AIM:To investigate whether mutations in TGFBI gene or CHST6 gene correlated with stromal corneal dystrophies(CD) in 8 Chinese probands.· METHODS:Eight unrelated patients with stromal corneal dystrophies were recr...AIM:To investigate whether mutations in TGFBI gene or CHST6 gene correlated with stromal corneal dystrophies(CD) in 8 Chinese probands.· METHODS:Eight unrelated patients with stromal corneal dystrophies were recruited in this study;all affected members were assessed by completely ophthalmologic examinations.Genomic DNA was extracted from peripheral leukocytes,17 exons of TGFBI gene and the exon of CHST6 gene were amplified by polymerase chain reaction(PCR),sequenced directly and compared with the reference database.· RESULTS:Three heterozygous mutations in TGFBI gene were identified in six patients:c.370C>T(p.Arg124Cys) was found in exon 4 of TGFBI gene in three members,c.371G>A(p.Arg124His) was found in one patient;c.1663C>T(p.Arg555Trp) was found in exon 12 in other two members.In addition,four polymorphisms with the nucleotide changes rs1442,rs1054124,rs4669,and rs35151677 were found in TGFBI gene.Mutations were not identified in the rest of 2 affected individuals in TGFBI gene or CHST6 gene.· CONCLUSION:Within these patients,R124C,R124H and R555W mutations were co-segregated with the disease phenotypes and were specific mutations for lattice corneal dystrophy type I(LCD I),Avellino corneal dystrophy(ACD,GCDⅡ),granular corneal dystrophy type I(GCD I),respectively.Our study highlights the prevalence of codon 124 and codon 555 mutations in the TGFBI gene among the Chinese stromal corneal dystrophies patients.·展开更多
Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and ...Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and gene sequencing advance greatly, which do benefit to our understanding of these diseases. However, many aspects remain still unknown. And due to the poor knowledge of these diseases, the results of the treatments are not satisfactory. The purpose of this review was to summarize the clinical, histological and genetic characteristics of different types of corneal dystrophies.展开更多
Background: This case report presents a case of bilateral Thiel-Behnke corneal dystrophy in Denmark. Thiel-Behnke is an autosomal dominant inherited epithelial-stromal TGFBI dystrophy causing visual impairment. Method...Background: This case report presents a case of bilateral Thiel-Behnke corneal dystrophy in Denmark. Thiel-Behnke is an autosomal dominant inherited epithelial-stromal TGFBI dystrophy causing visual impairment. Methods and Results: This case study presents a 24-year-old Lithuanian man, with no previous ocular history, who had experienced slowly progressive visual impairment since his childhood. He was examined at the Department of Ophthalmology at Vejle Hospital and Aarhus University Hospital, where he was diagnosed with bilateral Thiel-Behnke corneal dystrophy. Histology confirmed the diagnosis. A lamellar corneal transplantation was performed in the right eye;however, due to epithelial growth under the corneal graft, it was later decided to redo the operation. Following the operations, the patient experienced a visual improvement in best corrected visual acuity (BCVA) from 0.1 (20/25 Snellen equivalent) to 0.3 (20/40 Snellen equivalent) in his right eye. Conclusions: This case of Thiel-Behnke corneal dystrophy is to our knowledge the first reported case in Denmark.展开更多
Objective:To investigate gene mutations associated with three different types of corneal dystrophies(CDs),and to establish a phenotype-genotype correlation.Methods:Two patients with Avellino corneal dystrophy(ACD),fou...Objective:To investigate gene mutations associated with three different types of corneal dystrophies(CDs),and to establish a phenotype-genotype correlation.Methods:Two patients with Avellino corneal dystrophy(ACD),four patients with lattice corneal dystrophy type I(LCD I) from one family,and three patients with macular corneal dystrophy type I(MCD I) were subjected to both clinical and genetic examinations.Slit lamp examination was performed for all the subjects to assess their corneal phenotypes.Genomic DNA was extracted from peripheral blood leukocytes.The coding regions of the human transforming growth factor β-induced(TGFBI) gene and carbohydrate sulfotransferase 6(CHST6) gene were amplified by polymerase chain reaction(PCR) and subjected to direct sequencing.DNA samples from 50 healthy volunteers were used as controls.Results:Clinical examination showed three different phenotypes of CDs.Genetic examination identified that two ACD subjects were associated with homozygous R124H mutation of TGFBI,and four LCD I subjects were all associated with R124C heterozygous mutation.One MCD I subject was associated with a novel S51X homozygous mutation in CHST6,while the other two MCD I subjects harbored a previously reported W232X homozygous mutation.Conclusions:Our study highlights the prevalence of codon 124 mutations in the TGFBI gene among the Chinese ACD and LCD I patients.Moreover,we found a novel mutation among MCD I patients.展开更多
