Combined Hamartoma of the Retina and Retinal Pigment Epithelium

In Brief Purpose: To assess combined hamartoma of the retina and retinal pigment epithelium with enhanced depth imaging optical coherence tomography. Methods: Retrospective, observational cases series in eight eyes of eight patients, with comparison between affected and unaffected eyes regarding enhanced depth imaging optical coherence tomography features of tumor, fovea, and choroid. Results: The mean age at presentation was 7 years. The tumor was macular (n = 5) or extramacular (n = 3). Enhanced depth imaging optical coherence tomography revealed irregularities in inner retina (n = 8) and/or all retinal layers (n = 3), with epiretinal membrane (n = 8), causing an inner retinal sawtooth (mini-peak) pattern (n = 2), full thickness retinal folds (maxi-peak) (n = 3), or both (n = 3). In the 5 macular tumors, foveal retinal thickness measured mean 608 μm compared with 244 μm in the unaffected eye (P = 0.0004). Mean tumor epicenter retinal thickness in 8 tumors measured 650 μm compared with 327 μm in a corresponding area in the unaffected eye (P = 0.01). In all cases, choroidal thickness beneath the tumor epicenter was decreased at mean 210 μm compared with 328 μm in the corresponding area of unaffected eye (P = 0.009). Conclusion: Enhanced depth imaging optical coherence tomography of combined hamartoma revealed epiretinal membrane with vitreoretinal traction in a sawtooth (mini-peak) or folded (maxi-peak) pattern. Combined hamartoma seems to be a thickened retinal mass secondary to focal vitreoretinal traction. Enhanced depth imaging optical coherence tomography of 8 eyes with combined hamartoma of retina/retinal pigment epithelium revealed retinal disorganization and epiretinal membrane (n = 8) causing inner retinal traction with characteristic sawtooth pattern (mini-peak) (n = 5) and/or full thickness retinal folds (maxi-peak) (n = 6).