Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity

Jean-Christophe Zech, Audrey Putoux, Evelyne Decullier, Anne-Emmanuelle Fargeton, Patrick Edery, Henri Plauchu, Sophie Dupuis-Girod, Jean-Christophe Zech, Audrey Putoux, Evelyne Decullier, Anne-Emmanuelle Fargeton, Patrick Edery, Henri Plauchu, Sophie Dupuis-Girod

Abstract

Purpose: To describe a five-grade classification of ectopia lentis in Marfan syndrome (MFS) and to evaluate the positive predictive value of the early grades of ectopia lentis.

Methods: We prospectively included MFS patients and their healthy relatives. The anterior segment examination was classified into grades 0 to 5, and we studied the sensitivity, specificity, and positive predictive value of ectopia lentis in this classification.

Results: Seventy-four MFS patients and thirty-six healthy controls were examined. In the MFS group, grades 1, 2, 3, and 4 were present in 15, 24, 17, and 7 patients, respectively, whereas 11 patients in this group did not present ectopia lentis. In the control group, grades 0 and 1 were observed in 30 and 6 individuals, respectively. Sensitivity to ectopia lentis of at least grade 2 was 64.9%, with 100% specificity, whereas sensitivity to ectopia lentis of at least grade 1 was 85.1%, with 83.3% specificity. The positive predictive value of ectopia lentis that was greater than or equal to grade 2 was 100%, whereas that of ectopia lentis greater than or equal to grade 1 was 91.3%.

Conclusion: High positive predictive values s were found to be associated with grades 2 and higher of the five-grade classification of ectopia lentis. This classification should help to harmonize clinical practices for this major feature of MFS.

Keywords: Marfan syndrome; classification; ectopia lentis.

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Progressive grades of lens dislocation in Marfan syndrome (MFS) (complete description in Table 1).
Figure 2
Figure 2
Slit lamp and three-mirror lens examination in MFS. (A) Schematic representation of the three-mirror lens in MFS. The three-mirror lens is placed between the slit lamp and the patient’s eye to search for lens dislocation. (B) Visualization through a mirror with the three-mirror lens of a space (arrow) between the iris (X) and the lens (*), which can correspond to a grade 2. (C) Schematic representation of the result of a slit lamp examination, showing a shift in the vertical light beam between its impact on the iris and the anterior side of lens. (D) Grade 1: we observe a minimal shift in the vertical light beam between its impact on the iris and the anterior side of lens. (E) Grade 2: we observe a greater shift in the vertical light beam between the iris and the lens. (F–H) From grade 3, using retro-illumination of retinal reflect by positioning the slit lamp in a central position makes precise visualization of the inferior part of the lens possible, as well as detailed analysis of the density of the zonular fibers. In grade 3 (F), the inferior part of the lens is clearly visible in primary gaze. Zonular fibers are considerably stretched but not broken. The density of the fibers appears normal. In grade 4 (G,H), the zonular fibers are broken, and the density of the fibers is reduced. The inferior part of the lens is crenellated. The few unbroken fibers appear to be less strained and adopt a wavy appearance. The density of the zonular fibers decreases. The inferior side of the lens becomes irregular because of modification to the zonular tension.

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