Jardón Javier, Izquierdo Natalio J, Renta Jessica Y, García-Rodríguez Omar, Cadilla Carmen L
a Ophthalmology Department , School of Medicine, Medical Sciences Campus, University of Puerto Rico , San Juan , Puerto Rico .
b Surgery Department , School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico, & Universidad Central del Caribe, School of Medicine , Bayamón , Puerto Rico .
Ophthalmic Genet. 2016;37(1):89-94. doi: 10.3109/13816810.2014.907920. Epub 2014 Apr 28.
To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3.
This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening. Descriptive and non-parametric statistical analyses were carried out.
Nearly 70% of the patients were homozygous for common Puerto Rican mutations leading to the HPS1 gene (16-BP DUP, 53.6%), while 30% had the 3904-BP DEL HPS3 gene mutation. Best corrected visual acuity (BCVA) was poorer in patients with type 1 HPS than in patients with type 3 HPS (p < 0.001), esotropia was more common among type 1 HPS patients (p < 0.018), while exotropia was more common among patients with type 3 HPS. Total iris transillumination was more common in patients with type 1 HPS and minimal iris transillumination in patients with type 3 HPS (p < 0.001). The maculae were translucent in patients with type 1 HPS, while patients with type 3 HPS had opaque maculae (p < 0.001).
Patients with type 1 HPS had poorer BCVA, increased incidence of esotropia, lighter iris and macular appearance. In contrast, patients with type 3 HPS had more exotropia. In addition, to our knowledge this is the largest series type 3 HPS ever reported.
描述并比较1型和3型Hermansky-Pudlak综合征（HPS）患者的眼部表现。
这是一项回顾性病例系列研究，对1999年至2009年在一家私立眼科门诊接受评估的64例HPS患者进行研究。通过筛查常见突变和DNA筛查的外显子测序，对患者进行了选定的白化病（酪氨酸和P基因）和HPS基因（HPS-1和HPS-3）的基因分析。进行了描述性和非参数统计分析。
近70%的患者为导致HPS1基因的常见波多黎各突变的纯合子（16-BP重复，53.6%），而30%的患者有3904-BP缺失HPS3基因突变。1型HPS患者的最佳矫正视力（BCVA）比3型HPS患者差（p < 0.001），内斜视在1型HPS患者中更常见（p < 0.018），而外斜视在3型HPS患者中更常见。全虹膜透照在1型HPS患者中更常见，而最小虹膜透照在3型HPS患者中更常见（p < 0.001）。1型HPS患者的黄斑是半透明的，而3型HPS患者的黄斑是不透明的（p < 0.001）。
1型HPS患者的BCVA较差，内斜视发生率增加，虹膜和黄斑外观较淡。相比之下，3型HPS患者外斜视更多。此外，据我们所知，这是迄今为止报道的最大的3型HPS系列研究。
