Spectral-domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium in neurofibromatosis.
A 5-year-old girl was diagnosed with neurofibromatosis type 2 (NF-2) due to multiple neurofibromas, cafe-au-lait spots, and schwannomas of the brain. During ophthalmologic evaluation, a posterior subcapsular cataract and a gray-green colored subretinal lesion were found in right eye. Fluorescein angiography (FA) revealed a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). At age 9, she underwent cataract surgery. At this time FA and spectral-domain optical coherence tomography (SD-OCT) were taken. The SD-OCT showed an elevated hyperreflective mass in the retina with prominent attenuation of the inner and outer retina, but minimal attenuation in the photoreceptor layers. The underlying retina appeared to be disorganized and thick (791 µm). This is the first case report of SD-OCT imaging of a CHRRPE associated with NF-2 in a pediatric patient. By using SD-OCT in this patient, we could obtain detailed tumor characteristics, and SD-OCT may be helpful in the diagnosis and management of CHRRPE.
Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.
Hae Min
HM
Kang
Hyoung Jun
HJ
Koh
Eun Jee
EJ
Chung
D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006222:Hamartoma / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D016518:Neurofibromatosis 2 / Q000150:complications* / Q000175:diagnosis; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity
Combined hamartoma of retina and retinal pigment epithelium; Neurofibromatoses; Spectral-domain optical coherence tomography