Biometry Characteristics in Adults and Children With Marfan Syndrome: From the Marfan Eye Consortium of Chicago

Abstract

PURPOSE To report on the biometric findings of adults and children with Marfan syndrome (MFS) recruited from 2 annual National Marfan Foundation conferences (2012 and 2015). DESIGN Cross-sectional study. METHODS Subjects diagnosed with MFS by Ghent 2 nosology were included for analysis. Subjects were divided into “adults” (≥16 years of age) and “children” (5–15 years of age). Biometric data included values for refractive error, axial length (AL), corneal curvature, anterior chamber depth, lens thickness, and central corneal thickness. RESULTS Of the 117 subjects evaluated, 74 (35 adults, 32 children, and 7 children <5 years of age) had a definite diagnosis of MFS and were included in the study. The AL was longer (25.25 ± 0.32 mm vs 24.24 ± 0.33 mm, P [ .03) and the lens was thicker (3.94 ± 0.09 mm vs 3.62 ± 0.10 mm, P [ .03) in adults. Both groups had flat corneas (average keratometry [Kmed] of 41.59 ± 0.35 diopters [D] in adults vs 40.89 ± 0.36 D in children, P [ .17). A negative correlation was found between AL and Kmed (L0.33, P < .001). The corneas of patients with MFS with ectopia lentis (EL) were significantly flatter and with higher degree of corneal astigmatism compared to patients without EL (Kmed of 40.68 ± 0.31 D vs 41.75 ± 0.28 D, P < .01 and corneal astigmatism of 1.68 ± 0.16 D vs 1.13 ± 0.14 D, P =.01). CONCLUSIONS Children with established MFS have flat corneas at least to the same degree as adults. Corneas of patients with MFS with EL are flatter and have a higher degree of corneal astigmatism. We strongly suggest that corneal parameters should be measured if MFS is suspected, especially in children that may not yet have developed EL.

Ten‐year reinvestigation of ocular manifestations in Marfan syndrome

“…In the current study, there were no significant changes in AL or K from baseline to follow‐up and no changes in the frequency of MFS patients with AL over 24.5 mm or K values flatter than 41.5 D. This corresponds to studies on healthy adults where AL seems to be stable or decrease and K seems to be stable . One study found longer AL in the adult MFS patients compared to in the children, but no difference in K values . One hypothesis behind longer AL in MFS is that the altered fibrillin molecule may allow for stretching of the sclera and thereby the globe over time .…”

“…Other studies have not found EL before the age of 18 months . Studies in different age groups have reported a frequency of EL in children younger than 10 years from 63% to 75% and younger than 17 years from 15% to 57% . Independent of age, the prevalence of EL is reported to be between 30% and 87% and indicate that there might be progression of EL after childhood, even though it seems that most dislocations develop before 18 years of age .…”

“…34,35 One study found longer AL in the adult MFS patients compared to in the children, but no difference in K values. 12 One hypothesis behind longer AL in MFS is that the altered fibrillin molecule may allow for stretching of the sclera and thereby the globe over time. 36 According to this hypothesis, one may also speculate that abnormalities in the elastic components of the corneal stroma results in corneal thinning.…”

“…There are several reports on the ocular characteristics of MFS patients, but we are not aware of any studies that report changes in ocular findings over a long period of time in patients who are diagnosed with MFS using the current diagnostic criteria. In a previous study we presented our findings after a comprehensive ocular examination in adults diagnosed with MFS based on the Ghent‐1 criteria .…”

“…Other ocular conditions that have been suggested as being related to MFS, but not included in the Ghent criteria, are increased risk of retinal detachment, early cataract, keratoconus and glaucoma. 1,[8][9][10] There are several reports on the ocular characteristics of MFS patients, [10][11][12] but we are not aware of any studies that report changes in ocular findings over a long period of time in patients who are diagnosed with MFS using the current diagnostic criteria. In a previous study we presented our findings after a comprehensive ocular examination in adults diagnosed with MFS based on the Ghent-1 criteria.…”