Abstract: Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder characterized by vascular malformations affecting the skin, brain, and eyes. This article provides a comprehensive review of SWS, exploring its underlying pathophysiology, clinical manifestations, diagnostic criteria, treatment modalities, and recent advancements. By delving into the complexities of SWS, ophthalmologists can enhance their understanding of this condition and improve patient care.

Introduction: Sturge-Weber Syndrome poses diagnostic and therapeutic challenges due to its variable presentation and multisystem involvement. Early recognition and appropriate management are crucial for optimizing outcomes in individuals with SWS.

Pathophysiology: SWS is characterized by congenital capillary malformations (port-wine stains) of the face, leptomeningeal angiomas, and glaucoma. The underlying cause is a somatic mutation in the GNAQ gene, leading to dysregulated angiogenesis and vascular malformations.

Clinical Features: Clinical manifestations of SWS include facial port-wine stains, neurological symptoms such as seizures, intellectual disability, and ophthalmic complications such as glaucoma, choroidal hemangiomas, and retinal detachment. Ophthalmologists play a crucial role in diagnosing and managing ocular manifestations of SWS.

Diagnostic Criteria: Diagnosis of SWS is based on clinical features and imaging studies such as MRI or CT scans to visualize leptomeningeal angiomas. Ophthalmic evaluation, including fundoscopy and gonioscopy, helps identify ocular complications such as glaucoma and choroidal hemangiomas.

Management Strategies: Management of SWS involves a multidisciplinary approach, including dermatologists, neurologists, and ophthalmologists. Treatment modalities aim to control seizures, manage neurological symptoms, and address ophthalmic complications such as glaucoma with medications, laser therapy, or surgery.

Recent Advances: Recent innovations in SWS management focus on improving diagnostic techniques, optimizing treatment strategies, and minimizing disease complications. Advancements in imaging modalities, genetic testing, and targeted therapies offer potential benefits in early diagnosis and personalized treatment approaches.

Conclusion: Sturge-Weber Syndrome is a complex neurocutaneous disorder with variable clinical manifestations and multisystem involvement. By staying informed about the latest research and innovations in SWS management, ophthalmologists can play a vital role in improving patient outcomes and quality of life.

For further reading and reference:

• National Organization for Rare Disorders (NORD) – Sturge-Weber Syndrome: https://rarediseases.org/rare-diseases/sturge-weber-syndrome/
• Sturge Weber Foundation: https://www.sturge-weber.org/
• American Academy of Ophthalmology – Sturge-Weber Syndrome: https://www.aao.org/eye-health/diseases/sturge-weber-syndrome