Abstract
In 1908, Archibald Garrod, an English physician, included albinism in his ‘Inborn errors of metabolism’; proposing later in 1923 that albinism was a disorder of an enzyme involved in the synthesis or maintenance of the molecule melanin. Garrod’s work was controversial at the time prior to the acceptance of Mendelian inheritance. However, it was later confirmed in oculocutaneous albinism OCA1A (see section ‘Non-syndromic OCA’) that the tyrosinase enzyme was found to be defective (Scriver 2008).
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Abbreviations
- CHS:
-
Chédiak–Higashi syndrome
- HPS:
-
Hermansky–Pudlak syndrome
- L-DOPA:
-
L-3-4-dihydroxyphenylalanine
- OA:
-
Ocular albinism
- OCA:
-
Oculocutaneous albinism
- UV:
-
Ultraviolet
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Choi, J., Bossuyt, A. (2020). Albinism. In: Cheung, G. (eds) Hereditary Chorioretinal Disorders. Retina Atlas. Springer, Singapore. https://doi.org/10.1007/978-981-15-0414-3_11
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