. When albinism affects the eyes, it is accompanied by skin depigmentation, photophobia, and tearing. Excessive exposure to ultraviolet rays can lead to conditions like solar dermatitis, actinic cheilitis (inflammation of the lips), increased wrinkling of the skin, and dilation of capillaries.