Jiménez-Berríos Gabriel A, Vázquez-Folch Sebastián J, Izquierdo Natalio
Department of Ophthalmology, School of Medicine, Universidad Central del Caribe, Bayamón, PRI.
Department of Surgery, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI.
Cureus. 2024 Sep 6;16(9):e68791. doi: 10.7759/cureus.68791. eCollection 2024 Sep.
Previous studies have reported on the cardiovascular, ocular, and musculoskeletal findings in patients with Marfan syndrome (MFS). This study aims to report the ocular and genotypic findings in patients with the syndrome in Puerto Rico.
A chart review of a cohort of patients with the syndrome from Puerto Rico was done. Patients were examined by at least one of the authors (NJI). Fibrillin-1 () full gene sequencing was done to all patients (Laboratory for Molecular Medicine, Center for Genetics and Genomics, Cambridge, MA). This study was approved by the Institutional Review Board of the Universidad Central del Caribe (approval number: 2024-07). Results: Six patients aged 28-79 years were examined. There were seven female and three male patients. The average visual acuity was 0.49 and 0.52 in the right eye (OD) and left eye (OS), respectively. The average refraction (spherical equivalent) was -1.28 sph OD and -1.07 sph OS. The average intraocular pressure was 14 mmHg in both eyes (OU). A patient had a dislocated lens OD; a patient had lens dislocation OU; and a patient had prosthesis OD and aphakia OS. Upon optical coherence tomography (OCT), the retinal nerve fiber layer (RNFL) average was 75.86 µm OD and 81.85 µm OS; the average cup-to-disc (C/D) ratio was 0.41 and 0.35 in the right and left eye, respectively. Upon visual field testing, the average mean deviation (MD) was -6.27 dB OD and -8.55 dB OS.
Our findings underscore the significant phenotypic and genotypic heterogeneity of patients with MFS in Puerto Rico. The identification of several mutations in the gene in the Puerto Rican population demonstrates the need for an up-to-date approach to diagnose and co-manage patients with the syndrome. This study contributes to a deeper understanding of the genetic heritage of patients with the syndrome and highlights the potential for personalized therapeutic interventions.
既往研究报道了马凡综合征（MFS）患者的心血管、眼部和肌肉骨骼方面的表现。本研究旨在报告波多黎各该综合征患者的眼部和基因检测结果。
对一组来自波多黎各的该综合征患者进行病历回顾。患者由至少一位作者（NJI）进行检查。对所有患者进行原纤维蛋白-1（FBN1）全基因测序（马萨诸塞州剑桥市遗传与基因组学中心分子医学实验室）。本研究经加勒比中央大学机构审查委员会批准（批准号：2024-07）。结果：检查了6例年龄在28至79岁之间的患者。其中7例为女性，3例为男性。右眼（OD）和左眼（OS）的平均视力分别为0.49和0.52。平均屈光度（等效球镜）右眼为-1.28球镜，左眼为-1.07球镜。双眼平均眼压均为14 mmHg（OU）。1例患者右眼晶状体脱位；1例患者双眼晶状体脱位；1例患者右眼植入假体且左眼无晶状体。经光学相干断层扫描（OCT）检查，视网膜神经纤维层（RNFL）平均厚度右眼为75.86 µm，左眼为81.85 µm；双眼杯盘比（C/D）平均分别为0.41和0.35。经视野测试，平均平均偏差（MD）右眼为-6.27 dB，左眼为-8.55 dB。
我们的研究结果强调了波多黎各MFS患者显著的表型和基因异质性。在波多黎各人群中FBN1基因发现的多个突变表明，需要采用最新方法来诊断和共同管理该综合征患者。本研究有助于更深入地了解该综合征患者的遗传特征，并突出了个性化治疗干预的潜力。
