AIM:To evaluate the effects of antiglaucoma eye drops on corneal nerves by in vivo confocal microscopy(IVCM).METHODS:This study comprised 79 patients diagnosed with glaucoma and 16 healthy control individuals.Among th...AIM:To evaluate the effects of antiglaucoma eye drops on corneal nerves by in vivo confocal microscopy(IVCM).METHODS:This study comprised 79 patients diagnosed with glaucoma and 16 healthy control individuals.Among the glaucoma patients,54 were treated with medication,while 25 remained untreated.Central corneal images were evaluated by IVCM,and then ACCMetrics was used to calculate the following parameters:corneal nerve fiber density(CNFD),branch density(CNBD),fiber length(CNFL),total branch density(CTBD),fiber area(CNFA),fiber width(CNFW),and fractal dimension(CNFrD).The correlation between IVCM parameters and drugs was evaluated using non-parametric measurements of Spearman’s rank correlation coefficient.RESULTS:The CNFD was reduced in glaucoma groups compared to healthy subjects(P<0.01).Patients using anti-glaucoma medications exhibited poorer confocal parameters compared to untreated patients.As the number of medications and usage count increased,CNFD,CNBD,CNFL,CTBD,CNFA,and CNFrD experienced a decline,while CNFW increased(all P<0.01).For the brinzolamide-therapy group,there was a significant decrease in CNFD and CNFL compared to the other monotherapy groups(P<0.001).In the absence of medication,CNFD in males was lower than that in females(P<0.05).Among patients under medication therapy,CNFD remained consistent between males and females.CONCLUSION:Antiglaucoma eye drops affect the microstructure of corneal nerves.IVCM and ACCMetrics are useful tools that could be used to evaluate the corneal nerve changes.展开更多
AIM： To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome （ARS） and characterize the molecular defect in PITX2 in the family. METHODS： Patients presented with typical ARS from a Chin...AIM： To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome （ARS） and characterize the molecular defect in PITX2 in the family. METHODS： Patients presented with typical ARS from a Chinese family were investigated. We performed genome- wide linkage scan and exome sequencing to identify the pathogenic mutations, Candidate mutations were verified for co-segregation in the whole pedigree using Sanger sequencing, Real-time polymerase chain reaction （RT- PCR） and Western blotting were performed to verify the expression of the pathogenic gene. RESULTS： Genome-wide linkage and exome sequencing analyses showed PITX2 as the disease candidate gene. A〉G substitution at position -11 of 3＇ss of exon 5 （IVS5- 11A〉G） that co-segregated with the disease phenotype was discovered in the family. The PITX2 messenger ribonucleic acid and protein levels were about 50% lower in patients with ARS than in unaffected family members in the family, CONCLUSION： Our findings implicate the first intronic mutation of the PITX2 gene in the pathogenesis of a severe form of ARS in a Chinese family. This study highlights the importance of a systematic search for intronic mutation in ARS cases for which no mutations in the exons of PITX2 have been found.展开更多
AIM：To determine the epidemiological characteristics,clinical signs,laboratory findings,and outcomes in patients with corneal infection in Shandong peninsula of China.·METHODS：The medical records of 578 inpatie...AIM：To determine the epidemiological characteristics,clinical signs,laboratory findings,and outcomes in patients with corneal infection in Shandong peninsula of China.·METHODS：The medical records of 578 inpatients（578eyes）with corneal infection were reviewed retrospectively for demographic characteristics,risk factors,seasonal variation,clinical signs,laboratory findings,and treatment strategy.Patient history,ocular examination findings using slit-lamp biomicroscopy,laboratory findings resulted from microbiological cultures,and treatment.·RESULTS：Fungal keratitis constituted 58.48%of cases of infectious keratitis among the inpatients,followed by herpes simplex keratitis（20.76%）,bacterial keratitis（19.03%）and acanthamoeba keratitis（1.73%）.The most common risk factor was corneal trauma（71.80%）.The direct microscopic examination（338 cases）using potassium hydroxide（KOH）wet mounts was positive in296 cases（87.57%）.Among the 298 fungal culturepositive cases,Fusarium species were the most common isolates（70.47%）.A total of 517 cases（89.45%）received surgical intervention,including 255（44.12%）cases of penetrating keratoplasty,74（12.80%）cases of lamellar keratoplasty which has become increasingly popular,and77 cases（13.32%）of evisceration or enucleation.·CONCLUSION：At present,infectious keratitis is a primary corneal disease causing blindness in China.With Fusarium species being the most commonly identified pathogens,fungal keratitis is the leading cause of severe infectious corneal ulcers in Shandong peninsula of China.展开更多
