Epiretinal membrane and cataract in a 5-year-old boy with the suspicion of neurofibromatosis type 2

Abstract

Abstract Different ocular findings have been described in association with neurofibromatosis 2 (NF2). Detailed ophthalmological examination of asymptomatic subjects with a family history of NF2 could help confirm the diagnosis in young patients. We present a case of unilateral cataract and bilateral epiretinal membranes in a 5-year-old boy with a family history of neurofibromatosis 2. The patient was referred to our department with diminished visual acuity bilaterally and an initial diagnosis of cataract in the right eye. Bestcorrected visual acuity was 3/19 in the right eye and 3/24 in the left eye (LH charts). On fundus examination, bilateral macular epiretinal membranes were found and confirmed by optical coherent tomography. In view of the ophthalmic signs mentioned above and the history of the patient’s father, who suffered from NF2 and died from meningioma and ependymoma, the patient was referred for genetic examination. Seventeen exons of the NF2 gene were tested with negative results. No pathology was found on clinical neurologic examination and magnetic resonance imaging of the brain. Although the patient has not met the criteria for NF2, he is now considered as an asymptomatic subject at risk and observed. Lens opacities with epiretinal membranes in children may be regarded as part of the clinical manifestation of NF2.