Diagnosis of Marfan Syndrome Following Progressive Myopia and Secondary Lens-Induced Angle Closure Crisis.
| Autor: | Fazio N; Ophthalmology, Renaissance School of Medicine, Stony Brook, USA., White E; Ophthalmology, Renaissance School of Medicine, Stony Brook, USA., Galenchik-Chan A; Ophthalmology, Renaissance School of Medicine, Stony Brook, USA., Langman L; Ophthalmology, Renaissance School of Medicine, Stony Brook, USA., Cossari A; Ophthalmology, Village Eye Care, Port Jefferson, USA., Honkanen R; Ophthalmology, Stony Brook Hospital, Stony Brook, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 Jun 09; Vol. 16 (6), pp. e62005. Date of Electronic Publication: 2024 Jun 09 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.62005 |
| Abstrakt: | Marfan syndrome (MFS) is a well-described genetic connective tissue disease that heightens the risk of cardiovascular, ocular, pulmonary, and other emergencies in affected individuals. The wide range of phenotypic presentations, spanning from mild, chronic, and asymptomatic to acute and life-threatening, can pose challenges in diagnosing MFS when disease manifestations are subtle. We report a pathogenetic variant of MFS characterized by subtle systemic findings that was identified only after the patient presented with visual changes and pain associated with angle closure, despite a medical history indicating other pathologies linked to this condition. This case underscores the importance of recognizing the varied and sometimes subtle clinical features of MFS. Vigilance in identifying the constellation of findings associated with MFS can enhance its diagnosis and treatment outcomes by enabling appropriate and timely referrals for prophylactic evaluation and care to address potentially life-threatening complications. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. 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, Fazio et al.) |
| Databáze: | MEDLINE |
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