AIM: To provide statistical evidence for the use of antibiotics in ophthalmology by assessing the distribution and antibiotic sensitivity of bacterial isolates from ocular specimens with suspected microbial infections...AIM: To provide statistical evidence for the use of antibiotics in ophthalmology by assessing the distribution and antibiotic sensitivity of bacterial isolates from ocular specimens with suspected microbial infections.METHODS: This study applied a retrospective analysis of 3690 bacterial isolates from ocular specimens, which were obtained from the conjunctiva, cornea, aqueous humor, vitreous body, and other ocular sites of the patients at Shandong Eye Institute in northern China from January 2013 to December 2017. The parameters assessed mainly included the distribution of isolated bacteria and the results of susceptibility tests for antibiotics. In the analysis of antibiotic sensitivities, the bacteria were divided into four groups according to gram staining, and statistical methods were used to compare their antibiotic sensitivities. RESULTS: Among the 3690 isolated bacterial strains, Staphylococcus epidermidis(2007, 54.39%) accounted for the highest proportion. As for the total isolates, their sensitivity rate to gatifloxacin was up to 90.01%, with four types of gram-stained bacteria being all highly sensitive to it, but their sensitivity rate to levofloxacin was only 51.91%. The sensitivity rate of gram-negative bacilli(G-B) to levofloxacin was 83.66%, significantly higher than the other three types of gram-stained bacteria(P<0.05). Gram-positive cocci (G+C, 97.95%) and gram-positive bacilli(G+B, 97.54%) were more sensitive to vancomycin than gram-negative cocci(G-C, 70.59%) and G-B(68.57%;P<0.05). For fusidic acid, the sensitivity rates of G+C(89.83%) and G+B(73.37%) were significantly higher than that of G-B(29.83%;P<0.05). The gram-negative bacteria's sensitivity rate to cefuroxime was as low as 59.25%, but only G-B was less sensitive to cefuroxime(57.28%), while G-C was still highly sensitive(89.29%). The sensitivity rate of gram-positive bacteria to moxifloxacin was as high as 80.28%, but only G+C was highly sensitive to moxifloxacin(81.21%), while G+B was still less sensitive(32.00%). CONCLUSION: Staphylococcus epidermidis is the predominant isolate in all ocular specimens with bacteria. Gatifloxacin is more suitable for topical prophylactic use than levofloxacin in ophthalmology when necessar y. Vancomycin and fusidic acid both have better effects on gram-positive bacteria than gram-negative bacteria. More accurate antibiotic sensitivity analysis results can be obtained when a more detailed bacterial classification and more appropriate statistical methods are performed.展开更多
AIM:To investigate the association of axial length(AL),lens thickness(LT),and lens vault(LV)with postoperative anterior chamber angle metrics after laser peripheral iridotomy(LPI).METHODS:Prospective observational stu...AIM:To investigate the association of axial length(AL),lens thickness(LT),and lens vault(LV)with postoperative anterior chamber angle metrics after laser peripheral iridotomy(LPI).METHODS:Prospective observational study of 69 patients(97 eyes)were diagnosed as primary angle-closure suspect(PACS),primary angle closure(PAC)or primary angle-closure glaucoma(PACG).AL,LT,anterior central chamber depth(ACD),angle opening distance(AOD),trabecular iris angle(TIA),and angle recess area(ARA)were measured before and 1 wk after LPI.The association between AL,LT,LV with ACD,AOD,TIA,ARA were analyzed by comparing the differences between preoperative and postoperative measurements for anterior segment biometric parameters.RESULTS:ACD,AOD,TIA,and ARA were significantly increased after LPI(all P<0.05).Greater LT was significantly associated with greater postoperative increases in ACD,AOD,TIA,and ARA(all P<0.05).AL was not significantly associated with changes of anterior segment biometric parameters.Greater LV was significantly associated with greater postoperative increases in ACD,AOD,and TIA(all P<0.05),but was not significantly associated with changes of ARA.CONCLUSION:Greater baseline LT and LV measurements are associated with greater increases in anterior segment biometric parameters after laser peripheral iridotomy.AL are not associated with the change of anterior segment biometric parameters.展开更多
