Cao Wenhong, Wei Wenbin, Wu Qian
Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, National Key Discipline of Pediatrics, Capital Medical University, Beijing, China.
Beijing Tongren Eye Center, Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
BMJ Open Ophthalmol. 2018 Nov 17;3(1):e000180. doi: 10.1136/bmjophth-2018-000180. eCollection 2018.
To evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO).
27 Chinese TCIRG1-related osteoporosis infants were enrolled using direct DNA sequencing of PCR-amplified exons. 12 cases had frameshift mutation (the frameshift mutation group, group F), and 15 cases had point mutation (the point mutation group, group P). The clinical features of the two groups were compared, including age at onset, gaze qualities, optic atrophy, optic canal stenosis and waveforms of Flash visual-evoked potential (FVEP).
The clinical signs, except age at onset and FVEP, showed statistically significant differences between the two groups. The mean age at onset was 1.8 months in group F and 4.3 months in group P; 22 eyes (92%) with frameshift mutation and 16 (53%) with point mutation had poor gaze qualities, such as nystagmus and/or strabismus; optic atrophy was found in 16 eyes (67%) in group F and 6 (20%) in group P; the average optic canal diameter was 1.45 mm in the frameshift mutation cases, 1.87 mm in other cases; FVEP indicated that the waveforms in 10 eyes (42%) were not elicited in group F, yet five eyes (17%) in group P.
In Chinese TCIRG1-related patients of IMO, the optic canal stenosis and optic atrophy were more serious in cases with frameshift mutations. However, no differences in the conduction block of optic nerve were found between the two groups.
评估中国婴儿恶性骨硬化症（IMO）患者中与T细胞免疫调节因子1（TCIRG1）突变相关的眼科表型。
采用PCR扩增外显子的直接DNA测序法，纳入27例中国TCIRG1相关骨质疏松症婴儿。12例发生移码突变（移码突变组，F组），15例发生点突变（点突变组，P组）。比较两组的临床特征，包括发病年龄、注视质量、视神经萎缩、视神经管狭窄和闪光视觉诱发电位（FVEP）波形。
除发病年龄和FVEP外，两组临床体征差异有统计学意义。F组平均发病年龄为1.8个月，P组为4.3个月；12例（92%）移码突变和16例（53%）点突变患者存在眼球震颤和/或斜视等注视质量差的情况；F组16只眼（67%）出现视神经萎缩，P组6只眼（20%）出现视神经萎缩；移码突变病例的平均视神经管直径为1.45毫米，其他病例为1.87毫米；FVEP显示，F组10只眼（42%）未引出波形，P组5只眼（17%）未引出波形。
在中国TCIRG1相关的IMO患者中，移码突变患者的视神经管狭窄和视神经萎缩更严重。然而，两组视神经传导阻滞无差异。
