Spectral-domain Optical Coherence Tomography of Combined Hamartoma of the Retina and Retinal Pigment Epithelium in Neurofibromatosis.
- Author:
Hae Min KANG
1
;
Hyoung Jun KOH
;
Eun Jee CHUNG
Author Information
- Publication Type:Case Reports
- Keywords: Combined hamartoma of retina and retinal pigment epithelium; Neurofibromatoses; Spectral-domain optical coherence tomography
- MeSH: Child, Preschool; Diagnosis, Differential; Female; Hamartoma/complications/*diagnosis; Humans; Neurofibromatosis 2/*complications/diagnosis; Retinal Diseases/complications/*diagnosis; Retinal Pigment Epithelium/*pathology; Tomography, Optical Coherence/*methods; Visual Acuity
- From:Korean Journal of Ophthalmology 2013;27(1):68-71
- CountryRepublic of Korea
- Language:English
- Abstract: 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 microm). 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.
