角膜绷带镜对复发性翼状胬肉术后角膜上皮愈合和疼痛评分及角膜规则度的影响

目的:研究角膜绷带镜对复发性翼状胬肉患者术后角膜上皮愈合、疼痛程度评分和角膜表面规则度的影响。方法:回顾性病例研究。将2015-09/2017-09就诊于湖州师范学院附属第一医院并行手术治疗的64例64眼复发性翼状胬肉患者,根据术后是否使用角膜绷带镜分组,A组34眼术后配戴1wk角膜绷带镜,B组30眼术后不使用角膜绷带镜。采用荧光素钠角膜染色法评价翼状胬肉患者术后1d和1wk时角膜上皮愈合程度;通过视觉模拟评分法评估患者术后2h,1d,1wk时疼痛程度;采用角膜地形图系统分析术前及术后1mo时角膜表面规则指数、角膜表面不对称指数和角膜散光情况。结果:A组患者术后1d,1wk时角膜上皮愈合评分与B组相比,差异均有统计学意义(P<0.01)。A组患者术后各时间点的疼痛程度评分均明显低于B组,差异均有统计学意义(P<0.01)。A组患者术前角膜表面规则指数、角膜表面不对称指数及角膜散光与B组相比,差异无统计学意义(P>0.05),而术后1mo时角膜表面规则指数、角膜表面不对称指数及角膜散光与B组相比,差异均有统计学意义(P<0.01)。结论:复发性翼状胬肉患者术后配戴角膜绷带镜,有助于角膜上皮愈合,减轻术后刺激症状,改善角膜表面规则度,降低术后角膜散光。

在以前未经治疗的 anisometropic 弱视的屈光参差症大小和视觉赤字

AIM:To assess the quantitative association between anisometropia magnitude(AM) and the losses of resolution and contrast sensitivity;and to exemplify how the function of fusion and stereopsis vary with AM in previously untreated anisometropic amblyopia. METHODS:A total of 57 patients with previously untreated anisometropic amblyopia without strabismus(range:8-35 years),were measured refractive error,best corrected visual acuity(BCVA),fusion and stereopsis,and 48 patients have completed contrast sensitivity function test.AM was determined by dioptric vector addition model,and the amblyopia depth was determined by the difference of BCVA in logMAR units between the amblyopic and fellow eyes.RESULTS:AM was significantly correlated with both amblyopia depth(Pearson R=0.728,P【0.001) and the inter-ocular difference of the area under the log contrast sensitivity function(AULCSF)(R=0.505,P【0.001).Depth of amblyopia and the inter-ocular difference of AULCSF was also significantly correlated(R=0.761,P【0.001).The more severity of amblyopia,the poorer levels of contrast sensitivity.Most pure anisometropes with AM was less than 3.0D retain fusion and some stereopsis,but when AM were more than 3.0D,especially for the anisometropes whose AM was more than 6.0D,fusion and stereopsis function were seriously impaired.CONCLUSION:In the patients with previously untreated anisometropic amblyopia,higher degree of anisometropia is significantly associated with deeper amblyopia,worse contrast sensitivity,fusion and stereopsis functions.

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Objective:To screen mutations in FERM domain-containing protein 7(FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus(XLICN).Methods:Common ophthalmic data and peripheral blood of two Chinese XLICN families(families A and B) were collected after informed consent.Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls.Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction(PCR) products.Results:We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B,and a previously reported splicing mutation c.782G>C(p.R261G) in family A.The mutations were detected in patients and female carriers,while they were absent in other relatives or in the 100 normal controls.Conclusions:Our results expand the spectrum of FRMD7 mutations in association with XLICN,and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

研究目的:对1个Axenfeld-Rieger综合征家系的临床特点及基因突变进行研究,探索Axenfeld-Rieger综合征发病的遗传机制。研究方法:对该Axenfeld-Rieger综合征家系进行全面临床检查,对家系成员应用聚合酶链反应(PCR)扩增PITX2基因和FOXC1基因的所有外显子及相邻内含子,对其产物进行直接测序并对PITX2基因第5个外显子进行克隆测序。选取100名健康者作为对照组,应用PCR扩增PITX2基因第5个外显子并进行直接测序。应用SWISS-MODEL软件对野生型和突变型的PITX2蛋白同源域进行建模分析。重要结论:该Axenfeld-Rieger综合征家系的眼部表型多样,但是各患者的全身系统异常却呈现一致性(见图2;表1)。基因测序结果显示先证者及其他患者均具有PITX2基因杂合突变c.198_201delins TTTCT(p.M66Ifs*133)。尽管PITX2基因突变引起Axenfeld-Rieger综合征已经被广泛证实,但是PITX2基因缺失/插入移码突变引起的Axenfeld-Rieger综合征仅被报道过一次,我们的研究首次在中国人群中揭示了这种罕见的突变方式。