Case Report Spectral-domain Optical Coherence Tomography of Combined Hamartoma of the Retina and Retinal Pigment

Neurofibromatosis is the most common phakomatosis, with an estimated prevalence of approximately one case per 3000 in the general population [1]. Neurofibromatosis type 2 (NF-2) is a rare autosomal dominant disease with a birth incidence estimated to be one in 33,000 to 40,000 [2,3]. Ocular features of NF-2 include juvenile posterior subcap-sular cataracts, combined hamartoma of the retinal and retinal pigment epithelium (CHRRPE), epiretinal mem-brane (ERM), optic nerve meningioma, optic disc glioma, intraocular schwannoma, and neurotrophic keratopathy [4-9]. CHRRPE is an uncommon, benign hamartomatous mal-formation involving the retinal pigment epithelium (RPE), neurosensory retina, retinal vessels. and adjacent vitreous [10]. Loss of heterozygosity for the NF-2 gene has been demonstrated in dysplastic or hamartomatous lesions of the retina and optic disc [11]. Here, we present spectral-domain optical coherence to-mography (SD-OCT) findings of a CHRRPE associated NF-2 in a pediatric patient. Case Report 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 mul-tiple 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 subcapsu-lar 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 vessel