A Comprehensive Review of Congenital Eye Diseases in Pediatrics: Etiology, Diagnosis, and Management

Congenital eye diseases in children, arising from genetic mutations and developmental anomalies, are a significant cause of childhood visual impairment worldwide and often lead to lifelong visual disability if left untreated. This narrative review synthesizes current knowledge and emerging evidence on etiology, including genetic and environmental factors, clinical manifestations, diagnostic approaches, and management strategies for key pediatric ocular conditions such as congenital cataracts, retinopathy of prematurity (ROP), inherited retinal dystrophies, macular dystrophies, and microphthalmia. Genetic underpinnings are a common theme, with many of these disorders being associated with identifiable gene mutations and emerging gene therapies offering hope for conditions previously deemed untreatable. Contemporary diagnostic tools such as advanced ocular imaging and genetic testing facilitate early detection, which is critical for improved prognoses. Therapeutic advances are highlighted, from refined surgical techniques (e.g., early cataract extraction) to novel interventions like gene replacement therapy for inherited retinal dystrophies and stem cell applications aimed at retinal regeneration. Despite these advances, significant research gaps remain, particularly in understanding long-term outcomes, improving treatment accessibility for rare diseases, and translating emerging therapies into clinical practice. Emphasis is placed on early detection via screening programs (e.g., newborn eye exams, ROP screening) and timely multidisciplinary interventions, which are crucial for improving visual outcomes.