Case Report: Sturge-Weber syndrome with contralateral morning glory syndrome

Background Sturge-Weber syndrome (SWS) and morning glory syndrome (MGS) are rare congenital disorders that present significant diagnostic challenges. This case describes a girl whose ocular examination revealed distinct manifestations of these two rare but etiologically separate congenital anomalies, a combination that has never been reported before. Case presentation A 9-year-old girl came to our ophthalmology department complaining of blurred vision in her left eye that had lasted for more than 6 months. On examination, a port-wine birthmark was confirmed on the right facial side. The visual acuity was normal in the right eye (20/20) but severely reduced in the left, improving only from counting fingers to 20/1000 with correction. Funduscopy revealed diffuse choroidal hemangiomas in the right eye and an enlarged optic disc with a central funnel-shaped excavation and radiating vascular anomalies accompanied by retinal detachment in the left eye. The patient was ultimately diagnosed with SWS affecting the right eye and MGS with retinal detachment in the left eye. Conclusion This case is noteworthy as it documents the first instance of SWS and MGS coexisting in one patient, supported by imaging findings, thereby challenging established paradigms regarding their individual clinical manifestations and underlying pathogenesis. For patients with port-wine birthmark or unilateral optic disc anomalies, thorough assessment of the contralateral eye and comprehensive neurological evaluation are essential to detect associated conditions that may threaten vision and cause neurological damage.