Current concepts on ocular vascular abnormalities in the phakomatoses

Background: Neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis complex are classified under the term phakomatoses. They are characterized by ocular vascular abnormalities such as vascular tortuosity, corkscrew retinal vessel configuration, moyamoya-like aspect, microaneurysms, hemangioblastomas, and focal sheathing of retinal arteries, possibly due to abnormal formation, migration, and differentiation of neural crest cells. These alterations can be the first sign or the hallmark of disease and can be related to vasoproliferative tumors. Purpose: Novel imaging technologies in ophthalmology, such as near-infrared reflectances and spectral domain optical coherence tomography, have improved our knowledge in the diagnosis of these pathologies. Previously undetected macular vascular alterations have been reported in phakomatoses using optical coherence tomography angiography. This review will summarize the ophthalmic vascular abnormalities and novel imaging methods in the phakomatoses. Conclusion: Active research is being led into the ophthalmic management of these conditions and their complications, and owing to elevated vascular endothelial growth factor production from hemangioblastoma, hamartoma, and retinal vascular proliferative tumors, increasing interest in this line of therapy has been conducted although research is still ongoing in this area.