Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families

Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives.The clinical feature analysis included the evaluation of visual acuity,intraocular pressure,slit-lamp anterior segment examination,fundus photography,and spectral domain optical coherence tomography.To identify the mutation responsible for aniridia,targeted next-generation sequencing was used as a beneficial technique.Results A total of 4 mutations were identified,consisting of two novel frameshift mutations(c.314delA,p.K105Sfs*33 and c.838_845dup AACACACC,p.S283Tfs*85),along with two recurring nonsense mutations(c.307C>T,p.R103X and c.619A>T,p.K207*).Complete iris absence,macular foveal hypoplasia,and nystagmus were consistent in these PAX6 haplotype-deficient Chinese aniridia families,while corneal lesions,cataracts,and glaucoma exhibited heterogeneity both among the families and within the same family.Conclusion In our study,two novel PAX6 mutations associated with aniridia were identified in Chinese families,which expanded the phenotypic and genotypic spectrum of PAX6 mutations.We also analyzed the clinical characteristics of PAX6 haplotype deficiency in Chinese aniridia families.

SIRT1 inhibits apoptosis of human lens epithelial cells through suppressing endoplasmic reticulum stress in vitro and in vivo

AIM:To explore the effect of silent information regulator factor 2-related enzyme 1(SIRT1)on modulating apoptosis of human lens epithelial cells(HLECs)and alleviating lens opacification of rats through suppressing endoplasmic reticulum(ER)stress.METHODS:HLECs(SRA01/04)were treated with varying concentrations of tunicamycin(TM)for 24h,and the expression of SIRT1 and C/EBP homologous protein(CHOP)was assessed using real-time quantitative polymerase chain reaction(RT-PCR),Western blotting,and immunofluorescence.Cell morphology and proliferation was evaluated using an inverted microscope and cell counting kit-8(CCK-8)assay,respectively.In the SRA01/04 cell apoptosis model,which underwent siRNA transfection for SIRT1 knockdown and SRT1720 treatment for its activation,the expression levels of SIRT1,CHOP,glucose regulated protein 78(GRP78),and activating transcription factor 4(ATF4)were examined.The potential reversal of SIRT1 knockdown effects by 4-phenyl butyric acid(4-PBA;an ER stress inhibitor)was investigated.In vivo,age-related cataract(ARC)rat models were induced by sodium selenite injection,and the protective role of SIRT1,activated by SRT1720 intraperitoneal injections,was evaluated through morphology observation,hematoxylin and eosin(H&E)staining,Western blotting,and RT-PCR.RESULTS:SIRT1 expression was downregulated in TMinduced SRA01/04 cells.Besides,in SRA01/04 cells,both cell apoptosis and CHOP expression increased with the rising doses of TM.ER stress was stimulated by TM,as evidenced by the increased GRP78 and ATF4 in the SRA01/04 cell apoptosis model.Inhibition of SIRT1 by siRNA knockdown increased ER stress activation,whereas SRT1720 treatment had opposite results.4-PBA partly reverse the adverse effect of SIRT1 knockdown on apoptosis.In vivo,SRT1720 attenuated the lens opacification and weakened the ER stress activation in ARC rat models.CONCLUSION:SIRT1 plays a protective role against TM-induced apoptosis in HLECs and slows the progression of cataract in rats by inhibiting ER stress.These findings suggest a novel strategy for cataract treatment focused on targeting ER stress,highlighting the therapeutic potential of SIRT1 modulation in ARC development.