BACKGROUND The current case report describes successful phacoemulsification with the aid of perioperative topical ascorbic acid(AA) in two patients with corneal endothelial disorders to prevent postoperative corneal e...BACKGROUND The current case report describes successful phacoemulsification with the aid of perioperative topical ascorbic acid(AA) in two patients with corneal endothelial disorders to prevent postoperative corneal endothelial decompensation.CASE SUMMARY Two eyes of two patients underwent phacoemulsification with pre-existing corneal endothelial disorders including Fuchs corneal endothelial dystrophy(Patient 1) and endotheliitis(Patient 2). Topical AA was applied to both patients at least one month before and after with a frequency of four times per day. After the surgery, both eyes improved best-corrected visual acuity(BCVA) and there was limited human corneal endothelial cell loss without signs of corneal endothelial decompensation, such as deteriorated BCVA or persistent corneal edema during the follow-up of at least two years.CONCLUSION Perioperative administration of topical AA may be an alternative therapy to the triple procedure in patients expecting to undergo cataract surgery.展开更多
AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic EX aminations were performed on all the family members. Exons of TGFBI were amplified by...AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic EX aminations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: A single heterozygous G>A(R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members. CONCLUSION: Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree..展开更多
AIM： To uncover the mutations profile of transforming growth factor beta-induced （TGFBI） gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations. M...AIM： To uncover the mutations profile of transforming growth factor beta-induced （TGFBI） gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations. METHODS： Forty-two subjects （6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients） of Chinese origin were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Mutation screening of the coding regions of TGFBI was performed by direct sequencing. RESULTS： We detected four corneal dystrophy types. The most frequent phenotypes were granular corneal dystrophy （GCD） （including 3 families and 8 sporadic patients） and lattice corneal dystrophy （LCD） （including 2 families and 9 sporadic patients）. The next phenotypes were corneal dystrophy of Bowman layer （CDB） （1 family and 1 sporadic patient） and epithelial basement membrane dystrophy （EBMD） （1 sporadic patient）. Six distinct mutations responsible for TGFBI corneal dystrophies were identified in 30 individuals with corneal dystrophies. Those were, p.R124H mutation in 1 family and 2 sporadic patients with GCD, p.R555W mutation in 2 families and 3 sporadic patients with GCD, p.R124C mutation in 2 families and 7 sporadic patients with LCD, p.A620D mutation in 1 sporadic patient with LCD, p.H626R mutation in 1 sporadic patient with LCD, and p.R555Q in 1 family and 1 sporadic patient with CDB. No mutation was detected in the remaining 3 atypical GCD patients and 1 EBMD patient, CONCLUSION： GCD and LCD are the most frequent phenotypes in Chinese population. R555W was the most common mutation for GCD; R124C was the most common mutation for LCD, Our findings extend the mutational spectrum of TFGBI , and this is the extensively delineated TGFBI mutation profile associated with the various corneal dystrophies in the Chinese population.展开更多
·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and cli...·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of all participated. Exons of the transforming growth factor-β-induced (TGFBI) gene were directly sequenced after being amplified by polymerase chain reaction (PCR), and multi-point linkage analysis using microsatellite makers flanking the gene was applied to identify the disease-causing mutation. · RESULTS: Clinical features were quite variable in patients, some patients only had opacities in the epithelium, and others revealed multiple bilateral circular, discrete, crumb -like opacities mainly in the epithelium, with several in different depths of corneal stroma, and the performance was different bilaterally, even in the same patient. Directly nucleotide sequencing revealed a heterozygous p.R555W mutation in the coding sequence of the TGFBI gene in all affected individuals of the family, but was not found in all unaffected. The maximum logarithm of odds (LOD) score obtained by multi -point analysis was detected at marker locus D5S393 (LOD = 2.740; α=1.000). ·CONCLUSION: Our case presented with clinical futures and the pathogenic mutations in TGFBI gene, the phenotype of the pedigree was quite different from typical GCD type I, so we suggested that this phenotype was a variant of GCD type I. These findings expand the knowledge about GCD type I, and demonstrate that molecular genetic analysis is important to make an accurate diagnosis of patients with variable corneal dystrophies in clinic.展开更多
