Phenotypic Heterogeneity of Patients With Marfan Syndrome in Puerto Rico: A Case Series.
| Autor: | Jiménez-Berríos GA; Department of Ophthalmology, School of Medicine, Universidad Central del Caribe, Bayamón, PRI., Vázquez-Folch SJ; Department of Ophthalmology, School of Medicine, Universidad Central del Caribe, Bayamón, PRI., Izquierdo N; Department of Surgery, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 Sep 06; Vol. 16 (9), pp. e68791. Date of Electronic Publication: 2024 Sep 06 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.68791 |
| Abstrakt: | Purpose: 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. Patients and Methods: 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 ( FBN1 ) 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. Conclusions: Our findings underscore the significant phenotypic and genotypic heterogeneity of patients with MFS in Puerto Rico. The identification of several mutations in the FBN1 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. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Institutional Review Board of Universidad Central del Caribe issued approval 2024-07. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Jiménez-Berríos et al.) |
| Databáze: | MEDLINE |
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