Thiel-Behnke Corneal Dystrophy in a Young Man in Denmark—A Case Report

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.

Characteristics of corneal dystrophies:a review from clinical,histological and genetic perspectives

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.

TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy

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..

Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients

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.

Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI

·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.

Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy

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.

Comparing corneal outcome between femtosecond laser-assisted cataract surgery and conventional phaco surgery in Fuchs’endothelial dystrophy patients:a randomized pilot study with 6mo follow up

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.

TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies

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.·

Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy

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.

Phacoemulsification in a rare case of keratoconus with Fuch's endothelial corneal dystrophy

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

Genetic and Phenotypic Investigation of a Chinese Pedigree with Lattice Corneal Dystrophy ⅢB Subtype

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.

Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK

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.

A recognition survey of granular corneal dystrophy type 2 genetic detection in China

AIM:To evaluate the feasibility of promoting genetic detection for granular corneal dystrophy type 2(GCD2)by a questionnaire conducted among citizens in five cities in China.METHODS:The data were collected by questionnaire,and analyzed by Chi-square test and one-tailed t test in IBM SPSS statistics.RESULTS:Based on the survey data on the awareness of GCD2 genetic detection in this study and the positive predictive analysis report of the citizens in five cities in China,the vast majority(84.2%)of respondents had never heard of it and did not know that GCD2 patients have been prohibited from performing excimer surgery that can deteriorate GCD2 patients’condition even leading to blindness.Though 3.4%of patients understood GCD2 very much,they have no idea that GCD2 could not be 100%accuracy diagnosed by the conventional inspection methods.CONCLUSION:It is feasible and necessary to use GCD2 genetic detection as an excimer preoperative examination project.In order to promote the development of detection project,a few improvements should be carried out in terms of the promoting efforts,costs,and research progress.

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

·AIM:To investigate the histological characteristics and ultrastructure of recurrent Chinese R124 L mutated corneal dystrophy after keratoplasty.·METHODS:The subjects were enrolled from a Chinese family of corneal dystrophy with R124 L heterozygous gene mutation and with a history of consanguineous marriage.Normal corneal samples were used as controls.·RESULTS:In this family,2 patients(3 eyes)underwent penetrating keratoplasty(PKP)and 2 patients(4 eyes)underwent lamellar keratoplasty(LKP).They had recurrence at 33.5±3.0(range 30-36)mo after keratoplasty.Among them,1 patient(1 eye)underwent PKP again and 1 patient(2 eyes)underwent LKP again.In the R124 L mutated recurrent corneal dystrophy,the corneal turbidity was mainly distributed from the upper corneal cortex to the anterior stroma;the corneal epithelium surface was rougher and more uneven;and,the corneal erosions were larger.Hematoxylin-eosin staining showed that the thickness of the corneal epithelium was uneven;the arrangement of the epithelial cells was disordered;and,some corneal epithelial cells were swollen.The results of Congo red staining,Masson’s trichrome staining and Periodic acid-Schiff staining were positive,while that of Alcian blue staining was negative.Under a transmission electron microscope,deposition of high electron density substances between epithelial and basal cells,and,apoptosis of basal cells were observed.Many high electron density depositions were observed in the sub-epithelial and anterior corneal matrix.·CONCLUSION:In the Chinese family of recurrent corneal dystrophy with R124 L gene mutation,the corneal epithelia of the recurrent cases are rougher,and the corneal depositions are extra cellular amyloid fibrin.

AB027.Varying pattern of proteases secretion in Fuchs corneal endothelial dystrophy

