Structural and function characteristics of vitelliform macular dystrophy in a pediatric cohort

Abstract

Purpose : To examine structural and functional characteristics of pediatric patients with vitelliform macular dystrophy (VMD).

Methods : This retrospective study included a cohort of pediatric patients who presented to the ophthalmic genetics clinic with VMD. Analysis of demographics, structural findings (optical coherence tomography (OCT)), functional assessments (best corrected visual acuity (BCVA), electrooculogram (EOG), electroretinogram (ERG)), and genotype were conducted in selected participants.

Results : 24 eyes of 12 patients (5 females, 7 males; mean age 10.7±5.2 years at baseline) were evaluated. This study included 12 individuals from nine families of which eight have molecularly confirmed BEST1 pathogenic variants, and one with a negative result. At baseline, the mean BCVA OD measured 20/39 (range 20/16 – 20/100) and 20/41 (range 20/16 – 20/125) (n=22/24); one patient could only complete binocular Teller acuity testing (20/540 OU). 21/24 eyes (18 bilateral, seven multifocal) had vitelliform lesions. Three (12.5%) eyes presented in the previtelliform stage, 6 (25.0%) vitelliform, 5 (20.8%) pseudohypopyon, 9 (37.5%) vitelliruptive, and 1 (4.2%) with choroidal neovascularization (CNV). OCT mean central subfield thickness (CST) at baseline was 294.1±155.2µm OD (n=7) and 259.0±147.2µm OS (n=7). CST had no significant correlation with BCVA (Spearman r=0.07, p=0.8). EOG Arden ratio was abnormal in 3 of 4 eyes at baseline. ERG recorded for one patient showed normal amplitudes and mildly increased latency of cone flicker responses (OU). Six patients had a follow-up mean of 6.8±5.6 years. Three eyes of three patients progressed: pseudohypopyon stage to vitelliruptive with decreased BCVA (20/100 to 20/125), vitelliform stage to vitelliruptive with decreased BCVA (20/16 to 20/40), and vitelliform stage to atrophic with decreased BCVA (20/25 to 20/80). No additional patients developed CNV.

Conclusions : Pediatric patients can present with VMD, but research is limited in this age group. Our work presents structural and functional findings in 12 patients, as well as longitudinal data. Patients with single lesions bilaterally, in the vitelliruptive stage associated with BEST1 variants were most common in our cohort. Additional work in larger cohorts will help us gain a deeper understanding of pediatric VMD.

This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.