Corneal subepithelial nerve fibers in type 2 diabetes:potential biomarker of diabetic neuropathy

AIM:To observe the changes in corneal subepithelial nerve fibers(CNFs)and Langerhans cells(LCs)in patients with type 2 diabetes using corneal laser confocal microscopy(CLCM).METHODS:A total of 60 patients(64 eyes),including 40 patients with type 2 diabetes(DM group)and 20 subjects without diabetes(control group)were included with CLCM.Neuron J plugin of Image J software were used for quantitative analysis of CNF length(CNFL),CNF density(CNFD),corneal nerve branch fiber density(CNBD),main branch length density,branch length density,corneal nerve fiber tortuosity(NT)score,and LCs density.An independent samples t-test to analyze the variability between the two groups was performed,and Pearson correlation analysis was used to analyze the relationships between CNF and multiple biochemical indicators in the DM group.The predictive power of CNF for type 2 diabetes was assessed using the receiver operating characteristic(ROC)curve.RESULTS:There were significant differences in the CNFL,CNFD,and main branch length density between two groups.The results of Pearson correlation analysis showed a significant negative correlation between CNFD and the duration of diabetes as well as triglyceride levels and total cholesterol,and a significant positive correlation between CNFD and serum albumin.In addition,the NT score showed a positive correlation and urea nitrogen,similar to the positive correlation observed between LC density and glycosylated hemoglobin(HbA1c)levels.CNFD showed the highest area under the curve(AUC of ROC)value,followed by main branch length density and CNFL.The AUC of the ROC curve under the logistic regression model also demonstrated good predictive values.The cut-off values of CNFD,CNFL,and main branch length density for diabetes showed 31.25,18.85,and 12.56,respectively.CONCLUSION:In patients with type 2 diabetes,there is a notable reduction in both CNFL and CNFD.These measurements can be influenced by various blood biochemical factors.However,the compromised nerve fibers can serve as valuable indicators for predicting the onset of type 2 diabetes and also as biomarkers for detecting diabetic neuropathy and its related complications.

Artificial intelligence in the anterior segment of eye diseases

Ophthalmology is a subject that highly depends on imaging examination.Artificial intelligence(AI)technology has great potential in medical imaging analysis,including image diagnosis,classification,grading,guiding treatment and evaluating prognosis.The combination of the two can realize mass screening of grass-roots eye health,making it possible to seek medical treatment in the mode of“first treatment at the grass-roots level,two-way referral,emergency and slow treatment,and linkage between the upper and lower levels”.On the basis of summarizing the AI technology carried out by scholars and their teams all over the world in the field of ophthalmology,quite a lot of studies have confirmed that machine learning can assist in diagnosis,grading,providing optimal treatment plans and evaluating prognosis in corneal and conjunctival diseases,ametropia,lens diseases,glaucoma,iris diseases,etc.This paper systematically shows the application and progress of AI technology in common anterior segment ocular diseases,the current limitations,and prospects for the future.

Postoperative efficacy,safety,predictability,and visual quality of implantable collamer lens implantation versus small incision lenticule extraction in myopic eyes:a Meta-analysis

AIM:To compare the postoperative efficacy,safety,predictability,and visual quality of implantable collamer lens(ICL)implantation versus small incision lenticule extraction(SMILE)in myopia eyes.METHODS:Pub Med,EMBASE,Web of Science,Cochrane Library and several Chinese databases were searched at May 2021 to select relevant studies in comparison of clinical outcomes between ICL implantation and SMILE for myopia.The primary outcomes were efficacy,safety,and predictability.And the secondary outcomes were postoperative higher-order ocular aberrations(HOAs),modulation transfer function cutoff frequency(MTF),objective scatter index(OSI),contrast sensitivity and a quality of vision(Qo V)questionnaire.RESULTS:A total of 1036 eyes from 10 studies,of which 503 eyes underwent ICL implantation and 533 eyes underwent SMILE,were enrolled in this Meta-analysis.Pooled results revealed that ICL group had a better safety index and post-corrected distance visual acuity(CDVA)(P=0.007,<0.00001,respectively),and a lower percentage of eyes with a postoperative CDVA lost 1 line(P=0.007)than the SMILE group.No significant differences were found in comparison of the other primary outcomes.In the longterm follow-up(>6mo),ICL group had a lower total HOA,coma,and spherical aberration than SMILE group(P=0.003,<0.00001,0.04).Yet higher trefoil was found in ICL group at 6mo after surgery(P=0.003).Additionally,ICL group also had a higher MTF value(P=0.02),and a higher contrast sensitivity score for spatial frequencies of 1.5,6,and 12 cpds(P=0.02,0.005,0.02,respectively).And it also had a lower score of bothersome in Qo V questionnaire than SMILE group(P=0.003).CONCLUSION:ICL implantation and SMILE have similar and comparable outcomes in term of the efficacy and predictability for correcting high myopia.However,ICL group is relatively safer and also has better visual quality in comparison of SMILE group.

