Pupillary Manifestations of Marfan Syndrome

Abstract

Purpose : Patients with Marfan syndrome have been cited in literature to have “poorly dilating pupils”, but no study has quantitatively measured the pupillary function of these patients. At the Marfan Consortium of Chicago on August 6, 2015, we performed a cross-sectional, observational clinical study to gather data on a population of patients with Marfan syndrome to quantitatively describe their pupillary function.

Methods : Patients with Marfan Syndrome were recruited by the Marfan Eye Consortium of Chicago during the National Marfan Foundation’s annual conference. Pediatric age-matched controls were consented in the Ophthalmology Clinic of Ann & Robert H. Lurie Children’s Hospital of Chicago. Pupillometry data were measured using the handheld NeurOptics PLR-200^TM Pupillometer; 57 eyes from 29 patients who have Marfan syndrome were examined. Exclusion criteria included patients who presented to the clinic with a Marfan-like syndrome but no clinical diagnosis of Marfan syndrome. Dynamic pupillary measurements were obtained in scotopic conditions including: maximum diameter, minimum diameter, constriction percentage, latency, maximum constriction velocity, average constriction velocity, dilation velocity, and 75% recovery time.

Results : 57 eyes from 29 patients (age 3-70, 13 male, 16 female) were included in the study. Data from adult patients, pediatric patients (age<18), age-matched pediatric controls (mean age difference 0.39 ± 0.42 years), and the total Marfan patients are presented in Table 1. Two-tailed paired t-tests were performed between pediatric Marfan patients and their age-matched controls. Statistical significance (defined by p<0.05) was found with minimum pupil diameter and maximum constriction velocity. Strong statistical significance (defined by p<0.01) was found with maximum pupil diameter and average constriction velocity. Very strong statistical significance (defined by p<0.001) was found with average dilation velocity.

Conclusions : Our data highlight pupillary parameters within a population of Marfan patients under scotopic conditions. Pupil sizes are smaller and constriction and dilation velocities are slower in the pediatric Marfan patients. These findings, for the first time, quantitatively demonstrate differences in pupillary function in pediatric patients with Marfan syndrome.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

 

Table 1: Dynamic pupillary measurements of Marfan population and pediatric age-matched controls.