AIM：To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families.METHODS：Detailed family histories and clinical data...AIM：To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families.METHODS：Detailed family histories and clinical data were collected from patients during an ophthalmologic examination. Of 523 inheritable genetic vision systemrelated genes were captured and sequenced by targeted next-generation sequencing,and the results were confirmed by Sanger sequencing. The possible functional impacts of an amino acid substitution were performed with Poly Phen-2 and SIFT predictions.RESULTS：The patients in the two families were affected with congenital cataract. Sixty-five （FAMILY-1） and sixty two （FAMILY-2） single-nucleotide polymorphisms and indels were selected by recommended filtering criteria.Segregation was then analyzed by applying Sanger sequencing with the family members. A heterozygous CRYBB1 mutation in exon 4 （c.347T〉C, p.L116P） was identified in sixteen patients in FAMILY-1. A heterozygous CRYBB2 mutation in exon 5 （c.355G〉A, p.G119R） was identified in three patients in FAMILY-2. Each mutation cosegregated with the affected individuals and did not exist in unaffected family members and 200 unrelated normal controls.The mutation was predicted to be highly conservative and to be deleterious by both PolyPhen-2 and SIFT.CONCLUSION：TheCRYBB1 mutation（c.347T〉C）and CRYBB2 mutation （c.355G〉A） are novel in patients with congenital cataract. We summarize the variable phenotypes among the patients, which expanded the phenotypic spectrum of congenital cataract in a different ethnic background.展开更多
AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1(FBN1) gene responsible for congenital ectopia lentis(EL) in two Chinese families in northern China.METHODS: A detailed fami...AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1(FBN1) gene responsible for congenital ectopia lentis(EL) in two Chinese families in northern China.METHODS: A detailed family history and clinical data from all participants were collected by clinical examination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. Haplotyping was used to confirm the mutation sequence. Real-time PCR was used to determine the FBN1 messenger ribonucleic acid(m RNA) levels in patients with EL and in unaffected family members.RESULTS: The probands and other patients in the two families were affected with congenital isolated EL. A heterozygous FBN1 mutation in exon 21(c.2420_IVS20-8 del TCTGAAACAins CGAAAG) was identified in FAMILY-1. A heterozygous FBN1 mutation in exon 14(c.1633 C>T, p.R545 C) was identified in FAMILY-2. Each mutation cosegregated with the affected individuals in the family and did not exist in unaffected family members and 200 unrelated normal controls.CONCLUSION: The insertion-deletion mutation(c.2420 IVS20-8 del TCTGAAACA ins CGAAAG) in the FBN1 gene is first identified in isolated EL. The mutation(c.1633 C>T) in the FBN1 gene was a known mutation in EL patient. The variable phenotypes among the patients expand the phenotypic spectrum of EL in a different ethnic background.展开更多
AIM:To examine the change of iris volume measured by CASIA2 anterior segment optical coherence tomography(ASOCT)in glaucoma patients with or without type 2 diabetes mellitus(T2DM)and explore if there is a correlation ...AIM:To examine the change of iris volume measured by CASIA2 anterior segment optical coherence tomography(ASOCT)in glaucoma patients with or without type 2 diabetes mellitus(T2DM)and explore if there is a correlation between hemoglobin A1c(HbA1c)level and iris volume.METHODS:In a cross-sectional study,72 patients(115 eyes)were divided into two groups:primary open angle glaucoma(POAG)group(55 eyes)and primary angle-closure glaucoma(PACG)group(60 eyes).Patients in each group were separately classified into patients with or without T2DM.Iris volume and glycosylated HbA1c level were measured and analyzed.RESULTS:In the PACG group,diabetic patients'iris volume was significantly lower than those of non-diabetics(P=0.02),and there was a significant correlation between iris volume and HbA1c level in the PACG group(r=-0.26,P=0.04).However,diabetic POAG patients'iris volume was noticeably higher than those of non-diabetics(P=0.01),and there was a significant correlation between HbA1c level and iris volume(r=0.32,P=0.02).CONCLUSION:Diabetes mellitus impact iris volume size,as seen by increased iris volume in the POAG group and decreased iris volume in the PACG group.In addition,iris volume is significantly correlated with HbA1c level in glaucoma patients.These findings imply that T2DM may compromise iris ultrastructure in glaucoma patients.展开更多
基金Supported by the National Natural Science Foundation of China(No.82371058)the Natural Science Foundation of Shandong Province(No.ZR2020MH172)+2 种基金the Ophthalmology New Technology Incubation Fund Program(Ophthalmology Incubation Fund Phase II Project[2022]No.[005])Medicine Science and Technology Development Program of Shandong Province(No.202107020108)Qingdao Science and Technology Beneficiary Program(No.24-1-8-smjk-16-nsh).