Metformin accelerates bone fracture healing by promoting type H vessel formation through inhibition of YAP1/TAZ expression

Due to increasing morbidity worldwide,fractures are becoming an emerging public health concern.This study aimed to investigate the effect of metformin on the healing of osteoporotic as well as normal fractures.Type H vessels have recently been identified as a bone-specific vascular subtype that supports osteogenesis.Here,we show that metformin accelerated fracture healing in both osteoporotic and normal mice.Moreover,metformin promoted angiogenesis in vitro under hypoxia as well as type H vessel formation throughout fracture healing.Mechanistically,metformin increased the expression of HIF-1α,an important positive regulator of type H vessel formation,by inhibiting the expression of YAP1/TAZ in calluses and hypoxia-cultured human microvascular endothelial cells(HMECs).The results of HIF-1αor YAP1/TAZ interference in hypoxia-cultured HMECs using si RNA further suggested that the enhancement of HIF-1αand its target genes by metformin is primarily through YAP1/TAZ inhibition.Finally,overexpression of YAP1/TAZ partially counteracted the effect of metformin in promoting type H vessel-induced angiogenesis-osteogenesis coupling during fracture repair.In summary,our findings suggest that metformin has the potential to be a therapeutic agent for fractures by promoting type H vessel formation through YAP1/TAZ inhibition.

Influence of hypoxia on retinal progenitor and ganglion cells in human induced pluripotent stem cell-derived retinal organoids

AIM:To observe the effect of low oxygen concentration on the neural retina in human induced pluripotent stem cell(hiPSC)-derived retinal organoids(ROs).METHODS:The hiPSC and a three-dimensional culture method were used for the experiments.Generated embryoid bodies(EBs)were randomly and equally divided into hypoxic and normoxic groups.Photographs of the EBs were taken on days 38,45,and 52,and the corresponding volume of EBs was calculated.Simultaneously,samples were collected at these three timepoints,followed by fixation,sectioning,and immunofluorescence.RESULTS:The proportion of Ki67-positive proliferating cells increased steadily on day 38;this proliferationpromoting effect tended to increase tissue density rather than tissue volume.On days 45 and 52,the two groups had relatively similar ratios of Ki67-positive cells.Further immunofluorescence analysis showed that the ratio of SOX2-positive cells significantly increased within the neural retina on day 52(P<0.05).In contrast,the percentage of PAX6-and CHX10-positive cells significantly decreased following hypoxia treatment at all three timepoints(P<0.01),except for CHX10 at day 45(P>0.05).Moreover,the proportion of PAX6-/TUJ1+cells within the neural retinas increased considerably(P<0.01,<0.05,<0.05 respectively).CONCLUSION:Low oxygen promotes stemness and proliferation of neural retinas,suggesting that hypoxic conditions can enlarge the retinal progenitor cell pool in hiPSC-derived ROs.

