|Gene (OMIM no.)|
|Function of gene/protein|
|Clinical phenotype (with OMIM phenotype no.)|
|Ocular features||The ocular phenotype and visual function are highly variable among individuals affected by OCA2. They may have some/all of the following features:|
|Signs for CSNB|
|Molecular diagnosis||Next generation sequencing|
|Therapies under research|
Type 2 oculocutaneous albinism (OCA2) accounts for 30% of albinism cases worldwide. It is very common among Africans or those of African origin, with an estimated prevalence ranging from around 1 in 10,000 cases among African Americans in the United States to around 1 in 3,900 cases in certain populations in sub-Saharan Africa. This is mainly due to the high frequency of an intragenic 2.7 kilobase deletion which results in the removal of exon 7 in the OCA2 gene in Africa. [10,11]
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