Li Qian, Liu Guiqin
The Second Clinical Medical College of Jinan University, Shenzhen Eye Hospital, Shenzhen, Guangdong, China.
Shenzhen Eye Hospital, Shenzhen, Guangdong, China.
Front Med (Lausanne). 2025 Aug 7;12:1556494. doi: 10.3389/fmed.2025.1556494. eCollection 2025.
Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannomas, and approximately 40-70% of affected children show ophthalmological involvement. Ophthalmological features may be the first sign of NF2; however, the symptoms associated with ocular lesions are diverse. The onset of NF2 is often obscure, resulting in missed or misdiagnosed cases. 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 a lack of improvement in vision. At birth, a soft mass was noted scattered across the abdominal skin and scalp, which gradually increased in size over time. Ophthalmological examination revealed posterior subcapsular opacity in the right eye and an anterior retinal hamartoma in the left eye. Orbital and cranial magnetic resonance imaging (MRI) indicated that the T1 and T2 signals of multiple structures, including the cone, auditory nerve, trigeminal nerve, left oculomotor nerve, paravertebral, and sublingual region, were more uniform after enhancement. A genetic heterozygous mutation was detected, with no family history of the condition. In addition to this case, we collected and summarized 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 ocular lesions, we aim to improve ophthalmologists' understanding of this disease, thereby reducing the rate of missed diagnoses.
2型神经纤维瘤病（NF2）的特征是双侧前庭神经鞘瘤，约40-70%的患病儿童有眼科受累表现。眼科特征可能是NF2的首发症状；然而，与眼部病变相关的症状多种多样。NF2的发病往往隐匿，导致漏诊或误诊。在此，我们报告一例最初表现为视力差的NF2患儿。该患儿因弱视接受了7年治疗，因视力无改善而转诊至眼科肿瘤科。出生时，发现腹部皮肤和头皮散在有柔软肿块，随时间推移肿块逐渐增大。眼科检查发现右眼后囊下混浊，左眼视网膜前错构瘤。眼眶和头颅磁共振成像（MRI）显示，包括视锥、听神经、三叉神经、左动眼神经、椎旁和舌下区域在内的多个结构在增强后T1和T2信号更为均匀。检测到一个基因杂合突变，且无该病家族史。除该病例外，我们收集并总结了158例公开报道的具有眼科特征的NF2病例。在这些病例中，视力损害、斜视、白内障、视网膜异常和视网膜错构瘤的发生率较高，分别达到64%、38%、25%、23%和16%。通过对NF2眼部病变的临床和影像学特征进行分析和讨论，我们旨在提高眼科医生对该病的认识，从而降低漏诊率。