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

Clinical study of customized aspherical intraocular lens implants

AIM:To compare if there is an improvement in visual functions with age-related cataracts between patients receiving a aspherical intraocular lens(IOL) based on corneal wavefront aberration and patients randomly assigned lenses.METHODS:A total of 124 eyes of 124 patients with age-related cataracts were placed in experimental group and a group receiving randomly assigned(RA) lenses.The experimental group was undergone Pentacam corneal spherical aberration measurement before surgery; the targeted range for residual total spherical aberration after surgery was set to 0-0.3 μm. Patients with a corneal spherical aberration 【0.3 μm were implanted with a zero-spherical aberration advanced optics(AO) aspherical IOL and patients with an aberration ≥0.3 μm received a Tecnis Z9003 aspherical lens in experimental group. RA patients were randomly implanted with an AO lens or a Tecnis Z9003 lens. Three months after surgery total spherical aberration, photopic/mesopic contrast sensitivities, photopic/mesopic with glare contrast sensitivities, and logMAR vision were measured.RESULTS:Statistical analysis on logMAR vision showed no significant difference between two groups(P =0.413). The post-surgical total spherical aberration was 0.126 ±0.097 μm and 0.152 ±0.151 μm in the experimental and RA groups, respectively(P =0.12). The mesopic contrast sensitivities at spatial frequencies of 6,12 and 18 c/d in the experimental group were significantly higher than of the RA group(P =0.00; P =0.04;P =0.02). The mesopic with glare contrast sensitivity in the experimental group at a spatial frequency of 18 c/d was also significantly higher vs the RA group(P =0.01).CONCLUSION:Pre-surgical corneal spherical aberration measurement in cataract patients followed bycustomized selection of aspherical IOL implants improved mesopic contrast sensitivities at high spatial frequencies, and thus is a superior strategy compared to the random selection of aspherical intraocular lens implants.

Effect of Aβ protein on inhibiting proliferation and promoting apoptosis of retinal pigment epithelial cells

AIM： To identify the effect and regulatory mechanism of amyloid β （Aβ） protein on retinal pigment epithelial （RPE） cells in cell proliferation and apoptosis, and clarify Aβ role in the pathogenesis of age-related macular degeneration （AMD）. METHODS： The model of Aβ25-35 protein cytotoxicity in RPE cell was successfully established to investigate the effect of Aβ protein on RPE cells in vitro. Based on Aβ protein, the specific inhibitors （HY-50682 or BAY11-7082） or activating agent （lipopolysaccharide） was used to analyze the regulatory mechanism of Aβ protein to RPE cells on cell proliferation and apoptosis by flow cytometry, real-time polymerase chain reaction, Western blotting, enzyme-linked immunosorbent assay and dual-luciferase reporter gene assay. RESULTS： The number of RPE cells, treated with Aβ25-35 from 0.3 to 60 μmol/L, significantly reduce （P〈0.01）, and had the dose-dependent effect. Aβ protein 60 μmol/L inhibits the G1/S phase transition （P〈0.01） and down-regulated cyclin E mRNA level （P〈0.01）. Similarly, Aβ25-35 induced a significant increase of cell apoptosis, accompanied by the significantly higher level of activated caspase 3 protein. Furthermore, nuclear factor-kappaB （NF-κB） activity and hosphorylated Iκ-Ba level would significantly lower in treated RPE cells. Using specific inhibitors or activating agent based on the Aβ, the cell numbers, NF-κB activity, phosphorylated Iκ-Ba level, receptor for advanced glycation endproducts （RAGE） gene expression levels, cyclin E mRNA level and activated caspase 3 level had accordingly changed by different methods, confirming that RAGE/NF-κB signaling pathway involved in the regulation of Aβ protein on RPE cell apoptosis and proliferation. CONCLUSION： Aβ protein inhibits cell proliferation and activates apoptosis via inactivation of the RAGE/NF-κB signaling pathway in RPE cell.

Effect of cooling parameters on the microstructure and properties of Mo-bearing and Cr-bearing steels

To develop low-cost low carbon bainitic steel,Mo-bearing and Cr-bearing steels were melted in a vacuum induction furnace and were researched by thermal simulation and hot rolling at the laboratory.As the cooling rate increases from 0.2 to 50°C/s,the transformation temperatures of two steels lie between 650 and 400°C,and the final microstructures of them change from quasi-polygonal ferrite and granular bainite to lath bainite.Compared with cooling in air or by interrupted cooling,Mo-bearing and Cr-bearing steel plates cooled by sprayed water boast higher strength and superior toughness,for large-size islands are responsible for the poor mechanical properties.Compared to Mo,Cr is effective to isolate the bainitic reaction in low carbon steel,and the bainitic microstructure can also be obtained in Cr-bearing steel cooled at a wide range of cooling rate.

