罕见视网膜病变1例

A case of rare retinopathy

患者女性,70岁,主诉双眼视物模糊7年,缓慢加重。伴夜盲、记忆力下降、认知功能障碍4年,尿潴留1年。检查发现双眼慢性进展性视网膜变性,累及内层的神经纤维层、节细胞层和外层的椭圆体带、外核层、外丛状层,同时存在瞳孔缩小、浅前房等闭角型青光眼倾向。颅脑磁共振T2 flair提示双侧脑白质高信号。皮肤活检病理显示汗腺上皮细胞胞核内的嗜酸性包涵体,且抗p62抗体免疫组化染色阳性。基因检测提示NOTCH2NLC基因三核苷酸CGG重复扩增数高达119次。最终诊断:(成人型)神经元核内包涵体病(NIID)相关视网膜病变。讨论体会:眼科医师对于NIID患者应进行细致的视网膜结构与功能检查;而对于具有典型眼底改变合并小瞳孔及全身多系统异常的患者,也应考虑NIID的可能性,以尽早明确诊断。

A 70-year-old woman complained of blurred vision in both eyes for 7 years.The symptoms slowly progressed accompanied by night blindness,memory loss,cognitive dysfunction in the last 4 years,and urinary retention in recent 1 year.Examination revealed chronic progressive retinal degeneration in both eyes,involving the inner nerve fiber layer and ganglion cell layer,outer ellipsoid band,outer nuclear layer,and outer plexiform layer,as well as a tendency for angle closure glaucoma caused by miosis and shallow anterior chamber.Magnetic resonance T2 flair imaging revealed hyperintensities in bilateral cerebral white matter.Skin biopsy pathology showed eosinophilic inclusion bodies in the nuclei of sweat gland epithelial cells and positive immunohistochemical staining for anti-p62 antibodies.Genetic testing revealed 119 repeat amplifications of trinucleotide CGG on the NOTCH2NLC gene.She was finally diagnosed with neuronal intranuclear inclusion disease(NIID)associated retinopathy(adult type).Discussion:Ophthalmologists should perform detailed retinal structural and functional examination in NIID patients;and the possibility of NIID should be considered in patients with typical fundus changes combined with small pupils and multisystemic abnormalities to confirm early diagnosis.