AIM: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD,also known as GCD3).METHODS: In a five-generation Chinese family,...AIM: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD,also known as GCD3).METHODS: In a five-generation Chinese family,eight members were identified with RBCD and the rest were unaffected.All members of the family underwent complete ophthalmologic examinations.Exons of TGFBI were amplified by polymerase chain reaction,sequenced,and compared with a reference database.RESULTS: A single heterozygous C>T (R124C) point mutation was found in exon 4 of TGFBI in all the affected members of the pedigree,but not in the unaffected members.CONCLUSION: R124C which was a known mutation for lattice corneal dystrophy type I,segregated with the RBCD in this pedigree.This elucidated the correlation between genotype and phenotype in a Chinese family of RBCD.展开更多
AIM:To compare the corneal outcome in Fuchs’endothelial dystrophy(FED)patients between femtosecond laser-assisted cataract surgery(FLACS)and conventional phaco surgery(CPS).METHODS:This was a randomized controlled st...AIM:To compare the corneal outcome in Fuchs’endothelial dystrophy(FED)patients between femtosecond laser-assisted cataract surgery(FLACS)and conventional phaco surgery(CPS).METHODS:This was a randomized controlled study comparing one eye surgery by FLACS and the contralateral eye operated by CPS(stop and chop technique)in FED patients.Central corneal thickness,corneal light backscatter,corneal densitometry,and central corneal endothelial cell count and hexagonality(noncontact endothelial cell microscope),and corrected distance visual acuity(CDVA)were assessed preoperatively and at day 1,40,and 180 postoperatively.RESULTS:Totally 31 patients(16 women)were included.At day 40 postoperatively,the mean endothelial cell loss(ECL)was 23.67%by FLACS and 17.30%by CPS(P=0.53).At day 180 postoperatively,ECL was 25.58%in FLACS and 21.32%in CPS(P=0.69).Densitometry data in all layers and all annuli from anterior layer to posterior layer in annuli 0-2,2-6,6-10 and 10-12,total densitometry with all layers and all annuli was performed.A significant difference was found in 6-10(posterior layer)at day 1 with-1.42 grayscale units(GSU;95%CI:-2.66 to-0.19,P=0.02).In 10-12(anterior layer,central layer and all layers)at day 40 were significant different with 7.7(95%CI:1.89 to 13.50,P=0.009),3.97(95%CI:0.23 to 7.71,P=0.03),4.73 GSU(95%CI:0.71 to 8.75,P=0.02),respectively.In the remaining parameters we found no difference between the two groups(P>0.05).Three CPS eyes suffered from corneal decompensation.CONCLUSION:There is no significant difference in corneal outcome between FLACS and CPS.Endothelial cell density and pentacam corneal outcome may be inadequate as outcome parameters in FED patients.展开更多
AIM：To report a phenotypic variant pedigree of lattice corneal dystrophy（LCD）associated with two mutations,R124C and A546 D,in the transforming growth factor betainduced gene（TGFBI）.METHODS：A detailed ocular exa...AIM：To report a phenotypic variant pedigree of lattice corneal dystrophy（LCD）associated with two mutations,R124C and A546 D,in the transforming growth factor betainduced gene（TGFBI）.METHODS：A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Polymerase chain reaction（PCR）of all seventeen exons of TGFBI gene was performed. The products were sequenced and analyzed. Histological examination was carried out after a penetrating keratoplasty from the right eye of proband. RESULTS：Genetic analysis showed that the proband and all 6 affected individuals harbored both a heterozygous CGC to TGC mutation at codon 124 and a heterozygous GCC to GAC mutation at codon 546 of TGFBI. None of the 100 control subjects and unaffected family members was positive for these two mutations. Ocular examination displayed multiple refractile lattice-like opacities in anterior stroma of the central cornea and small granular deposits in the peripheral cornea. The deposits were stained positively with Congo red indicating be amyloid in nature and situated mainly in the anterior and middle stroma. CONCLUSION：We observed a novel LCD family which carried two pathogenic mutations（R124C and A546D）in the TGFBI gene. The phenotypic features were apparently different from those associated with corresponding single mutations. The result reveals that although the definite mutation is the most important genetic cause of the disease,some different modifier alleles may influence the phenotype.展开更多