Evaluation of immersion 20 MHz B-scan ultrasonography in observing lens in the alkali burn eyes

·AIM: To evaluate the accuracy of 20 MHz immersion Bscan ultrasonography in observing lens and to investigate the value of this noninvasive preoperative diagnosis method in alkali burn eyes.·METHODS: It was a comparative study. Fifty-six cases(56 eyes) of alkali burn eyes were examined by ultrasound biomicroscopy(UBM) and immersion 20 MHz B-scan ultrasonography from June 2011 to April 2013,the images were analyzed, and the ultrasonographic diagnosis compared with the operation results.·RESULTS: In 56 alkali burn eyes examined by UBM, the lens were not detected in 16 eyes; the IOL could be detected in 2 eyes; the anterior lens capsule surface or/and the front lens could be detected in 18 eyes, and lens opacification in 3 eyes of them; suspected abnormal lens were detected in the other 20 eyes. In all the same eyes examined by immersion 20 MHz B-scan ultrasonography,the lens were not detected in 16 eyes; the IOL could be detected in 2 eyes; 24 abnormal lens(opacity, lens expansion, shrinkage) and 14 normal lens were found.Compared with the intraoperative findings, the diagnostic accordance rate of the immersion 20 MHz B-scan appearance of lens was 100%(56/56), which was significantly higher than examined by UBM 57.14%(32/56)(χ2=30.55, P =0.0000).·CONCLUSION: Immersion 20 MHz B-scan ultrasonography can observe the lens accurately in alkali burn eyes. It has important clinical value to combine with UBM in eyes of alkali burn.

Development and calibration of the Moon-based EUV camera for Chang'e-3

The process of development and calibration for the first Moon-based ex- treme ultraviolet （EUV） camera to observe Earth＇s plasmasphere is introduced and the design, test and calibration results are presented. The EUV camera is composed of a multilayer film mirror, a thin film filter, a photon-counting imaging detector, a mech- anism that can adjust the direction in two dimensions, a protective cover, an electronic unit and a thermal control unit. The center wavelength of the EUV camera is 30.2 nm with a bandwidth of 4.6nm. The field of view is 14.7° with an angular resolution of 0.08°, and the sensitivity of the camera is 0.11 count s-1 Rayleigh-1. The geomet- ric calibration, the absolute photometric calibration and the relative photometric cal- ibration are carried out under different temperatures before launch to obtain a matrix that can correct geometric distortion and a matrix for relative photometric correction, which are used for in-orbit correction of the images to ensure their accuracy.

Accuracy of segmented measurement of axial length in ultra-high myopia filled with silicone oil using immersion B-scan ultrasonography

AIM:To evaluate the accuracy of segmented measurement of axial length(AL)in high myopia filled with silicone oil by immersion B-scan ultrasonography(immersion B-scan).METHODS:From June 2016 to June 2020,a total of 67 ultra-high myopia inpatients(67 eyes)who underwent silicone oil removal combined with cataract extraction and intraocular lens(IOL)implantation were retrospectively enrolled.The preoperative axial length(AL)of 31 patients with severe cataract were segmented measured using immersion B-scan(B-scan group)and another 36 patients with mild or moderate cataract were measured using IOLMaster 500(IOLMaster group).The post-operative ALs in two groups were both measured using IOLMaster 500.The IOL power was calculated with Haigis formula.The differences in ALs between pre-and post-surgery,as well as the postoperative refractive spherical equivalent,absolute refractive error,the prediction deviation of postoperative refraction and best corrected visual acuity(BCVA)were compared.RESULTS:The pre-and post-operative ALs were 30.46±1.63 mm(range 28.09-33.51 mm)and 30.42±1.70 mm(range 28.03-33.90 mm)in B-scan group(t=0.644,P=0.542)and 30.51±1.21 mm(range 28.03-33.90 mm)and 30.43±1.27 mm(range 28.54-33.50 mm)in IOLMaster group(t=1.843,P=0.074),respectively.Three months after surgery,BCVA were 0.45±0.13(range 0.3-0.9)and 0.44±0.20(range 0.2-1.0)in B-scan and IOLMaster group respectively(t=0.086,P=0.932).There was no significant difference of the postoperative spherical equivalent(-3.11±0.65 D vs-3.21±0.51 D,t=0.671,P=0.505)and the absolute refractive error(0.589±0.340 vs 0.470±0.245 D,t=1.615,P=0.112)between two groups.In B-scan group,absolute refractive error within±0.50 D was found in 18 eyes(58.1%),within±1.00 D in 26 eyes(83.9%),and within±1.50 D in 31 eyes(100%).In IOLMaster group,absolute refractive error within±0.50 D was found in 23 eyes(63.9%),within±1.00 D in 34 eyes(94.4%),and within±1.50 D in 36 eyes(Z=0.757,P=0.449).CONCLUSION:The segmented measurement of ALs by immersion B-scan shows comparable measurement accuracy with that of IOLMaster 500 in ultra-high myopia patients with severe cataract secondary to silicone oil filling and can obtain an ideal postoperative refractive state.

