Genetic Analysis of Chinese Families with OCA2

In this study, we reviewed the records of OCA2 patients who had conducted albinism genetic testing, and then analyzed the clinical and genetic information of OCA2 patients who had been genetically diagnosed as OCA2 by using Sanger sequencing and next-generation sequencing. Our results were beneficial for diagnosis and precision clinical management for OCA2-related disorder, and this study expanded the mutation spectrum of oculocutaneous albinism.