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Reecha Sachdeva, Martin Heur, William J. Dupps, Rocio Moran, Richard Lorber, Lars Svensson, Elias I. Traboulsi; The Value of Lens Subluxation and Keratometry Measurements in the Diagnosis of Marfan Syndrome in Children. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1573.
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It is unclear whether ectopia lentis (EL) and flat corneas correlate with a clinical diagnosis of Marfan syndrome in children, as patients may not manifest systemic findings until later in life. We explored the utility of keratometry (K) values and the presence of lens subluxation in the diagnosis of Marfan syndrome in children.
We reviewed the charts of all patients under 18 years of age who were referred for ocular examination to rule out Marfan syndrome. Patients were categorized into Marfan or control groups using the revised Ghent nosology. Patients with other connective tissue disease or those who could be neither diagnosed nor ruled out were excluded. Chi-square analysis was performed on the presence or absence of EL, T test analysis was performed on K values, and odds ratios (ORs) were calculated for the following groups: presence of EL with normal K values (greater than or equal to 42.0 diopters (D)); absence of EL with flat K values (less than 42.0 D); presence of both EL and flat K values; and absence of EL with normal K values.
Fifty-eight patients were identified in the Marfan group and 131 patients in the control group. The mean age was 11.68 years, with a median of 13 years (range 1-18 years). Marfan patients were more likely to have EL (P<0.0001), and had significantly lower K values than controls (40.98 D vs 43.36 D, P<0.0001). The ORs for the presence of EL with normal K values (OR 4.23, 95% confidence interval (CI) 1.31-13.591), as well as the presence of EL with flat K values (OR 43.94, CI 12.35-156.41) revealed a positive association between these factors and Marfan diagnosis. A negative association was identified between normal K values and the absence of EL with Marfan diagnosis (OR 0.055, CI 0.023-0.13), and no association was identified between flat K values in the absence of EL (OR 0.97, CI 0.37-2.53).
Ectopia lentis and flat corneas, both together and separately, are associated with an ultimate diagnosis of Marfan syndrome in children. The presence of lens subluxation correlates strongly with diagnosis, especially when identified in conjunction with flat K values. Flat K values alone do not correlate with the diagnosis. The absence of lens subluxation in the setting of normal K values in children was associated with subsequent rule-out of Marfan syndrome.
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