A Photon-Counting Full-Waveform Lidar

We present the results of using a photon-eounting full-waveform lidar to obtain detailed target information with high accuracy.The parameters of the waveforms(i.e.,vertical structure,peak position,peak amplitude,peak width and backscatter cross section)are derived with a high resolution limit of 31 mm to establish the vertical structure and scattering properties of targets,which contribute to the recognition and classification of various scatterers.The photon-counting full-waveform lidar has higher resolution than linear-mode full-waveform lidar,and it can obtain more specific target information compared to photon-counting discrete-point lidar,which can provide a potential alternative technique for tomographic surveying and mapping.

Graphene oxide wrapped magnetic nanoparticle composites induced by SiO_(2) coating with excellent regenerability

Graphene oxide(GO)wrapped Fe_(3)O_(4) nanoparticles(NPs)were prepared by coating the Fe_(3)O_(4) NPs with a SiO_(2) layer,and then modifying by amino groups,which interact with the GO nanosheets to form covalent bonding.The SiO_(2) coating layer plays a key role in integrating the magnetic nanoparticles with the GO nanosheets.The effect of the amount of SiO_(2) on the morphology,structure,adsorption,and regenerability of the composites was studied in detail.An appropriate SiO_(2) layer can effectively induce the GO nanosheets to completely wrap the Fe_(3)O_(4) NPs,forming a core-shell Fe_(3)O_(4)@SiO_(2)@GO composite where Fe_(3)O_(4)@SiO_(2) NPs are firmly encapsulated by GO nanosheets.The optimized Fe_(3)O_(4)@SiO_(2)@GO sample exhibits a high saturated adsorption capacity of 253 mg·g^(-1) Pb(Ⅱ)cations from wastewater,and the adsorption process is well fitted by Langmuir adsorption model.Notably,the composite displays excellent regeneration,maintaining a~90%adsorption capacity for five cycles,while other samples decrease their adsorption capacity rapidly.This work provides a theoretical guidance to improve the regeneration of the GO-based adsorbents.

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families

AIM:To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy(ad CORD)patients from two Chinese families with cone-rod homeobox(CRX)mutation(p.R41W),and to explore the clinical heterogeneity of ad CORD with CRX mutation(p.R41W).METHODS:Interrogation and ophthalmological examinations were undertaken in all patients and unaffected members.Analysis of clinical features was performed by visual acuity,slit lamp examination,visual field examination,fundoscopy,autofluorescence and spectral domain optical coherence tomography.Targeted next-generation sequencing was applied as a useful tool to identify the causative mutation of CORD genes.RESULTS:A CRX missense mutation c.121C>T was identified in all patients,resulting in an amino acid change from arginine acid to tryptophan(p.R41W).The patients presented with early onset,progressive and different severities with CORD.CONCLUSION:This is the first report of the clinical phenotype of CRX mutation(p.R41W)in Chinese families,and the mutation can lead to a wide range of various retinal phenotypes.

