ABSTRACT
Combined hamartoma of retina and retinal pigment epithelium (CHRRPE) has been considered as a congenital benign entity with evidence of choroidal neovascularization membranes (CNVM) being associated with it in literature. This case series gives insight into the pathogenesis and the predisposing factors leading to CNVM formation in peripapillary CHRRPE using swept-source optical coherence tomography. In addition, lack of typical markers of CNVM (subretinal fluid/pigment epithelial detachment) in CHRRPE highlights the utility of optical coherence tomography angiography and the subtle optical coherence tomography findings such as “Bridge Sign” that could be instrumental in early diagnosis of CNVM in CHRRPE.
ABSTRACT
Neurofibromatosis type 2 (NF‑2) is characterized by multifocal proliferation of neural crest‑derived cells. The characteristics finding of NF‑2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. A 9 year‑old‑male child presented with left eye decreased vision for 3 months. Visual acuity was 0.0 and 0.8 LogMAR in the right and left eye, respectively. Left fundus showed an elevated, pigmented lesion with surface wrinkling and vascular tortuosity suggestive of CHRRPE with multiple presumed retinal astrocytic proliferations in mid‑periphery. He had multiple café‑au‑lait spots. Optical coherence tomography confirmed clinical findings. Magnetic resonance imaging brain showed bilateral acoustic neuroma. Recognition of this rare finding as presenting feature of NF‑2 can lead to earlier diagnosis which is vital to appropriate surveillance and possible surgical intervention. It is recommended that children with CHRRPE be screened for NF‑2.
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.