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Exp Mol Med 48(3): e219, 2016

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Reported incidences for these genes in an international population of patients with albinism are 7% for SLC45A2 , 1% for TYRP1 , and less than 0.5% for SLC24A5 .[86] SLC45A2 is found in 24% of oculocutaneous albinism cases in Japan, making it the most common type of albinism among Japanese individuals with identifiable variants.[87] A study of 22 individuals of Italian ancestry without pathogenic variants in TYR , OCA2 , or TYRP1 found 5 individuals with biallelic variants in SLC45A2 , 4 of whom met clinical criteria for a diagnosis of oculocutaneous albinism.[88] Collectively, more than 600 unique ocular albinismrelated genetic variants have been identified.[89] OCA4 is thought to be similar to other types of albinism, but the increased risk of SCC of the skin in people with these variants has not been quantified

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