Dear Sir,Iam Dr.Jaya Kaushik from the Department of Ophthalmology of the Post Graduate Institute of Medical Education and Research,Chandigarh,India.I write to present a case report of phacoemulsification in a rare cas...Dear Sir,Iam Dr.Jaya Kaushik from the Department of Ophthalmology of the Post Graduate Institute of Medical Education and Research,Chandigarh,India.I write to present a case report of phacoemulsification in a rare case of cataract associated with keratoconus and Fuch’s endothelial corneal展开更多
Purpose:.To investigate phenotypes and disease-causing mutation in the transforming growth factor b-induced gene(TGFBI) in a Southern Chinese pedigree with lattice corneal dystrophy(LCD) IIIB with complicated cataract...Purpose:.To investigate phenotypes and disease-causing mutation in the transforming growth factor b-induced gene(TGFBI) in a Southern Chinese pedigree with lattice corneal dystrophy(LCD) IIIB with complicated cataract.Methods:.A Southern Chinese pedigree with lattice corneal dystrophy IIIB with complicated cataract was recruited. Comprehensive ophthalmic investigations were performed before and after cataract surgery of phacoemulsification and intraocular lens implantation in the proband's both eyes..Peripheral blood was collected from the proband,.and genomic DNA was extracted..All exons of the TGFBI gene were sequenced to screen possible mutations.Results:.A bilateral LCD IIIB subtype was observed in the proband..Optical coherence tomography further revealed superreflective changes in the subepithelial and stroma layers of the cornea,.with reduced central corneal thickness..Notably,bilateral cataract was found in the proband..Direct sequencing detected a recurrent heterozygous missense c.1877A>G mutation in exon 14 of the TGFBI gene,.resulting in substitution of histidine with arginine(p.H626R).Conclusion:.The current study was the first report of the TGFBI p.H626R mutation in Southern Chinese,.suggesting that it could be a mutation hotspot across populations..Moreover,.the mutation was associated with LCD IIIB subtype with complicated cataract,.which had not been reported before,pointing to clinical heterogeneity of the mutation.展开更多
AIM： To evaluate the outcomes of alcohol delamination（ALD） of the corneal epithelium for the treatment of recurrent corneal erosion syndrome（RCES） and to implement a standardized treatment protocol for this condi...AIM： To evaluate the outcomes of alcohol delamination（ALD） of the corneal epithelium for the treatment of recurrent corneal erosion syndrome（RCES） and to implement a standardized treatment protocol for this condition utilizing evidence based practice and the findings of an internal audit. METHODS： A retrospective analysis of 42 eyes of 40 patients diagnosed with RCES who were treated with ALD between January 2006 and March 2016 was conducted. Patients had 20% alcohol applied to the cornea with the use of a well for 40 s. Patients were reviewed one week later in the Outpatient Department. Outcome criteria were established based on standards from other studies in the medical literature. These included, a treatment success rate of at least 72%（defined as complete resolution of symptoms one month after treatment）, a postoperative complication a rate of 〈5%（mainly infective keratitis, and subepithelial haze）, and the absence of any detrimental effect on visual acuity in ≥95% of patients. RESULTS： The mean age at the time of ALD was 41.17±13.44 y. Patients were followed for an average of 12.8±15.65 mo. The majority were female（52.5%, n=21） and the majority of eyes treated with ALD were left eyes（62.9%, n=26）. Trauma was the primary aetiology in our study population. Treatment was successful in 73.8%（n=31） of eyes and in 75%（n=30） of patients. Recurrence occurred in 26.2% of eyes at a mean of 10.41±12.63 mo post treatment. CONCLUSION： ALD is an efficacious and cost-effective primary surgical intervention for RCES.展开更多
AIM:To reveal the importance of TGFBI gene screening for candidates with a family history of corneal disease or granular opacities in corneal stroma before refractive surgery.METHODS:A 37-year-old male(proband)underwe...AIM:To reveal the importance of TGFBI gene screening for candidates with a family history of corneal disease or granular opacities in corneal stroma before refractive surgery.METHODS:A 37-year-old male(proband)underwent bilateral laser-assisted in situ keratomileusis(LASIK)in 2002,with right vision decreased significantly in 2006.The proband and other 32 members of the family underwent a detailed ophthalmic examination,including vision acuity,intraocular pressure,slit-lamp photograph,fundus examination,optical coherence tomography(OCT)of cornea,and in vivo confocal microscope(IVCM)and peripheral blood was used for genomic DNA extraction.Seventeen TGFBI gene exons were analyzed via polymerase chain reaction amplification and direct sequencing.RESULTS:Slit-lamp,IVCM,and OCT images showed that a large amount of dense and confluent granular opaque were seen at the interfaces of the flap and remnant stromal bed in right and light degree in left eye.Sanger sequencing showed that there was a 371 G>A mutation(CGC>CAC)in exon 4,which indicated that he harbored a heterozygote R124 H mutation,identifying the diagnosis of Avellino corneal dystrophy(ACD).Among the other 32 family members,6 of them harbored the identical mutation to that in the proband.CONCLUSION:ACD will worsen and recur after LASIK.Preoperative gene-screening for TGFBI mutations is important in diagnosing ACD.展开更多
