Ophthalmic findings in pediatric patients with craniofacial scleroderma

To describe the incidence and spectrum of ophthalmic findings in pediatric patients with craniofacial linear scleroderma.

The medical records of patients <18 years of age diagnosed with craniofacial scleroderma and attending a multidisciplinary quaternary clinic between June 2021 and November 2024 were reviewed retrospectively. The following data were extracted from the record: visual acuity, exophthalmometry, ocular motility, pachymetry, slit lamp examination, dynamic retinoscopy, intraocular pressure, cycloplegic refraction, dilated fundus examination, wide-field fundus photography, and, when available, other ophthalmic imaging (fundus fluorescein angiography, slit lamp photographs, or optical coherence tomography). The main outcome measure was presence and categorization of abnormal ophthalmic findings.

A total of 72 pediatric patients with a mean age of 10.3 ± 4.2 years were included. Anterior segment abnormalities were identified in 53 patients (74%), most commonly dry eye disease in 46 patients (64%). Ocular adnexal abnormalities were found in 38 (53%), most commonly meibomian gland disease in 26 (36%). Posterior segment abnormalities were documented in 44 patients (61%). The most common posterior segment finding was abnormal retinal vessels (n = 23). Retinal dialysis, the most vision-threatening abnormality, was found in a single patient.

To our knowledge, this is the largest study cohort of pediatric craniofacial scleroderma. Our findings underscore the diversity of ophthalmic involvement, including ocular adnexa, ocular surface, ocular motility, anterior segment, and posterior segment changes.