Case Report: Focal Choroidal Excavation Underlying Combined Hamartoma of the Retina and Retinal Pigment Epithelium.

SIGNIFICANCE: There are few reports of focal choroidal excavation (FCE) in combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). This report documents a case of this rare condition and suggests that there might be a relationship between FCE and CHRRPE.

PURPOSE: The purpose of this study was to describe a case of FCE underlying CHRRPE.

CASE REPORT: A 6-year-old Chinese boy presented with a 2-month history of decreased vision in his left eye. Fundus examination of the left eye showed an elevated fibrotic mass in the macular area with pigment disturbance. Optical coherence tomography revealed a cup-shaped FCE in the macula with thickening and disorganization of multiple retinal layers and overlying epiretinal proliferation in the left eye. A diagnosis of FCE within CHRRPE was made, and periodic review was recommended.

CONCLUSIONS: There may be an association or a causal relationship between CHRRPE and FCE. It is plausible that FCE in the setting of CHRRPE is a developmental abnormality that occurs after birth because of a weakening of the retinal pigment epithelium and thinning of the choroid beneath the tumor. Continued monitoring for FCE progression and potential choroidal neovascularization is indicated.