Jiménez-Berríos Gabriel A, Vázquez-Folch Sebastián J, Izquierdo Natalio
School of Medicine, Universidad Central del Caribe, Bayamón, PRI.
Department of Ophthalmology, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI.
Cureus. 2025 May 8;17(5):e83729. doi: 10.7759/cureus.83729. eCollection 2025 May.
Background Patients with Hermansky-Pudlak syndrome (HPS) typically present with a triad comprising tyrosinase-positive oculocutaneous albinism, a tendency to bleed easily, and ceroid accumulation in multiple tissues. Ocular findings in patients with HPS include poor vision, refractive errors, photophobia, periodic alternating nystagmus, iris transillumination, foveal hypoplasia, and albinotic mid-peripheral retina. Among these, foveal hypoplasia and reduced foveal thickness are key structural abnormalities contributing to impaired visual acuity. While HPS is rare worldwide, its prevalence in Puerto Rico is notably high due to founder mutations in and , which account for most cases on the island. Methodology A retrospective chart review of 106 Puerto Rican patients with HPS was performed to evaluate differences in ophthalmic findings among patients with HPS subtypes. A comprehensive ophthalmic evaluation, including macular optical coherence tomography, was conducted to assess macular structure and foveal thickness. Genetic testing identified (16-bp duplication) and (3,904-bp deletion) mutations, leading to HPS-1 and HPS-3, respectively, the most prevalent in Puerto Rico. Descriptive and statistical analyses were used to evaluate genotype-phenotype correlations. The main outcome measures, including visual acuity, refractive error, macular volume, and macular thickness, were measured and compared between HPS-1 and HPS-3 patients. Results Among 107 patients, 72.9% had HPS-1, and 26.2% had HPS-3. HPS-3 patients had significantly better visual acuity than HPS-1 (p < 0.005). There were no significant differences between subtypes in refractive error, macular volume, or macular thickness. Conclusions HPS remains underdiagnosed, particularly outside Puerto Rico. HPS-1 is the most prevalent subtype, followed by HPS-3. This study identified a significant difference in visual acuity between subtypes. Early ophthalmic evaluation and genetic screening are essential for timely diagnosis and management.
背景 赫尔曼斯基-普德拉克综合征（HPS）患者通常表现为三联征，包括酪氨酸酶阳性的眼皮肤白化病、容易出血的倾向以及多种组织中的类蜡质蓄积。HPS患者的眼部表现包括视力差、屈光不正、畏光、周期性交替性眼球震颤、虹膜透照、黄斑发育不全以及白化病性中周部视网膜。其中，黄斑发育不全和黄斑厚度降低是导致视力受损的关键结构异常。虽然HPS在全球范围内都很罕见，但由于该岛大多数病例中的奠基者突变，其在波多黎各的患病率显著较高。方法 对106例波多黎各HPS患者进行回顾性病历审查，以评估HPS各亚型患者眼部表现的差异。进行了包括黄斑光学相干断层扫描在内的全面眼科评估，以评估黄斑结构和黄斑厚度。基因检测确定了（16-bp重复）和（3904-bp缺失）突变，分别导致HPS-1和HPS-3，这是波多黎各最常见的类型。采用描述性分析和统计分析来评估基因型-表型相关性。测量并比较了HPS-1和HPS-3患者的主要结局指标，包括视力、屈光不正、黄斑体积和黄斑厚度。结果 在107例患者中，72.9%患有HPS-1，26.2%患有HPS-3。HPS-3患者的视力明显优于HPS-1患者（p < 0.005）。各亚型在屈光不正、黄斑体积或黄斑厚度方面无显著差异。结论 HPS仍未得到充分诊断，尤其是在波多黎各以外的地区。HPS-1是最常见的亚型，其次是HPS-3。本研究发现各亚型在视力方面存在显著差异。早期眼科评估和基因筛查对于及时诊断和管理至关重要。
