Neurofibromatosis Type 2 misdiagnosed as amblyopia: A case report and literature review

Qian Li¹Guiqin Liu^2*

• ¹The Second Clinical Medical College, Jinan University, Shen zhen, China
• ²Shenzhen Eye Hospital, Shenzhen, China

Neurofibromatosis Type 2 (NF2) is characterized by bilateral vestibular schwannoma, and approximately 40%-70% of affected children show ophthalmological involvement. Ophthalmological features may be the first sign of NF2; however, the symptoms associated with eye lesions are diverse. The onset of NF2 is often obscure, resulting in missed or misdiagnosis. Herein, we report a case of NF2 in a child who initially presented with poor eyesight. The child had been treated for amblyopia for 7 years and was referred to the eye oncology department due to lack of improvement in vision. At birth, a soft mass scattered across the abdominal skin and scalp was noted, and it gradually became larger over time. Ophthalmological examination revealed posterior subcapsular opacity in the right eye, with anterior retinal hamartoma in the left eye. Orbital and cranial MRI indicated that the T1 and T2 signals of multiple structures, including the cone, auditory nerve, trigeminal nerve, left oculomotor nerve, paravertebra, and sublingual region, were more uniform after enhancement. A genetic heterozygous mutation was detected, with no family history. In addition to this case, we have collected and summarized the 158 publicly reported cases of NF2 with ophthalmological characteristics. Among these cases, the incidence of visual impairment, strabismus, cataract, retinal anomaly, and retinal hamartoma was high, reaching 64%, 38%, 25%, 23%, and 16% respectively. Through analysis and discussion of the clinical and imaging characteristics of NF2 eye lesions, we aim to improve ophthalmologists' understanding of this disease to reduce the rate of missed diagnosis.