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albinism [2026/09/08 14:50] – [Relative Frequency] Scott Larsonalbinism [2026/09/08 14:55] (current) – [Relative Frequency Estimates] Scott Larson
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 ====Relative Frequency Estimates==== ====Relative Frequency Estimates====
 ^Type ^Gene ^Share of albinism cases worldwide ^Estimated prevalence ^Notable population patterns^ ^Type ^Gene ^Share of albinism cases worldwide ^Estimated prevalence ^Notable population patterns^
-|OCA1| TYR| 50% (most common in Caucasians) |1:40,000 globally |Most common subtype in Europeans and Japanese (1/3 of Japanese OCA)| +|OCA1| TYR| 48% (most common in Caucasians) |1:40,000 globally |Most common subtype in Europeans and Japanese (1/3 of Japanese OCA)| 
-|OCA2| OCA2| 30% (most common form overall, driven by Africa) |1:37,000–40,000 (Caucasians); 1:10,000 (sub-Saharan Africa), up to 1:1,000 / 1:227 in isolates |Most common subtype in Africa; high rates in some Native American groups (e.g., Hopi)| +|OCA2| OCA2| 30% (most common in Africa) may be the most common world wide but the literature skews in favor of studies of predominately Caucasian patients |1:37,000–40,000 (Caucasians); 1:10,000 (sub-Saharan Africa), up to 1:1,000 / 1:227 in isolates |Most common subtype in Africa; high rates in some Native American groups (e.g., Hopi)| 
-|OCA3| TYRP1 | 3% |1:8,500 in southern Africa; nearly absent in Caucasians/Asians |Largely restricted to African populations| +|OCA3| TYRP1 |3%|1:8,500 in southern Africa; nearly absent in Caucasians/Asians |Largely restricted to African populations| 
-|OCA4| SLC45A2| 17% |1:85,000 in Japan Most common type in Japan (25% of Japanese OCA); 5–8% of German cases|+|OCA4| SLC45A2|17%|1:85,000 in Japan Most common type in Japan (25% of Japanese OCA); 5–8% of German cases|
 |OCA5–8| 4q24 locus, SLC24A5, LRMDA, DCT|Rare / not well defined |Not well established |Individually rare; prevalence poorly characterized| |OCA5–8| 4q24 locus, SLC24A5, LRMDA, DCT|Rare / not well defined |Not well established |Individually rare; prevalence poorly characterized|
 |Ocular albinism (OA1)| GPR143 (X-linked)| 7% of molecularly diagnosed albinism series| 1:50,000-60,000 males |Primarily affects males| |Ocular albinism (OA1)| GPR143 (X-linked)| 7% of molecularly diagnosed albinism series| 1:50,000-60,000 males |Primarily affects males|