文摘AIM:To evaluate the effects of antiglaucoma eye drops on corneal nerves by in vivo confocal microscopy(IVCM).METHODS:This study comprised 79 patients diagnosed with glaucoma and 16 healthy control individuals.Among the glaucoma patients,54 were treated with medication,while 25 remained untreated.Central corneal images were evaluated by IVCM,and then ACCMetrics was used to calculate the following parameters:corneal nerve fiber density(CNFD),branch density(CNBD),fiber length(CNFL),total branch density(CTBD),fiber area(CNFA),fiber width(CNFW),and fractal dimension(CNFrD).The correlation between IVCM parameters and drugs was evaluated using non-parametric measurements of Spearman’s rank correlation coefficient.RESULTS:The CNFD was reduced in glaucoma groups compared to healthy subjects(P<0.01).Patients using anti-glaucoma medications exhibited poorer confocal parameters compared to untreated patients.As the number of medications and usage count increased,CNFD,CNBD,CNFL,CTBD,CNFA,and CNFrD experienced a decline,while CNFW increased(all P<0.01).For the brinzolamide-therapy group,there was a significant decrease in CNFD and CNFL compared to the other monotherapy groups(P<0.001).In the absence of medication,CNFD in males was lower than that in females(P<0.05).Among patients under medication therapy,CNFD remained consistent between males and females.CONCLUSION:Antiglaucoma eye drops affect the microstructure of corneal nerves.IVCM and ACCMetrics are useful tools that could be used to evaluate the corneal nerve changes.
基金Supported by China Postdoctoral Science Foundation Funded Project(No.2017M612211)the National Natural Science Foundation of China(No.81300742+2 种基金No.81600721)the Shandong Province Medical and Health Technology Development Project(No.2016WS0265)the Science and Technology Plan of Qingdao(No.15-9-1-35-jch)
文摘AIM： To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome （ARS） and characterize the molecular defect in PITX2 in the family. METHODS： Patients presented with typical ARS from a Chinese family were investigated. We performed genome- wide linkage scan and exome sequencing to identify the pathogenic mutations, Candidate mutations were verified for co-segregation in the whole pedigree using Sanger sequencing, Real-time polymerase chain reaction （RT- PCR） and Western blotting were performed to verify the expression of the pathogenic gene. RESULTS： Genome-wide linkage and exome sequencing analyses showed PITX2 as the disease candidate gene. A〉G substitution at position -11 of 3＇ss of exon 5 （IVS5- 11A〉G） that co-segregated with the disease phenotype was discovered in the family. The PITX2 messenger ribonucleic acid and protein levels were about 50% lower in patients with ARS than in unaffected family members in the family, CONCLUSION： Our findings implicate the first intronic mutation of the PITX2 gene in the pathogenesis of a severe form of ARS in a Chinese family. This study highlights the importance of a systematic search for intronic mutation in ARS cases for which no mutations in the exons of PITX2 have been found.
文摘AIM：To determine the epidemiological characteristics,clinical signs,laboratory findings,and outcomes in patients with corneal infection in Shandong peninsula of China.·METHODS：The medical records of 578 inpatients（578eyes）with corneal infection were reviewed retrospectively for demographic characteristics,risk factors,seasonal variation,clinical signs,laboratory findings,and treatment strategy.Patient history,ocular examination findings using slit-lamp biomicroscopy,laboratory findings resulted from microbiological cultures,and treatment.·RESULTS：Fungal keratitis constituted 58.48%of cases of infectious keratitis among the inpatients,followed by herpes simplex keratitis（20.76%）,bacterial keratitis（19.03%）and acanthamoeba keratitis（1.73%）.The most common risk factor was corneal trauma（71.80%）.The direct microscopic examination（338 cases）using potassium hydroxide（KOH）wet mounts was positive in296 cases（87.57%）.Among the 298 fungal culturepositive cases,Fusarium species were the most common isolates（70.47%）.A total of 517 cases（89.45%）received surgical intervention,including 255（44.12%）cases of penetrating keratoplasty,74（12.80%）cases of lamellar keratoplasty which has become increasingly popular,and77 cases（13.32%）of evisceration or enucleation.·CONCLUSION：At present,infectious keratitis is a primary corneal disease causing blindness in China.With Fusarium species being the most commonly identified pathogens,fungal keratitis is the leading cause of severe infectious corneal ulcers in Shandong peninsula of China.
