Phenotype i Associated with Congenital Cataract in Japanese

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Abstract
A Japanese family with two siblings of phenotype i is presented. Both had a past history of surgical treatment for congenita] cataract. In Japan, 18 individuals of phenotype i, including our case, have been found in ten unrelated families. Seventeen of them had congenital cataract. Cataract was not found in any of the 45 phenotype I members in these families. It is briefly discussed why these two linked and quite rare genes were found in combination only in Japanese persons.