Background:The goal of this project was to analyze the relationship between cell morphology and proteases/proteases inhibitors(PIs)secretion profile in fuchs endothelial corneal dystrophy(FECD)corneal endothelial cells(CECs).Methods:Cell morphology was determined using a circularity index(4π×area/perimeter2)for each CECs population extracted from surgical FECD specimens(N=2)and healthy Eye bank corneas(N=3).CECs were cultured 28 days post-confluency.Supernatant was collected and analysed using Proteome Profiler Array detecting 35 proteases and 32 PIs(R&D Systems).Proteome signal was analyzed using Image Studio Lite and correlated with the population’s circularity index.Results:Calculation of circularity index reported different morphologies among FECD populations(0.59±0.18 and 0.64±0.17)and healthy populations(0.44±0.18,0.66±0.13 and 0.71±0.11).Proteome arrays revealed the presence of 10 proteases(ADAMTS1,Cathepsin A,B,D,and X/Z/P,DPPIV/CD26,MMP-2,3 and 12,uPA/Urokinase)and 10 PIs(Protease Nexin II,Cystatin B and C,EMMPRIN/CD147,Latexin,Lipocalin-1,Serpin E1,TFPI,TFPI-2,TIMP-1,2 and 4).Healthy and FECD specimens showed similar variation patterns according to morphology for secretion of ADAMTS1,MMP-3 and 12.However,opposing patterns between healthy and FECD populations were observed for Cathepsin B and D.Moreover,some proteins did not show variation according to phenotype in healthy CECs,but did in FECD CECs:Cathepsin A,Cystatin C,TFPI-2 and total TIMPs.For the other proteins,secretion did not vary according to morphology or no specific pattern was distinguishable.Conclusions:To conclude,our results suggest that cell phenotype is linked to the secretion of certain proteases/PIs in both groups.However,there seems to be differences in secretion of particular proteases and PIs between FECD and healthy specimens as morphology did not have a similar influence.These differences might initiate an imbalance between proteases and PIs explaining the irregular thickening of the Descemet membrane seen in FECD.

Graft rejection after deep anterior lamellar keratoplasty in fellow eye in macular corneal dystrophy: a case report

Because of the low incidence of immunological rejection,deep anterior lamellar keratoplasty(DALK)is currently the preferred treatment for macular corneal dystrophy(MCD).However,there were few reports about whether the consistent results were obtained when performing DALK in both eyes for MCD,especially when the corneal grafts were taken from different donors.Also,there were few reports about whether the stromal graft rejection occurred typically in both eyes in MCD with DALK.This case may represent the first report of an unusual and misleading manifestation of stromal graft rejection after uneventful DALK with big bubble technique in the fellow eye in MCD.A 32-year-old healthy man with MCD underwent bilateral uneventful DALK with a big bubble technique in the left eye in January and the right eye in July,the corneal grafts were taken from different donors.There was an atypical allograft rejection that occurred in the right eye and none in the left eye;although a timely diagnosis of graft rejection revealed following aqueous determination,it could not be reversed and underwent PK finally.The purpose of this case report is to illustrate the identification of atypical allograft rejection after DALK in the fellow eye,the significance of aqueous detection in the diagnosis of graft rejection,the choosing of grafts,and the timing of bilateral corneal transplantation in patients with MCD.

超声乳化吸除术治疗白内障合并Fuchs角膜内皮营养不良患者的临床效果

目的观察超声乳化吸除术治疗白内障合并Fuchs角膜内皮营养不良患者的临床效果。方法将2014年1月至2020年12月在我院诊断为白内障合并Fuchs角膜内皮营养不良且行超声乳化吸除术联合人工晶体植入术的20例患者纳入试验组,将同一时期诊断为白内障,角膜正常且行超声乳化吸除术联合人工晶体植入术的20例患者纳入对照组。检查两组术前、术后的视力、眼压,记录最佳矫正视力;用裂隙灯显微镜观察角膜情况;用角膜激光共焦显微镜观察角膜内皮细胞形态并计算角膜内皮细胞密度、六边形细胞比例、角膜内皮细胞丢失率。结果两组术后最佳矫正视力均明显提高;两组术前及术后的眼压均未见明显异常。术后3个月,试验组的角膜内皮细胞密度、六边形细胞比例低于对照组(P<0.05);试验组的角膜内皮细胞丢失率高于对照组(P<0.001)。结论超声乳化吸除术治疗白内障合并Fuchs角膜内皮营养不良患者的临床效果显著,但内皮细胞的损失程度较具有正常角膜的白内障患者更高。

