Abstract：
Oculocutaneous albinism (OCA) is a genetic disease caused by disorders in melanin synthesis or distribution. In this descriptive study conducted in a tertiary care pediatric hospital, patients with a clinical diagnosis of OCA and genetic study were retrospectively recruited and underwent dermatological and ophthalmological exam, including optical coherence tomography (OCT) and digital dermoscopy. Our findings revealed milder OCA phenotypic expression in individuals harboring single pathogenic mutations in conjunction with polymorphisms, as well as in those with mutations of uncertain significance. Regardless OCA subgroup, severe phenotypes of OCA were associated with a higher number of mutations/polymorphisms in melanin biosynthesis genes and paler dermoscopic patterns, such as vascular pattern, which was the most common pattern in our series.
摘要：
眼皮肤白化病（OCA）是由黑色素合成或分布障碍引起的遗传性疾病。在三级保健儿科医院进行的这项描述性研究中，回顾性招募了临床诊断为OCA和遗传学研究的患者，并进行了皮肤病学和眼科检查，包括光学相干断层扫描（OCT）和数字皮肤镜。我们的发现揭示了在具有单致病性突变和多态性的个体中更温和的OCA表型表达。以及那些具有不确定意义的突变的人。无论OCA子组如何,OCA的严重表型与黑色素生物合成基因中更多的突变/多态性和浅色皮肤模式相关。比如血管模式，这是我们系列中最常见的模式。