基金Supported by the National Natural Science Foundation of China(No.81670839)the Shandong Medical and Health Science and Technology Development Program(No.2016WS0265)the Qingdao People’s Livelihood Science and Technology Project(No.16-6-2-14-nsh)
文摘AIM: To provide statistical evidence for the use of antibiotics in ophthalmology by assessing the distribution and antibiotic sensitivity of bacterial isolates from ocular specimens with suspected microbial infections.METHODS: This study applied a retrospective analysis of 3690 bacterial isolates from ocular specimens, which were obtained from the conjunctiva, cornea, aqueous humor, vitreous body, and other ocular sites of the patients at Shandong Eye Institute in northern China from January 2013 to December 2017. The parameters assessed mainly included the distribution of isolated bacteria and the results of susceptibility tests for antibiotics. In the analysis of antibiotic sensitivities, the bacteria were divided into four groups according to gram staining, and statistical methods were used to compare their antibiotic sensitivities. RESULTS: Among the 3690 isolated bacterial strains, Staphylococcus epidermidis(2007, 54.39%) accounted for the highest proportion. As for the total isolates, their sensitivity rate to gatifloxacin was up to 90.01%, with four types of gram-stained bacteria being all highly sensitive to it, but their sensitivity rate to levofloxacin was only 51.91%. The sensitivity rate of gram-negative bacilli(G-B) to levofloxacin was 83.66%, significantly higher than the other three types of gram-stained bacteria(P<0.05). Gram-positive cocci (G+C, 97.95%) and gram-positive bacilli(G+B, 97.54%) were more sensitive to vancomycin than gram-negative cocci(G-C, 70.59%) and G-B(68.57%;P<0.05). For fusidic acid, the sensitivity rates of G+C(89.83%) and G+B(73.37%) were significantly higher than that of G-B(29.83%;P<0.05). The gram-negative bacteria's sensitivity rate to cefuroxime was as low as 59.25%, but only G-B was less sensitive to cefuroxime(57.28%), while G-C was still highly sensitive(89.29%). The sensitivity rate of gram-positive bacteria to moxifloxacin was as high as 80.28%, but only G+C was highly sensitive to moxifloxacin(81.21%), while G+B was still less sensitive(32.00%). CONCLUSION: Staphylococcus epidermidis is the predominant isolate in all ocular specimens with bacteria. Gatifloxacin is more suitable for topical prophylactic use than levofloxacin in ophthalmology when necessar y. Vancomycin and fusidic acid both have better effects on gram-positive bacteria than gram-negative bacteria. More accurate antibiotic sensitivity analysis results can be obtained when a more detailed bacterial classification and more appropriate statistical methods are performed.
基金Supported by the Natural Science Foundation of Shandong Province(No.ZR2020MH172)the Demonstration and Guidance Project of Science and Technology Benefiting People in Qingdao(No.20-3-4-39-nsh)。
文摘AIM:To investigate the association of axial length(AL),lens thickness(LT),and lens vault(LV)with postoperative anterior chamber angle metrics after laser peripheral iridotomy(LPI).METHODS:Prospective observational study of 69 patients(97 eyes)were diagnosed as primary angle-closure suspect(PACS),primary angle closure(PAC)or primary angle-closure glaucoma(PACG).AL,LT,anterior central chamber depth(ACD),angle opening distance(AOD),trabecular iris angle(TIA),and angle recess area(ARA)were measured before and 1 wk after LPI.The association between AL,LT,LV with ACD,AOD,TIA,ARA were analyzed by comparing the differences between preoperative and postoperative measurements for anterior segment biometric parameters.RESULTS:ACD,AOD,TIA,and ARA were significantly increased after LPI(all P<0.05).Greater LT was significantly associated with greater postoperative increases in ACD,AOD,TIA,and ARA(all P<0.05).AL was not significantly associated with changes of anterior segment biometric parameters.Greater LV was significantly associated with greater postoperative increases in ACD,AOD,and TIA(all P<0.05),but was not significantly associated with changes of ARA.CONCLUSION:Greater baseline LT and LV measurements are associated with greater increases in anterior segment biometric parameters after laser peripheral iridotomy.AL are not associated with the change of anterior segment biometric parameters.
