Purpose: To compare the retinal vasculature characteristics between eyes of patients with and without phacomatosis.
Methods: Case-control observational study with retinal vasculature evaluation by optical coherence tomography and optical coherence tomography angiography of the macula and disk.
Results: The study included 80 eyes. Neurofibromatosis Type 1 patients presented with a higher central macular thickness (P = 0.007), a lower optical disk nervous fiber layer (P = 0.006), a lower perimeter, area, and circularity of the foveal avascular zone (P < 0.05), a higher vascular density of macular avascular layer (AMVD) (P = 0.004), and a lower papillary vascular density of superficial capillary plexus (SPVD) (P = 0.048). Patients with tuberous sclerosis presented with an increase in central macular thickness (P = 0.024) and in vascular densities (P < 0.05) [except for macular vascular density of deep capillary plexus (PMVD), AMVD, and SPVD]. Patients with Sturge-Weber syndrome showed a decrease in optical disk nervous fiber layer (P < 0.001), subfoveal choroid thickness (P = 0.011), macular vascular density of superficial capillary plexus (SMVD) (P = 0.036), and SPVD (P < 0.001).
Conclusion: Phacomatosis patients showed statistically significant differences of retinal vasculature characteristics, compared to eyes without pathology. Further studies are needed to determine when and if these parameters change with the course of the disease and if they can be used as biomarkers for disease severity or progression.
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