To the Editor: Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a group of mutations related to the regulation of melanin synthesis and melanosome biogenesis. The prevalence of OCA worldwide ...To the Editor: Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a group of mutations related to the regulation of melanin synthesis and melanosome biogenesis. The prevalence of OCA worldwide is approximately 1 in 17,000.[1] Other than symptomatic treatment, there is no effective treatment for albinism. Due to the variability in clinical phenotypes, it is difficult to classify sub-types simply by clinical features;therefore, molecular and genetic analyses are the most reliable methods for confirming diagnosis, carrier screening, and pre-natal diagnosis.展开更多
基金grants from the National Natural Science Foundation of China (No.81472871)High-level Professional Talents of Beijing Healthcare System (No.2015-3-011).
文摘To the Editor: Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a group of mutations related to the regulation of melanin synthesis and melanosome biogenesis. The prevalence of OCA worldwide is approximately 1 in 17,000.[1] Other than symptomatic treatment, there is no effective treatment for albinism. Due to the variability in clinical phenotypes, it is difficult to classify sub-types simply by clinical features;therefore, molecular and genetic analyses are the most reliable methods for confirming diagnosis, carrier screening, and pre-natal diagnosis.