文摘AIM:To investigate whether mutations in TGFBI gene or CHST6 gene correlated with stromal corneal dystrophies(CD) in 8 Chinese probands.· METHODS:Eight unrelated patients with stromal corneal dystrophies were recruited in this study;all affected members were assessed by completely ophthalmologic examinations.Genomic DNA was extracted from peripheral leukocytes,17 exons of TGFBI gene and the exon of CHST6 gene were amplified by polymerase chain reaction(PCR),sequenced directly and compared with the reference database.· RESULTS:Three heterozygous mutations in TGFBI gene were identified in six patients:c.370C>T(p.Arg124Cys) was found in exon 4 of TGFBI gene in three members,c.371G>A(p.Arg124His) was found in one patient;c.1663C>T(p.Arg555Trp) was found in exon 12 in other two members.In addition,four polymorphisms with the nucleotide changes rs1442,rs1054124,rs4669,and rs35151677 were found in TGFBI gene.Mutations were not identified in the rest of 2 affected individuals in TGFBI gene or CHST6 gene.· CONCLUSION:Within these patients,R124C,R124H and R555W mutations were co-segregated with the disease phenotypes and were specific mutations for lattice corneal dystrophy type I(LCD I),Avellino corneal dystrophy(ACD,GCDⅡ),granular corneal dystrophy type I(GCD I),respectively.Our study highlights the prevalence of codon 124 and codon 555 mutations in the TGFBI gene among the Chinese stromal corneal dystrophies patients.·
文摘Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and gene sequencing advance greatly, which do benefit to our understanding of these diseases. However, many aspects remain still unknown. And due to the poor knowledge of these diseases, the results of the treatments are not satisfactory. The purpose of this review was to summarize the clinical, histological and genetic characteristics of different types of corneal dystrophies.
文摘Background: This case report presents a case of bilateral Thiel-Behnke corneal dystrophy in Denmark. Thiel-Behnke is an autosomal dominant inherited epithelial-stromal TGFBI dystrophy causing visual impairment. Methods and Results: This case study presents a 24-year-old Lithuanian man, with no previous ocular history, who had experienced slowly progressive visual impairment since his childhood. He was examined at the Department of Ophthalmology at Vejle Hospital and Aarhus University Hospital, where he was diagnosed with bilateral Thiel-Behnke corneal dystrophy. Histology confirmed the diagnosis. A lamellar corneal transplantation was performed in the right eye;however, due to epithelial growth under the corneal graft, it was later decided to redo the operation. Following the operations, the patient experienced a visual improvement in best corrected visual acuity (BCVA) from 0.1 (20/25 Snellen equivalent) to 0.3 (20/40 Snellen equivalent) in his right eye. Conclusions: This case of Thiel-Behnke corneal dystrophy is to our knowledge the first reported case in Denmark.
文摘Objective:To investigate gene mutations associated with three different types of corneal dystrophies(CDs),and to establish a phenotype-genotype correlation.Methods:Two patients with Avellino corneal dystrophy(ACD),four patients with lattice corneal dystrophy type I(LCD I) from one family,and three patients with macular corneal dystrophy type I(MCD I) were subjected to both clinical and genetic examinations.Slit lamp examination was performed for all the subjects to assess their corneal phenotypes.Genomic DNA was extracted from peripheral blood leukocytes.The coding regions of the human transforming growth factor β-induced(TGFBI) gene and carbohydrate sulfotransferase 6(CHST6) gene were amplified by polymerase chain reaction(PCR) and subjected to direct sequencing.DNA samples from 50 healthy volunteers were used as controls.Results:Clinical examination showed three different phenotypes of CDs.Genetic examination identified that two ACD subjects were associated with homozygous R124H mutation of TGFBI,and four LCD I subjects were all associated with R124C heterozygous mutation.One MCD I subject was associated with a novel S51X homozygous mutation in CHST6,while the other two MCD I subjects harbored a previously reported W232X homozygous mutation.Conclusions:Our study highlights the prevalence of codon 124 mutations in the TGFBI gene among the Chinese ACD and LCD I patients.Moreover,we found a novel mutation among MCD I patients.
