Albinism
What is it?
Albinism is a group of genetic disorders where there is little or no production of the pigment melanin. The amount of melanin produced in the body defines the color of the skin, eyes, and hair. Melanin has an important role in optic nerve development. There are several types of albinism; Oculocutaneous albinism (OCA) includes several subtypes and affects skin, hair, and eyes. OCA1a doesn’t produce any melanin and has white hair, very pale skin, and light eyes. OCA1b produces some melanin, and their coloring may increase with age. OCA2 is less severe. OCA3 usually affects people with dark skin, particularly Black South Africans. People with OCA3 have reddish-brown skin, reddish hair, and hazel or brown eyes. OCA4 is more common in East Asia and is similar to OCA2. Ocular albinism is due to a mutation on chromosome X, therefore almost only males are affected. These people have no coloring of the eye’s retina.
Additional names
This group contains additional names:
- 4-Hydroxyphenylpyruvate dioxygenase deficiency
- Aland eye disease and ocular albinism
- Alcaptonuric ochronosis
- Alkaptonuria
- Aromatic amino acid metabolism disorder
- Disorder of tryptophan metabolism
- Fumarylacetoacetase deficiency
- Glutaryl-CoA oxidase deficiency
- Hereditary hypertyrosinemia
- Hermansky Pudlak syndrome
- Homogentisate 1,2-dioxygenase deficiency
- Hydroxykynureninuria
- Hypopigmentation-immunodeficiency disease
- Indicanuria
- Klein-Waardenberg's syndrome
- Kynureninase deficiency
- Ochronosis
- Tyrosinuria
- Tyrosinosis
- Waardenburgs syndrome
- Woolf's syndrome
- Ziprkowski-Margolis syndrome
Signs & symptoms
Albinism symptoms may include absence of color in the hair, skin, or eyes, lighter than normal coloring of the hair, skin, or eyes, patches of skin that have an absence of color, visual problems such as strabismus, photophobia, nystagmus, impaired vision or blindness and astigmatism.
Diagnosis
Albinism is diagnosed through genetic tests that detect mutations in the genes that are related to melanin production or distribution. It can be suspected in a physical examination. Also, an electroretinogram test that measures the response of the light-sensitive cells in the eyes can be performed.
Treatment
Albinism has no cure and the emphasis is on preventing sun damage. They must always wear sunglasses, protective clothing and sunscreen. If there are visual problems, they can be corrected with eyeglasses or surgery if necessary.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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