基金Supported by China Postdoctoral Science Foundation Funded Project(No.2017M612211)Shandong Provincial Natural Science Foundation(No.ZR2018MH016)+3 种基金Qingdao Postdoctoral Application Research Project(No.40518060071)Medical Program of Shandong Province(No.2016WS0265)Qingdao Science and Technology Plan(No.16-6-2-14-nsh)Shandong Province Higher Educational Science and Technology Program(No.J17KA235)
文摘AIM：To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families.METHODS：Detailed family histories and clinical data were collected from patients during an ophthalmologic examination. Of 523 inheritable genetic vision systemrelated genes were captured and sequenced by targeted next-generation sequencing,and the results were confirmed by Sanger sequencing. The possible functional impacts of an amino acid substitution were performed with Poly Phen-2 and SIFT predictions.RESULTS：The patients in the two families were affected with congenital cataract. Sixty-five （FAMILY-1） and sixty two （FAMILY-2） single-nucleotide polymorphisms and indels were selected by recommended filtering criteria.Segregation was then analyzed by applying Sanger sequencing with the family members. A heterozygous CRYBB1 mutation in exon 4 （c.347T〉C, p.L116P） was identified in sixteen patients in FAMILY-1. A heterozygous CRYBB2 mutation in exon 5 （c.355G〉A, p.G119R） was identified in three patients in FAMILY-2. Each mutation cosegregated with the affected individuals and did not exist in unaffected family members and 200 unrelated normal controls.The mutation was predicted to be highly conservative and to be deleterious by both PolyPhen-2 and SIFT.CONCLUSION：TheCRYBB1 mutation（c.347T〉C）and CRYBB2 mutation （c.355G〉A） are novel in patients with congenital cataract. We summarize the variable phenotypes among the patients, which expanded the phenotypic spectrum of congenital cataract in a different ethnic background.
基金Supported by Natural Science Foundation of Shandong Province (No.ZR2018MH016)China Postdoctoral Science Foundation Funded Project (No.2017M612211)+2 种基金Medical Program of Shandong Province (No.2016WS0265)Qingdao Postdoctoral Application Research Project (No.40518060071)Qingdao Science and Technology Plan (No.16-6-2-14-nsh)
文摘AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1(FBN1) gene responsible for congenital ectopia lentis(EL) in two Chinese families in northern China.METHODS: A detailed family history and clinical data from all participants were collected by clinical examination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. Haplotyping was used to confirm the mutation sequence. Real-time PCR was used to determine the FBN1 messenger ribonucleic acid(m RNA) levels in patients with EL and in unaffected family members.RESULTS: The probands and other patients in the two families were affected with congenital isolated EL. A heterozygous FBN1 mutation in exon 21(c.2420_IVS20-8 del TCTGAAACAins CGAAAG) was identified in FAMILY-1. A heterozygous FBN1 mutation in exon 14(c.1633 C>T, p.R545 C) was identified in FAMILY-2. Each mutation cosegregated with the affected individuals in the family and did not exist in unaffected family members and 200 unrelated normal controls.CONCLUSION: The insertion-deletion mutation(c.2420 IVS20-8 del TCTGAAACA ins CGAAAG) in the FBN1 gene is first identified in isolated EL. The mutation(c.1633 C>T) in the FBN1 gene was a known mutation in EL patient. The variable phenotypes among the patients expand the phenotypic spectrum of EL in a different ethnic background.
基金Supported by Natural Science Foundation of Shandong Province(No.ZR2020MH172)。
文摘AIM:To examine the change of iris volume measured by CASIA2 anterior segment optical coherence tomography(ASOCT)in glaucoma patients with or without type 2 diabetes mellitus(T2DM)and explore if there is a correlation between hemoglobin A1c(HbA1c)level and iris volume.METHODS:In a cross-sectional study,72 patients(115 eyes)were divided into two groups:primary open angle glaucoma(POAG)group(55 eyes)and primary angle-closure glaucoma(PACG)group(60 eyes).Patients in each group were separately classified into patients with or without T2DM.Iris volume and glycosylated HbA1c level were measured and analyzed.RESULTS:In the PACG group,diabetic patients'iris volume was significantly lower than those of non-diabetics(P=0.02),and there was a significant correlation between iris volume and HbA1c level in the PACG group(r=-0.26,P=0.04).However,diabetic POAG patients'iris volume was noticeably higher than those of non-diabetics(P=0.01),and there was a significant correlation between HbA1c level and iris volume(r=0.32,P=0.02).CONCLUSION:Diabetes mellitus impact iris volume size,as seen by increased iris volume in the POAG group and decreased iris volume in the PACG group.In addition,iris volume is significantly correlated with HbA1c level in glaucoma patients.These findings imply that T2DM may compromise iris ultrastructure in glaucoma patients.
