Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome

Area of Science:

• Ophthalmology
• Genetics
• Oncology

Background:

• Diffuse choroidal hemangioma (DCH) is a benign vascular tumor associated with Sturge-Weber syndrome (SWS).
• Sporadic DCH arises from activating GNAQ mutations (codon R183), leading to MAPK pathway dysregulation and cellular proliferation.
• Delayed diagnosis is common due to subtle presentation on routine examination.

Purpose of the Study:

• To review the pathogenesis, diagnosis, and management of diffuse choroidal hemangioma.
• To highlight the role of advanced imaging in early detection.
• To discuss current and alternative treatment strategies.

Main Methods:

• Literature search conducted through April 2020.
• Review of multimodal imaging techniques, particularly enhanced depth imaging spectral domain optical coherence tomography (EDI-SD-OCT).
• Analysis of treatment outcomes for symptomatic DCH.

Main Results:

• Multimodal imaging, especially EDI-SD-OCT, allows high-resolution visualization for early DCH detection.
• Management of symptomatic DCH is challenging with often poor visual outcomes.
• Radiation therapy (various forms) and photodynamic therapy are primary treatment options, each with limitations.

Conclusions:

• Multimodal ophthalmological imaging is key for diagnosing DCH.
• Lifelong surveillance is essential for patients diagnosed with DCH.
• Timely diagnosis and management are critical for visual prognosis.