Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome.
Martina FormisanoMaria Chiara di PippoLuca ScuderiSolmaz AbdolrahimzadehPublished in: Ophthalmic genetics (2021)
Background: Diffuse choroidal hemangioma (DCH) is a benign vascular tumor that is characteristically found in the Sturge-Weber syndrome (SWS). Recent genetic discoveries demonstrate that DCH occurs sporadically from an activating mutation in GNAQ at codon R183. Mutations in GNAQ or GNA11 result in dysregulation of the mitogen-activated protein kinase, which influences gene transcription and results in cellular proliferation. DCH may not always be readily detected on routine ophthalmological examination, consequently diagnosis and multidisciplinary referral are often delayed.Purpose: A literature search was performed through April 2020 without a lower date limit. This review will summarize the pathogenesis, diagnosis and management of DCH.Discussion: Multimodal imaging facilitates early detection of the condition. In particular, enhanced depth imaging spectral domain optical coherence tomography enables non-invasive, high-resolution visualization of the choroid to even detect mild choroidal thickening. Management of symptomatic DCH is generally difficult and results in poor visual outcome, thus, treatment is generally unwarranted, unless the hemangioma complicated by serous retinal detachment. The main treatment method is radiation therapy with external beam radiation therapy, proton beam therapy, plaque brachytherapy, and gamma knife surgery where low doses of radiation entail fewer complications. One method of alternative management is with photodynamic therapy that, although less invasive with a lower rate of complications, is not always feasible or effective in cases with extensive exudative retinal detachment.Conclusions: Multimodal ophthalmological imaging facilitates diagnosis of DCH and lifelong surveillance is essential in patients.
Keyphrases
- optical coherence tomography
- high resolution
- radiation therapy
- photodynamic therapy
- diabetic retinopathy
- age related macular degeneration
- signaling pathway
- end stage renal disease
- minimally invasive
- chronic kidney disease
- optic nerve
- risk factors
- public health
- newly diagnosed
- high grade
- primary care
- fluorescence imaging
- copy number
- systematic review
- low grade
- genome wide
- coronary artery disease
- radiation induced
- case report
- bone marrow
- transcription factor
- gene expression
- coronary artery bypass
- low dose
- protein kinase
- smoking cessation