基金Supported by the Chang Gung Memorial Hospital,No.CMRPG3F1471~2 and No.CMRPG3G0031~3the Ministry of Science and Technology No.MOST106-2314-B-182A-042-34 and No.MOST 107-2314-B-182A-088-MY3
文摘BACKGROUND The current case report describes successful phacoemulsification with the aid of perioperative topical ascorbic acid(AA) in two patients with corneal endothelial disorders to prevent postoperative corneal endothelial decompensation.CASE SUMMARY Two eyes of two patients underwent phacoemulsification with pre-existing corneal endothelial disorders including Fuchs corneal endothelial dystrophy(Patient 1) and endotheliitis(Patient 2). Topical AA was applied to both patients at least one month before and after with a frequency of four times per day. After the surgery, both eyes improved best-corrected visual acuity(BCVA) and there was limited human corneal endothelial cell loss without signs of corneal endothelial decompensation, such as deteriorated BCVA or persistent corneal edema during the follow-up of at least two years.CONCLUSION Perioperative administration of topical AA may be an alternative therapy to the triple procedure in patients expecting to undergo cataract surgery.
基金Supported by National Natural Science Foundation of China(No.81000370)
文摘AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic EX aminations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: A single heterozygous G>A(R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members. CONCLUSION: Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree..
基金Supported by the National Natural Science Foundation of China (No.81370990)the Young and MiddleAged Scientists Research Awards Fund of Shandong Province, China (No. BS2013YY013, No. BS2015YY014)the Science and Technology Foundation of Shinan District, Qingdao, Shandong Province, China (No. 2013-13-014-YY)
文摘AIM： To uncover the mutations profile of transforming growth factor beta-induced （TGFBI） gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations. METHODS： Forty-two subjects （6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients） of Chinese origin were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Mutation screening of the coding regions of TGFBI was performed by direct sequencing. RESULTS： We detected four corneal dystrophy types. The most frequent phenotypes were granular corneal dystrophy （GCD） （including 3 families and 8 sporadic patients） and lattice corneal dystrophy （LCD） （including 2 families and 9 sporadic patients）. The next phenotypes were corneal dystrophy of Bowman layer （CDB） （1 family and 1 sporadic patient） and epithelial basement membrane dystrophy （EBMD） （1 sporadic patient）. Six distinct mutations responsible for TGFBI corneal dystrophies were identified in 30 individuals with corneal dystrophies. Those were, p.R124H mutation in 1 family and 2 sporadic patients with GCD, p.R555W mutation in 2 families and 3 sporadic patients with GCD, p.R124C mutation in 2 families and 7 sporadic patients with LCD, p.A620D mutation in 1 sporadic patient with LCD, p.H626R mutation in 1 sporadic patient with LCD, and p.R555Q in 1 family and 1 sporadic patient with CDB. No mutation was detected in the remaining 3 atypical GCD patients and 1 EBMD patient, CONCLUSION： GCD and LCD are the most frequent phenotypes in Chinese population. R555W was the most common mutation for GCD; R124C was the most common mutation for LCD, Our findings extend the mutational spectrum of TFGBI , and this is the extensively delineated TGFBI mutation profile associated with the various corneal dystrophies in the Chinese population.
基金Zhejiang Key Innovation Team Project of China (No.2009R50039)Zhejiang Key Laboratory Found of China (No.2011E10006)+1 种基金Medical Science and Technology Project of Zhejiang Province,China (No.2010QNA012)Science and Technology Program of Zhejiang University (No.2011FZA7013)
文摘·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of all participated. Exons of the transforming growth factor-β-induced (TGFBI) gene were directly sequenced after being amplified by polymerase chain reaction (PCR), and multi-point linkage analysis using microsatellite makers flanking the gene was applied to identify the disease-causing mutation. · RESULTS: Clinical features were quite variable in patients, some patients only had opacities in the epithelium, and others revealed multiple bilateral circular, discrete, crumb -like opacities mainly in the epithelium, with several in different depths of corneal stroma, and the performance was different bilaterally, even in the same patient. Directly nucleotide sequencing revealed a heterozygous p.R555W mutation in the coding sequence of the TGFBI gene in all affected individuals of the family, but was not found in all unaffected. The maximum logarithm of odds (LOD) score obtained by multi -point analysis was detected at marker locus D5S393 (LOD = 2.740; α=1.000). ·CONCLUSION: Our case presented with clinical futures and the pathogenic mutations in TGFBI gene, the phenotype of the pedigree was quite different from typical GCD type I, so we suggested that this phenotype was a variant of GCD type I. These findings expand the knowledge about GCD type I, and demonstrate that molecular genetic analysis is important to make an accurate diagnosis of patients with variable corneal dystrophies in clinic.
