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Case Report

Focal Choroidal Excavation Underlying Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Wang, Qian, MD1; Liu, Jing Hua, MD1; Jiao, Xuan, MD1; Wei, Wen Bin, MD1; Lu, Hai, MD1*

doi: 10.1097/OPX.0000000000001348

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.

1Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, and Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Hospital, Capital Medical University, Beijing, China *

Submitted: April 21, 2018

Accepted: October 15, 2018

Funding/Support: Beijing Tongren Hospital, Capital Medical University (TRZDYXZY201703; to HL); The Priming Scientific Research Foundation for the Junior Research in Beijing Tongren Hospital Capital Medical University (2017-YJJ-ZZL-009; to QW); and Beijing Municipal Administration of Hospitals Incubating Program (PX2019008; to QW).

Conflict of Interest Disclosure: None of the authors have reported a financial conflict of interest.

Author Contributions: Conceptualization: QW, JHL, XJ, HL; Investigation: QW; Resources: XJ; Supervision: JHL; Writing – Original Draft: QW; Writing – Review & Editing: QW, WBW, HL.

© 2019 American Academy of Optometry