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Current concepts on ocular vascular abnormalities in the phakomatoses
Alessandro de Paula1, Solmaz Abdolrahimzadeh1, Serena Fragiotta1
1NESMOS Department, Ophthalmology Unit, St. Andrea Hospital, University of Rome La Sapienza, Rome, Italy.
Seminars in Ophthalmology
|March 23, 2021
Summary
Phakomatoses cause ocular vascular abnormalities, often diagnosed with advanced imaging like OCT angiography. Research is ongoing for effective ophthalmic management, targeting vascular endothelial growth factor in related tumors.
Area of Science:
- Ophthalmology
- Genetics
- Vascular Biology
Background:
- Phakomatoses, including neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis complex, present with characteristic ocular vascular abnormalities.
- These include vascular tortuosity, corkscrew retinal vessels, moyamoya-like changes, microaneurysms, hemangioblastomas, and arterial sheathing, potentially linked to neural crest cell dysfunction and vasoproliferative tumors.
Purpose of the Study:
- To review ophthalmic vascular abnormalities in phakomatoses.
- To highlight the role of novel imaging technologies in diagnosing these conditions.
Main Methods:
- Review of current literature on phakomatoses and ocular manifestations.
- Focus on advanced imaging techniques such as near-infrared reflectance and spectral domain optical coherence tomography angiography (OCTA).
Main Results:
- Novel imaging, particularly OCT angiography, has revealed previously undetected macular vascular alterations in phakomatoses.
- These findings improve diagnostic capabilities for these complex genetic disorders.
Conclusions:
- Ocular vascular abnormalities are key diagnostic features of phakomatoses.
- Active research is exploring ophthalmic management strategies, with a focus on targeting vascular endothelial growth factor (VEGF) due to its role in hemangioblastomas and proliferative tumors.
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