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Not all albinos have white hair. There is a type of albinism where the affected person has light yellow hair and the skin color can be the same as a normal North European person.

How can you diagnose this type of albinism in a person who would naturally have very light blonde hair and pale skin, even if they didn't have albinism?

I mean, Boris Johnson isn't an albino, but there are albinos who have exactly the same hair and skin color as him.

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    Commented Apr 7, 2022 at 23:22

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Short answer

Due to the considerable phenotypic overlap of different types of Oculocutaneous Albinism (OCA), molecular testing using a multigene panel or comprehensive genome sequencing is generally preferred for a precise diagnosis and is available for most types of OCA.

Using family tree combined with a clinical assessment can get you close. But a targeted sequencing panel looking for mutations in known genes that cause albinism would be the best way to do this.

More Info

Melanin, a black or brown pigment formed from tyrosine, is responsible for the color of skin and hair. Melanin is synthesized in melanocytes, which are specialized, dendritic secretory cells derived from the neural crest. These cells migrate to the basal layer of the epidermis during embryogenesis. The presence of melanin in the epidermis helps provide protection from ultraviolet radiation.

Disorders include decreased and excessive pigmentation.

Oculocutaneous albinism is a group of rare disorders caused by various gene mutations, but the most well known is the gene encoding tyrosinase, which catalyzes several steps in the production of melanin. Obviously in OCA, you'll have less melanin and this gives people with the disease the characteristic depigmented appearance. The disease is inherited in an autosomal recessive pattern (so both parents must have at least one of the mutated alleles).

Source: "UpToDate.com"

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Typically the eyes are affected.

"Oculocutaneous" albinism affects both eyes and skin. On this page the effects on iris and retina/choroid are illustrated. While I could find a type of albinism in OMIM for which "Nystagmus, photophobia, and marked visual defect were not features", that entry still describes depigmented irides. I have a hard time picturing a variation in which the eyes would have full pigmentation throughout, which would not be described as a skin color variation. (That doesn't mean there isn't one!)

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You could either look at the family history and see if there were any individuals with albinism or contact a gene counsellor. Here is an extract from the healthline website: "The most accurate way to diagnose albinism is through genetic testing to detect defective genes related to albinism." (https://www.healthline.com/health/albinism#symptoms)

I hope this helps!

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