Marfan syndrome and related ophthalmological disorders

Relevance Marfan syndrome is a hereditary systemic connective tissue disorder that affects several organs and systems, including the cardiovascular, musculoskeletal, and visual systems. Ophthalmological manifestations play an important role in the early diagnosis of the disease and can significantly reduce the quality of life of patients [1–4]. Objective To determine the ophthalmological features of Marfan syndrome, identify the most common and significant ocular changes, and assess their impact on visual functions in order to improve the diagnosis, prevention, and treatment of this pathology. Material and methods Two groups were formed, comparable in terms of the anteroposterior axis (APA) size and age: the main group - 19 patients (38 eyes) with a verified diagnosis of Marfan syndrome, the control group - 24 patients (48 eyes) with varying degrees of myopia. In addition, the results obtained in Marfan syndrome were analyzed depending on the absence or presence of signs of ectopia lentis. In addition to determining the basic ophthalmological parameters (type and degree of clinical refraction, size of the axial length, maximum corrected visual acuity), topographic keratometry, optical coherence tomography of the anterior segment of the eye and bidirectional pneumoapplanation of the cornea were used for the structural and functional assessment of the state of the fibrous membrane. Results A statistically significant increase in the radius of curvature and a decrease in corneal refraction in the central zone were noted compared to similar parameters in the control group. There were no significant differences in the values ​​of the central corneal thickness, while a reliable decrease in the thickness of the sclera in the limbal zone was noted compared to a similar parameter in the control group. No statistically significant changes in corneal hysteresis and corneal resistance factor were observed in Marfan syndrome. Conclusion Previously obtained data on the reliable tendency of the cornea to decrease optical power were confirmed. No clear patterns of dependence of the changes in the fibrous membrane analyzed in this study on the presence or absence of ectopia lentis were revealed. Keywords: lens dislocation; high myopia; megalocornea; iridodonesis