Spectral-domain Optical Coherence Tomography of Combined Hamartoma of the Retina and Retinal Pigment Epithelium in Neurofibromatosis
A 5-year-old girl visited the ophthalmology clinic for an ophthalmologic evaluation under the diagnosis of NF-2. Multiple neurofibromas, café-au-lait macules, and multiple schwannomas of both trigeminal nerves from brain magnetic resonance imaging (MRI) lead to the diagnosis of NF-2. At the initial presentation, the visual acuity was 0.05 logarithm of minimum angle resolution (logMAR) of right eye and 0.4 logMAR of left eye. Posterior subcapsular cataract and a gray-green colored subretinal lesion were found in the right eye. There were no specific signs in the left eye. Fundus photography and fluorescein angiography (FA) were performed. FA showed tortuosity of the vessels with localized areas of pinpoint hyperfluorescence and late retinal vascular leakage, corresponding to the retinal lesion in the right eye. These findings were suggestive of a CHRRPE. During follow-up, bilateral acoustic schwannomas and multiple neurogenic tumors in both lungs were found. Also, DNA test revealed pArg198term mutation on the NF-2 gene, which is known to cause NF-2.\nAt age 9, she underwent phacoemulsification and posterior chamber intraocular lens implantation surgery under general anesthesia. B-scan ultrasonography of the right eye revealed no choroidal excavation or extrascleral extension. After operation, visual acuity was 0.1 logMAR OD and 0.6 logMAR OS. FA and SD-OCT were performed for evaluation of the retinal lesion. FA showed no significant change (). SD-OCT revealed a hyperreflective ERM with traction and retinal folds. Perimacular posterior vitreous detachment was also found. The inner layers of the underlying retina were irregularly thickened (up to 791 µm), but the photoreceptor inner segment/outer segment (IS/OS) junction and RPE layers were not significantly attenuated (). By these examinations, we confirmed the diagnosis of CHRRPE, with relatively less involvement of the photoreceptor layer. We recommended surgical intervention, including pars plana vitrectomy with membrane peeling, but the parents of the patient refused to do so. Therefore, we continued to conduct regular checkups.