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albinism [2025/10/29 13:58] – Scott Larsonalbinism [2026/09/08 14:55] (current) – [Relative Frequency Estimates] Scott Larson
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       * female carriers have mosaic pigmentation of peripheral fundus       * female carriers have mosaic pigmentation of peripheral fundus
     * OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600,     * OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600,
-    * OA3: Autosomal recessive: OMIM: 203310 (6q13-q15) or (15q11.2-q12) +    * OA3: Autosomal recessive. [[https://omim.org/entry/203200 | OMIM reference]] (6q13-q15) or (15q11.2-q12) 
-    * OA with sensorineural deafness: OMIM: 103470 (11q14-q21, 3p14.1-p12.3) +    * OA with sensorineural deafness: [[https://www.omim.org/entry/193510 |OMIM reference]] (11q14-q21, 3p14.1-p12.3) 
-      * Waardenberg Syndrome type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene+      * [[waardenburg_syndrome|Waardenburg Syndrome]] type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene
  
 +====Relative Frequency Estimates====
 +^Type ^Gene ^Share of albinism cases worldwide ^Estimated prevalence ^Notable population patterns^
 +|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 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|
 +|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|
 +|Ocular albinism (OA1)| GPR143 (X-linked)| 7% of molecularly diagnosed albinism series| 1:50,000-60,000 males |Primarily affects males|
 ==== Other Findings ==== ==== Other Findings ====
   * OCA1A: No pigment of hair or skin, coarse rough skin, unpigmented nevi, solar keratoses (premalignant) basal cell or squamous cell carcinomas (actually quite rare due to good prevention), skin melanocytes are present but melanoma rare   * OCA1A: No pigment of hair or skin, coarse rough skin, unpigmented nevi, solar keratoses (premalignant) basal cell or squamous cell carcinomas (actually quite rare due to good prevention), skin melanocytes are present but melanoma rare