两种联合手术方式治疗急性闭角型青光眼合并白内障的疗效比较

目的:探讨超声乳化白内障吸除人工晶状体植入联合房角分离术治疗原发性急性闭角型青光眼(acute primary angle-closure glaucoma,APACG)合并白内障的临床疗效。方法:前瞻性随机对照研究。选择符合入组条件的急性闭角型青光眼合并白内障患者60例60眼,随机分为对照组和研究组;对照组行白内障超声乳化吸除、人工晶状体植入联合小梁切除术(30眼),研究组行白内障超声乳化吸除、人工晶状体植入联合房角分离术(30眼),比较两种术式的临床疗效。结果:术前两组视力、眼压、中央前房深度、房角开放程度差异无统计学意义(P>0.05);术后2mo两组视力、眼压、中央前房深度、房角开放程度均明显比术前改善,差异有统计学意义(P<0.001);研究组术后视力、中央前房深度、房角开放程度,均优于对照组,差异有统计学意义(P<0.05);两组术后眼压及并发症相比,研究组优于对照组,但差异无统计学意义(P>0.05)。结论:白内障超声乳化人工晶状体植入联合房角分离术,对APACG合并白内障患者视力的提高、眼压的控制有着积极的临床效果。

Accuracy of axial length measurements from immersion B-scan ultrasonography in highly myopic eyes

AIM:To evaluate the accuracy of axial length(AL)measurements obtained from immersion B-scan ultrasonography(immersion B-scan)for intraocular lens(IOL)power calculation in patients with high myopia and cataracts.METHODS:Immersion B-scan,contact A-scan ultrasonography(contact A-scan),and the IOLMaster were used to preoperatively measure the AL in 102 eyes from 102 patients who underwent phacoemulsification and IOL implantation.Patients were divided into two groups according to the AL:one containing patients with22 mm≤AL【26 mm(group A)and the other containing patients with AL≥26 mm(group B).The mean error(ME)was calculated from the difference between the AL measurement methods predicted refractive error and the actual postoperative refractive error.RESULTS:Ingroup A,ALs measured byimmersion Bscan(23.48±1.15)didn’t differ significantly from those measured by the IOLMaster(23.52±1.17)or from those by contact A-scan(23.38±1.20).In the same group,the standard deviation(SD)of the mean error(ME)of immersion B-scan(-0.090±0.397 D)didn’t differ significantly from those of IOLMaster(-0.095±0.411 D)and contact A-scan(-0.099±0.425 D).In group B,ALs measured by immersion B-scan(27.97±2.21 mm)didn’t differ significantly from those of the IOLMaster(27.86±2.18 mm),but longer than those measured by Contact A-scan(27.75±2.23 mm,P=0.009).In the same group,the standard deviation(SD)of the mean error(ME)of immersion B-scan(-0.635±0.157 D)didn’t differ significantly from those of the IOLMaster(-0.679±0.359 D),but differed significantly from those of contact A-scan(-0.953±1.713 D,P=0.028).CONCLUSION:ImmersionB-scanexhibitsmeasurement accuracy comparable to that of the IOLMaster,and is thus a good alternative in measuring AL in eyes with high myopia when the IOLMaster can’t be used,and it is more accurate than the contact A-scan.

Phenotype of Usher syndrome type Ⅱ assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

·AIM: To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II(USH2).· METHODS: The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect,exons of 103 known RDs-associated genes including 12 Usher syndrome(USH) genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction(PCR) and Sanger sequencing.·RESULTS: The patient in the family occurred hearing loss(HL) and retinitis pigmentosa(RP) without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C 】T and c.1969 C 】T, in the MYO7 A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls.· CONCLUSION: We suggested that the compound heterozygous mutations of the MYO7 A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7 A and expanded the spectrum of clinical phenotypes of the MYO7 A mutations.