基金Supported by grants from the National Natural Science Foundation of China (No. NNSF 81000370)
文摘AIM: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD,also known as GCD3).METHODS: In a five-generation Chinese family,eight members were identified with RBCD and the rest were unaffected.All members of the family underwent complete ophthalmologic examinations.Exons of TGFBI were amplified by polymerase chain reaction,sequenced,and compared with a reference database.RESULTS: A single heterozygous C>T (R124C) point mutation was found in exon 4 of TGFBI in all the affected members of the pedigree,but not in the unaffected members.CONCLUSION: R124C which was a known mutation for lattice corneal dystrophy type I,segregated with the RBCD in this pedigree.This elucidated the correlation between genotype and phenotype in a Chinese family of RBCD.
文摘AIM:To compare the corneal outcome in Fuchs’endothelial dystrophy(FED)patients between femtosecond laser-assisted cataract surgery(FLACS)and conventional phaco surgery(CPS).METHODS:This was a randomized controlled study comparing one eye surgery by FLACS and the contralateral eye operated by CPS(stop and chop technique)in FED patients.Central corneal thickness,corneal light backscatter,corneal densitometry,and central corneal endothelial cell count and hexagonality(noncontact endothelial cell microscope),and corrected distance visual acuity(CDVA)were assessed preoperatively and at day 1,40,and 180 postoperatively.RESULTS:Totally 31 patients(16 women)were included.At day 40 postoperatively,the mean endothelial cell loss(ECL)was 23.67%by FLACS and 17.30%by CPS(P=0.53).At day 180 postoperatively,ECL was 25.58%in FLACS and 21.32%in CPS(P=0.69).Densitometry data in all layers and all annuli from anterior layer to posterior layer in annuli 0-2,2-6,6-10 and 10-12,total densitometry with all layers and all annuli was performed.A significant difference was found in 6-10(posterior layer)at day 1 with-1.42 grayscale units(GSU;95%CI:-2.66 to-0.19,P=0.02).In 10-12(anterior layer,central layer and all layers)at day 40 were significant different with 7.7(95%CI:1.89 to 13.50,P=0.009),3.97(95%CI:0.23 to 7.71,P=0.03),4.73 GSU(95%CI:0.71 to 8.75,P=0.02),respectively.In the remaining parameters we found no difference between the two groups(P>0.05).Three CPS eyes suffered from corneal decompensation.CONCLUSION:There is no significant difference in corneal outcome between FLACS and CPS.Endothelial cell density and pentacam corneal outcome may be inadequate as outcome parameters in FED patients.
基金Supported by the Ph.D.Programs Foundation of Heilongjiang Province(No.LBH-Q13126)the Research Foundation of the First Affiliated Hospital,Harbin Medical University(No.2011BS017)
文摘AIM：To report a phenotypic variant pedigree of lattice corneal dystrophy（LCD）associated with two mutations,R124C and A546 D,in the transforming growth factor betainduced gene（TGFBI）.METHODS：A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Polymerase chain reaction（PCR）of all seventeen exons of TGFBI gene was performed. The products were sequenced and analyzed. Histological examination was carried out after a penetrating keratoplasty from the right eye of proband. RESULTS：Genetic analysis showed that the proband and all 6 affected individuals harbored both a heterozygous CGC to TGC mutation at codon 124 and a heterozygous GCC to GAC mutation at codon 546 of TGFBI. None of the 100 control subjects and unaffected family members was positive for these two mutations. Ocular examination displayed multiple refractile lattice-like opacities in anterior stroma of the central cornea and small granular deposits in the peripheral cornea. The deposits were stained positively with Congo red indicating be amyloid in nature and situated mainly in the anterior and middle stroma. CONCLUSION：We observed a novel LCD family which carried two pathogenic mutations（R124C and A546D）in the TGFBI gene. The phenotypic features were apparently different from those associated with corresponding single mutations. The result reveals that although the definite mutation is the most important genetic cause of the disease,some different modifier alleles may influence the phenotype.
