Optical Coherence Tomography Imaging of Choroidal Abnormalities in Neurofibromatosis Type 1

We report a case of neurofibromatosis type 1 (NF1) examined by infrared fundus autofluorescence (IR-FAF) and optical coherence tomography (OCT) to characterize the associated choroidal abnormalities. The conventional ophthalmoscopic findings were unremarkable. However, IR-FAF revealed multiple bright patchy lesions in the choroid of the posterior pole, in both eyes. OCT demonstrated irregular hyperreflectivity at the sites of these lesions. Patients with NF1 may have typical choroidal lesions that are visible on IR-FAF, which can be confirmed through OCT. 1. Introduction Neurofibromatosis type 1 (NF1), an autosomal dominant disorder with a high mutation rate, is considered a neurocristopathy characterized by pathological hamartomatous proliferations of neural crest-derived tissues. A minimum of 2 of the following criteria are required for diagnosis: 6 or more café-au-lait spots, 2 or more cutaneous neurofibromas, 1 or more plexiform neurofibromas, axillary or groinal freckling, optic glioma, 2 or more iris Lisch nodules, distinctive bony lesions, and a first-degree relative with NF1 [1]. Among these criteria, iris Lisch nodules are frequently observed and well recognized. However, retinal and choroidal lesions have been considered unusual in eyes with this disease. In 2000, Yasunari et al. [2] suggested that choroidal abnormalities were easily detectable by infrared light examination with a scanning laser ophthalmoscope in 100% of their NF1 patients. Recently, the cutoff value for choroidal nodules detected by infrared fundus autofluorescence (IR-FAF) was reported to be 1.5 [3]. The choroid is one of the most commonly affected structures by NF1, and IR-FAF is typically used to detect choroidal nodules in NF1 patients [4–8]. To our knowledge, there are few reports in the literature describing the use of optical coherence tomography (OCT) to identify choroidal abnormalities in NF1 patients [3, 7, 8]. Herein, we report on the IR-FAF and OCT findings for a patient with NF1. 2. Case Report A 25-year-old man with NF1 was referred to our clinic for an ophthalmological examination. The NF1 diagnosis was made on the basis of several café-au-lait spots and cutaneous neurofibromas. The patient’s family and personal medical history added no significant information. He had no visual symptoms. His best-corrected visual acuity was 1.2 in both eyes. There were at least 3 Lisch nodules on each side. Ophthalmoscopic examinations of the fundi did not show any abnormalities (Figures 1(a) and 1(b)). However, IR-FAF (Heidelberg Retina Angiograph 2, Heidelberg Engineering,