Coexistence of Retinopathy of Prematurity With Peripapillary Staphyloma and Optic Nerve Hypoplasia in an Extremely Preterm Infant: Diagnostic and Therapeutic Challenges.

Abstract

The authors present the case of a premature female infant born at 23 weeks + 6 days with retinopathy of prematurity, alongside two rare congenital ocular abnormalities: right peripapillary staphyloma and left optic nerve hypoplasia. Despite receiving anti-vascular endothelial growth factor treatment, the disease showed progressive worsening, necessitating additional laser therapy. Genetic testing identified a 1q21.1 microdeletion, a rare autosomal dominant alteration known to cause a spectrum of phenotypic manifestations, including ocular anomalies. However, its association with peripapillary staphyloma has not been previously reported. This case highlights the complex interplay between retinopathy of prematurity, congenital optic nerve anomalies, and potential underlying genetic factors, underscoring the need for further investigation to enhance management strategies and improve long-term visual outcomes in preterm infants. Early diagnosis and timely intervention remain crucial to prevent severe visual impairment, particularly in cases with coexisting congenital and vascular retinal anomalies.