PDF(Pubmed)
Abstract：
UNASSIGNED: To evaluate adult-onset neuronal intranuclear inclusion disease (NIID)-related retinopathy with guanine-guanine-cytosine repeat expansions in NOTCH2NLC.
UNASSIGNED: Neuro-ophthalmic evaluations, including best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure (IOP), ultrasound biomicroscopy, pupillometry, fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), Humphrey visual field, full-field electroretinography (ERG), and multifocal ERG (mf-ERG) were performed in patients with gene-proven NIID.
UNASSIGNED: Nine patients (18 eyes) were evaluated, with a median age of 62 years (55-68) and only one man was included in our study. Six patients presented with decreased visual acuity or night blindness, whereas the other three were asymptomatic. The visual acuity was measured from 20/200 to 20/20. Miosis was present in eight patients, four of whom had ciliary process hypertrophy and pronation, and three of whom had shallow anterior chambers. Fundus photography, FAF, and OCT showed consistent structural abnormalities mainly started from peripapillary areas and localized in the outer layer of photoreceptors and inner ganglion cell layer. ERG and mf-ERG also revealed retinal dysfunction in the corresponding regions.
UNASSIGNED: Patients with NIID showed both structural and functional retinopathies which were unique and different from common cone-rod dystrophy or retinitis pigmentosa. Patients with miosis may have a potential risk of an angle-closure glaucoma attack. Neuro-ophthalmic evaluations is essential for evaluating patients with NIID, even without visual symptom.
UNASSIGNED: Neuro-ophthalmic evaluations, including best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure (IOP), ultrasound biomicroscopy, pupillometry, fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), Humphrey visual field, full-field electroretinography (ERG), and multifocal ERG (mf-ERG) were performed in patients with gene-proven NIID.
UNASSIGNED: Nine patients (18 eyes) were evaluated, with a median age of 62 years (55-68) and only one man was included in our study. Six patients presented with decreased visual acuity or night blindness, whereas the other three were asymptomatic. The visual acuity was measured from 20/200 to 20/20. Miosis was present in eight patients, four of whom had ciliary process hypertrophy and pronation, and three of whom had shallow anterior chambers. Fundus photography, FAF, and OCT showed consistent structural abnormalities mainly started from peripapillary areas and localized in the outer layer of photoreceptors and inner ganglion cell layer. ERG and mf-ERG also revealed retinal dysfunction in the corresponding regions.
UNASSIGNED: Patients with NIID showed both structural and functional retinopathies which were unique and different from common cone-rod dystrophy or retinitis pigmentosa. Patients with miosis may have a potential risk of an angle-closure glaucoma attack. Neuro-ophthalmic evaluations is essential for evaluating patients with NIID, even without visual symptom.
摘要：
■评估NOTCH2NLC中鸟嘌呤-鸟嘌呤-胞嘧啶重复扩增的成人发作的神经元核内包涵体病（NIID）相关视网膜病变。
■神经眼科评估，包括最佳矫正视力,裂隙灯生物显微镜，眼内压（IOP），超声生物显微镜,瞳孔测量,眼底摄影,眼底自发荧光（FAF），光学相干断层扫描(OCT),Humphrey视野,全场视网膜电图（ERG），在基因证实为NIID的患者中进行多灶性ERG（mf-ERG）。
■对9名患者（18只眼）进行了评估，中位年龄为62岁(55-68岁),仅一名男性被纳入本研究.六名患者出现视力下降或夜盲症，而其他三人无症状。视敏度测量为20/200至20/20。八名患者出现了杂乱，其中四人有睫状突肥大和内旋，其中三个前房浅。眼底摄影,FAF,和OCT显示一致的结构异常主要从乳头周围区域开始，并位于光感受器的外层和内神经节细胞层。ERG和mf-ERG也显示了相应区域的视网膜功能障碍。
■NIID患者表现出独特的结构性和功能性视网膜病变，与普通的锥棒营养不良或色素性视网膜炎不同。瞳孔缩小患者可能有闭角型青光眼发作的潜在风险。神经眼科评估对于评估NIID患者至关重要，即使没有视觉症状.
■神经眼科评估，包括最佳矫正视力,裂隙灯生物显微镜，眼内压（IOP），超声生物显微镜,瞳孔测量,眼底摄影,眼底自发荧光（FAF），光学相干断层扫描(OCT),Humphrey视野,全场视网膜电图（ERG），在基因证实为NIID的患者中进行多灶性ERG（mf-ERG）。
■对9名患者（18只眼）进行了评估，中位年龄为62岁(55-68岁),仅一名男性被纳入本研究.六名患者出现视力下降或夜盲症，而其他三人无症状。视敏度测量为20/200至20/20。八名患者出现了杂乱，其中四人有睫状突肥大和内旋，其中三个前房浅。眼底摄影,FAF,和OCT显示一致的结构异常主要从乳头周围区域开始，并位于光感受器的外层和内神经节细胞层。ERG和mf-ERG也显示了相应区域的视网膜功能障碍。
■NIID患者表现出独特的结构性和功能性视网膜病变，与普通的锥棒营养不良或色素性视网膜炎不同。瞳孔缩小患者可能有闭角型青光眼发作的潜在风险。神经眼科评估对于评估NIID患者至关重要，即使没有视觉症状.
