Spectrum of Ophthalmic Disorders in Prader-Willi Syndrome: Implications for Early Screening and Multidisciplinary Management

Purpose To characterize the spectrum of ophthalmic disorders in children with Prader–Willi syndrome (PWS) and to evaluate the clinical value of early ophthalmic screening and intervention. Methods A retrospective analysis was conducted on ophthalmic findings from 30 clinically and genetically diagnosed children with PWS who were followed at a tertiary pediatric center. Demographic data, genetic subtypes, ophthalmic examinations, and treatment outcomes were reviewed. Results Ophthalmic abnormalities included extraocular muscle disorders, refractive errors, amblyopia, ptosis, nystagmus, retinal and optic nerve pigmentation abnormalities, tear secretion dysfunction, and impaired stereoacuity. Strabismus was identified in 9 patients (30%), including 4 cases of esotropia and 5 cases of exotropia. Refractive errors were present in 14 patients (46.7%), comprising myopia (23.3%), hyperopia (23.3%), and astigmatism (16.7%). Amblyopia was diagnosed in 5 patients (16.7%). Tear film assessment in 12 cooperative patients demonstrated reduced tear break-up time and tear meniscus height. Stereoacuity abnormalities were detected in 6 of 7 cooperative patients (85.7%). Management included refractive correction, amblyopia therapy, strabismus surgery, and artificial tear supplementation. Conclusion Ophthalmic abnormalities are common and potentially treatable in children with PWS. Early ophthalmic evaluation and multidisciplinary management may improve visual outcomes and quality of life. Routine ophthalmic screening should be incorporated into the standard care of patients with PWS.