Visual and refractive outcomes in pediatric Marfan syndrome

To describe the refractive outcomes and best-corrected visual acuity (BCVA) for pediatric patients with Marfan syndrome.

The medical records of patients with Marfan syndrome seen at a pediatric tertiary care center between 2015 and 2023 were reviewed retrospectively. Patients >21 years of age at presentation or with follow-up <6 months were excluded. Eyes were grouped based on lens and refractive status at last follow-up: (A) no subluxation, (B) subluxation with phakic refraction, (C) subluxation with aphakic refraction or aphakia following lensectomy, and (D) pseudophakia.

A total of 210 eyes of 105 patients were included: group A, 59 (28.1%); group B, 77 (36.7%); group C, 43 (20.5%); and group D, 31 (14.7%). Fifty-five patients were male (52.4%). Mean age at initial visit was 5.4 ± 4.5 years, and mean follow-up was 9.0 ± 5.5 years. Groups differed in the proportion of eyes with BCVA worse than 20/40 (A, 1 [1.7%]; B, 7 [9.6%]; C, 9 [20.9%]; D, 1 [3.2%]; P = 0.005) and in mean spherical equivalent (A, -2.1 ± 3.0 D; B, -6.1 ± 6.5 D; C, +10.0 ± 4.1 D; D, -0.7 ± 1.8 D; P < 0.001) at final examination. The most common cause for vision worse than 20/40 was amblyopia. Major postoperative complications included retinal detachment in 3 (1.4%) eyes and glaucoma in 3 (1.4%) eyes.

Lens subluxation requires precise refraction measurements and some patients may benefit from aphakic correction. Pseudophakic eyes often demonstrate low residual refractive error and BCVA comparable to phakic eyes without lens subluxation.