文摘Dear Sir,Iam Dr.Jaya Kaushik from the Department of Ophthalmology of the Post Graduate Institute of Medical Education and Research,Chandigarh,India.I write to present a case report of phacoemulsification in a rare case of cataract associated with keratoconus and Fuch’s endothelial corneal
基金National Natural Science Foundation of China(No.81000397)Natural Science Foundation of Guangdong Province,China(No.8151503102000019)+1 种基金Science and Technology Planning Project of Guangdong Province,China(No.2010B031600130)Grants of Joint Shantou International Eye Center,Shantou University/The Chinese University of Hong Kong(No.08-003,09-002,10-012 and 11-006)
文摘Purpose:.To investigate phenotypes and disease-causing mutation in the transforming growth factor b-induced gene(TGFBI) in a Southern Chinese pedigree with lattice corneal dystrophy(LCD) IIIB with complicated cataract.Methods:.A Southern Chinese pedigree with lattice corneal dystrophy IIIB with complicated cataract was recruited. Comprehensive ophthalmic investigations were performed before and after cataract surgery of phacoemulsification and intraocular lens implantation in the proband's both eyes..Peripheral blood was collected from the proband,.and genomic DNA was extracted..All exons of the TGFBI gene were sequenced to screen possible mutations.Results:.A bilateral LCD IIIB subtype was observed in the proband..Optical coherence tomography further revealed superreflective changes in the subepithelial and stroma layers of the cornea,.with reduced central corneal thickness..Notably,bilateral cataract was found in the proband..Direct sequencing detected a recurrent heterozygous missense c.1877A>G mutation in exon 14 of the TGFBI gene,.resulting in substitution of histidine with arginine(p.H626R).Conclusion:.The current study was the first report of the TGFBI p.H626R mutation in Southern Chinese,.suggesting that it could be a mutation hotspot across populations..Moreover,.the mutation was associated with LCD IIIB subtype with complicated cataract,.which had not been reported before,pointing to clinical heterogeneity of the mutation.
文摘AIM： To evaluate the outcomes of alcohol delamination（ALD） of the corneal epithelium for the treatment of recurrent corneal erosion syndrome（RCES） and to implement a standardized treatment protocol for this condition utilizing evidence based practice and the findings of an internal audit. METHODS： A retrospective analysis of 42 eyes of 40 patients diagnosed with RCES who were treated with ALD between January 2006 and March 2016 was conducted. Patients had 20% alcohol applied to the cornea with the use of a well for 40 s. Patients were reviewed one week later in the Outpatient Department. Outcome criteria were established based on standards from other studies in the medical literature. These included, a treatment success rate of at least 72%（defined as complete resolution of symptoms one month after treatment）, a postoperative complication a rate of 〈5%（mainly infective keratitis, and subepithelial haze）, and the absence of any detrimental effect on visual acuity in ≥95% of patients. RESULTS： The mean age at the time of ALD was 41.17±13.44 y. Patients were followed for an average of 12.8±15.65 mo. The majority were female（52.5%, n=21） and the majority of eyes treated with ALD were left eyes（62.9%, n=26）. Trauma was the primary aetiology in our study population. Treatment was successful in 73.8%（n=31） of eyes and in 75%（n=30） of patients. Recurrence occurred in 26.2% of eyes at a mean of 10.41±12.63 mo post treatment. CONCLUSION： ALD is an efficacious and cost-effective primary surgical intervention for RCES.
基金the National Natural Science Foundation of China(No.U20A20363No.81970776)the Natural Science Foundation of Heilongjiang Province,China(No.LH2020H039)。
文摘AIM:To reveal the importance of TGFBI gene screening for candidates with a family history of corneal disease or granular opacities in corneal stroma before refractive surgery.METHODS:A 37-year-old male(proband)underwent bilateral laser-assisted in situ keratomileusis(LASIK)in 2002,with right vision decreased significantly in 2006.The proband and other 32 members of the family underwent a detailed ophthalmic examination,including vision acuity,intraocular pressure,slit-lamp photograph,fundus examination,optical coherence tomography(OCT)of cornea,and in vivo confocal microscope(IVCM)and peripheral blood was used for genomic DNA extraction.Seventeen TGFBI gene exons were analyzed via polymerase chain reaction amplification and direct sequencing.RESULTS:Slit-lamp,IVCM,and OCT images showed that a large amount of dense and confluent granular opaque were seen at the interfaces of the flap and remnant stromal bed in right and light degree in left eye.Sanger sequencing showed that there was a 371 G>A mutation(CGC>CAC)in exon 4,which indicated that he harbored a heterozygote R124 H mutation,identifying the diagnosis of Avellino corneal dystrophy(ACD).Among the other 32 family members,6 of them harbored the identical mutation to that in the proband.CONCLUSION:ACD will worsen and recur after LASIK.Preoperative gene-screening for TGFBI mutations is important in diagnosing ACD.
