Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes.

Abstract

To assess combined hamartoma of the retina and retinal pigment epithelium with enhanced depth imaging optical coherence tomography. 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. 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). 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.