Retinal Structural and Microvascular Findings During Novel NPR-B-Targeted Vosoritide Therapy in Children with Achondroplasia.

Background: The aim of this study was to evaluate the short-term ocular findings during vosoritide therapy in children with achondroplasia using optical coherence tomography (OCT) and OCT angiography (OCTA). Methods: In this study, pediatric patients with genetically confirmed achondroplasia underwent standardised ophthalmologic examination, OCT, and OCTA imaging at baseline and after 12 months of vosoritide treatment. Structural parameters, including macular thickness and peripapillary retinal nerve fiber layer (RNFL), as well as vascular densities of the superficial and deep capillary plexuses and choriocapillaris, were analysed. Findings were compared longitudinally and with age- and sex-matched healthy controls. Results: A total of 12 patients and 12 controls were included. During the 12-month follow-up, nominal increases were observed in nasal parafoveal thickness and in average, superior, and nasal RNFL thickness (p < 0.05); however, none remained significant after false-discovery-rate correction. No significant longitudinal changes were detected in OCTA-derived vascular densities. However, vascular density was significantly lower in specific regions in the achondroplasia group compared to controls both before and after treatment. No clinically relevant ocular pathology was identified. Conclusions: No clinically apparent ocular abnormalities or statistically robust longitudinal changes in retinal structure or microvascular perfusion were identified over one year of vosoritide treatment in this small, preliminary cohort.