[Structural and functional features of the eye in Marfan syndrome. Report 1. Changes in the fibrous tunic of the eye].

Abstract

Marfan syndrome (MS) is an orphan hereditary connective tissue disease associated with a mutation in the FBN1 gene, which pathological manifestations are characterized by polysystemic involvement. The fibrillin-1 protein is an integral component of the sclera and cornea of the eye, and in MS its structure is distrubed.

Purpose: This study assesses potential structural and functional changes in the cornea and sclera of a patient with MS.

Material and methods: Two groups were formed, comparable in the axial length of the eye and age: the main group - 19 patients (38 eyes) with a verified diagnosis of MS, and the control group - 24 patients (48 eyes) with myopia of varying degrees. The results obtained from MS patients were analyzed depending on the absence or presence of ectopia lentis. In addition to measuring the basic ophthalmological parameters (refraction, axial length, visual acuity), topographic keratometry, anterior segment optical coherence tomography, and ocular response analyzer were used for structural and functional assessment of the cornea and sclera.

Results: In MS there was a statistically significant increase in the radius of curvature and a decrease in corneal refraction in the central zone compared to the control group. There were no significant differences in central corneal thickness, but there was a significant decrease in the thickness of the sclera in the limbal zone compared to the control group. There were no statistically significant changes in corneal hysteresis and corneal resistance factor in MS.

Conclusion: This study confirmed the previously obtained data on the tendency of the optical power to reliably decrease in MS (flattening of the cornea). This symptom can be considered as a compensatory factor affecting clinical refraction, while the decrease in the thickness of the sclera - as the main reason for aaxial length elongation in MS. There were no clear patterns of dependence of the changes in the cornea and sclera analyzed in this study on the presence or absence of ectopia lentis. Changes in the lens, perhaps, should be regarded only as one of the potential components of the ocular symptom complex in MS.