长波紫外线照射小鼠角膜构建Fuchs角膜内皮营养不良疾病模型的可行性研究

背景Fuchs角膜内皮营养不良(Fuchs endothelial corneal dystrophy,FECD)是一种常见的角膜内皮疾病,其具体发病机制尚不明确,临床治疗效果不佳。目的研究长波紫外线(ultraviolet A,UVA)照射小鼠角膜构建迟发型FECD动物模型的可靠性和稳定性。方法取雌性和雄性小鼠各36只,使用波长为365 nm的紫外光照射小鼠右眼角膜作为UVA组,左眼不做处理作为对照组。于建模后1周、2周、4周进行观察并采集样本,分别采用免疫荧光染色、苏木精-伊红(hematoxylin-eosin,HE)染色和透射电子显微镜进行观察,每组4个样本。裂隙灯显微镜观察角膜透明度、前节OCT观察角膜厚度、活体共聚焦显微镜观察角膜内皮细胞数量及形态。结果裂隙灯照相及前节OCT显示UVA组较对照组小鼠角膜水肿混浊、增厚(P<0.05);活体共聚焦显微镜结果显示小鼠角膜内皮细胞扩大变形伴数量减少(P<0.05),此外在第4周时观察到赘生物“Guttae”的形成,这是FECD的显著病理特征之一;免疫荧光染色(ZO-1/DAPI)结果显示小鼠角膜内皮细胞扩大变形且胞间紧密连接程度下降,DAPI染色细胞核计数下降(P<0.05);HE染色可见UVA照射后小鼠角膜基质胶原纤维疏松水肿伴间隙增大、角膜增厚,内皮细胞受损;透射电子显微镜显示UVA组小鼠角膜内皮细胞中线粒体结构遭到破坏,后弹力层较对照组显著增厚(P<0.05)。结论本研究证实了UVA照射小鼠角膜诱导迟发型FECD动物模型的可行性;该模型呈现的角膜后弹力层增厚和内皮细胞损伤等特征与FECD病理特征相吻合。

脉络膜脱离1例

61岁男性,因“左眼前黑影遮挡伴视力下降近2周”就诊。患者4年前、2年前和1年前分别行左眼小梁切除术,右眼穿透性角膜移植术和右眼白内障超声乳化+人工晶状体(IOL)植入术。半年前因左眼颗粒状角膜营养不良,于我院行左眼深板层角膜移植术,手术顺利,术后规律复诊。左眼角膜移植术后3个月和4个月,分别行左眼部分角膜缝线拆除,左眼白内障超声乳化+人工晶体植入术。左眼角膜移植术后半年,再次行左眼角膜缝线拆除。此次拆线术后2周至门诊复诊,主诉“左眼前黑影遮挡伴视力下降近2周”,查体如下。裸眼视力:左眼CF/10 cm;眼压:左眼5 mmHg。左眼角膜植片透明,位置良好,前房清,瞳孔圆,光反射存在,IOL明。眼底:左眼脉络膜广泛脱离,未查见裂孔及出血。B超查及脉络膜脱离回声。经扩瞳、局部及全身抗炎治疗5天后,脉络膜脱离仍未见明显好转,遂决定行左眼玻璃体切除+脉络膜脱离复位术。术中可放出大量微黄色脉络膜上腔液体,复位脉络膜,未见视网膜裂孔,术毕气体填充,术后患者脉络膜复位良好,视力逐渐提高。追问病史,患者第2次角膜拆线过程中,痛感非常明显,术中高度紧张,存在用力屏气过程。讨论体会:患者角膜拆线时的Valsava动作很有可能是该例脉络膜脱离发生的原因,要详细了解病情,做好术前沟通、加强人文关怀,术中充分麻醉,密切关注患者术中情况,做好患教工作,术后尽早随访,以便及时发现特殊并发症。

The role of corneal endothelium in macular corneal dystrophy development and recurrence

Macular corneal dystrophy(MCD)is a progressive,bilateral stromal dystrophic disease that arises from mutations in carbohydrate sulfotransferase 6(CHST6).Corneal transplantation is the ultimate therapeutic solution for MCD patients.Unfortunately,postoperative recurrence remains a significant challenge.We conducted a retrospective review of a clinical cohort comprising 102 MCD patients with 124 eyes that underwent either penetrating keratoplasty(PKP)or deep anterior lamellar keratoplasty(DALK).Our results revealed that the recurrence rate was nearly three times higher in the DALK group(39.13%,9/23 eyes)compared with the PKP group(10.89%,11/101 eyes),suggesting that surgical replacement of the corneal endothelium for treating MCD is advisable to prevent postoperative recurrence.Our experimental data confirmed the robust m RNA and protein expression of CHST6 in human corneal endothelium and the rodent homolog CHST5 in mouse endothelium.Selective knockdown of wild-type Chst5 in mouse corneal endothelium(AC^(siChst5)),but not in the corneal stroma,induced experimental MCD with similar extracellular matrix synthesis impairments and corneal thinning as observed in MCD patients.Mice carrying Chst5 point mutation also recapitulated clinical phenotypes of MCD,along with corneal endothelial abnormalities.Intracameral injection of wild-type Chst5 rescued the corneal impairments in AC^(siChst5)mice and retarded the disease progression in Chst5 mutant mice.Overall,our study provides new mechanistic insights and therapeutic approaches for MCD treatment by highlighting the role of corneal endothelium in MCD development.