AIM:To evaluate the effect of lens surgery on health-related quality of life(HRQoL)of preschool children with congenital ectopia lentis(CEL).METHODS:A prospective self-controlled study was conducted in Zhongshan Ophth...AIM:To evaluate the effect of lens surgery on health-related quality of life(HRQoL)of preschool children with congenital ectopia lentis(CEL).METHODS:A prospective self-controlled study was conducted in Zhongshan Ophthalmic Center.Children aged from 5 to 7y whom were diagnosed with CEL and underwent phacoemulsification with scleral-fixated posterior chamber intraocular lens implantation and their parents were enrolled in this study.All of them completed the child and proxy(parental)PedsQL™4.0 before and after the surgery.Their preoperative scores were compared to their postoperative ones.Subgroup analyses were performed based on gender and preoperative bilateral presenting visual acuity of the children.RESULTS:Thirty-two children with CEL successfully underwent surgery without any complications,among whom 8 had monocular surgery and 24 had binocular surgery.Preoperative and postoperative questionnaires were completed by 32 child-parent pairs.Surgical intervention could significantly improve the vision of affected children(P<0.001).The medians of physical,psychosocial and total health scores self-reported by the children were 68.75(62.50,81.25),65.00(60.00,80.00)and 67.39(60.87,78.26)preoperatively and were 93.75(87.50,100.00),90.00(83.33,96.67)and 89.13(85.32,95.65)postoperatively.The preoperative scores of the affected children were significantly lower in all scales than age-matched healthy children(P<0.001).All the postoperative scores were significantly higher than the preoperative scores in affected children and their parents(P<0.001).In the physical functioning evaluation,the preoperative score reported by parents of girls was higher than parents of boys(P=0.041),and the postoperative score of girls was higher than that of boys(P=0.036).CONCLUSION:CEL is associated with significantly worse quality of life in preschool children.Surgical intervention can significantly improve the HRQoL in affected children from both personal and family perspective.展开更多
BACKGROUND Crossed renal ectopia(CRE)occurs when one kidney crosses the midline from the primary side to the contralateral side while the ureter remains on the primary side.Rectal cancer,one of the most common maligna...BACKGROUND Crossed renal ectopia(CRE)occurs when one kidney crosses the midline from the primary side to the contralateral side while the ureter remains on the primary side.Rectal cancer,one of the most common malignant tumors of the digestive tract,refers to cancer from the dentate line to the rectosigmoid junction.The concurrent presentation of CRE alongside rectal cancer is an uncommon clinical observation.CASE SUMMARY Herein,we report a 69-year-old male patient with rectal cancer who was diagnosed with CRE via computed tomography during hospitalization.Following thorough preoperative evaluations,the patient underwent Dixon surgery.CONCLUSION We performed laparoscopic radical resection of rectal cancer and adequate lymph node removal in a patient with CRE with no postoperative discomfort.展开更多
Pubo-penile testicular ectopia is a rare congenital malformation whose etiopathogenesis remains poorly understood. It represents other testicular ectopias less than 1% of all testicular migration disorders. We report ...Pubo-penile testicular ectopia is a rare congenital malformation whose etiopathogenesis remains poorly understood. It represents other testicular ectopias less than 1% of all testicular migration disorders. We report a clinical observation of a 4-month-old infant who consulted for swelling at the root of the penis associated with vacuity of the right hemi scrotum. An inguinal ultrasound was performed which confirmed the presence of the right testicle. An orchidopexy was performed at 4 months of life by an inguinal approach, the postoperative course was simple with a follow-up of 6 months.展开更多
Crossed renal ectopia is the second most common fusion anomaly of the kidney after horseshoe kidney. The incidence of both fused and unfused cases is 1 in 7000 in autopsies. The unfused crossed renal ectopia is much r...Crossed renal ectopia is the second most common fusion anomaly of the kidney after horseshoe kidney. The incidence of both fused and unfused cases is 1 in 7000 in autopsies. The unfused crossed renal ectopia is much rare with an incidence of 1/75000 in autopsies. Ninety percent ofectopic kidneys are fused to their ipsilateral mate and the ureter of the ectopic kidney inserts into its normal position in the bladder at the contralateral side. But demonstration of the anomaly may provide to search for accompanying congenital anomalies and to plan a follow-up program for possible future complications in most of the cases. However it may remain asymptomatic for years as in the patients. Here the authors are presenting a 64-year-old male patient, with a right sided unfused crossed renal ectopia anomaly without any complaints until this age.展开更多
AIM： To elucidate the trends and characteristics of congenital ectopia lentis（CEL） in southern China.METHODS： CEL patients from China admitted to Zhongshan Ophthalmic Center（ZOC） from January 2006 to December 20...AIM： To elucidate the trends and characteristics of congenital ectopia lentis（CEL） in southern China.METHODS： CEL patients from China admitted to Zhongshan Ophthalmic Center（ZOC） from January 2006 to December 2015 were recruited in our study. Residence, gender, hospitalization time, age at surgery, and the presence of other ocular abnormalities and system disease were statistically analyzed in different subgroups.RESULTS： Four hundred and thirty-seven hospitalizations（306 in-patients） diagnosed with CEL from a total of 283 308 hospitalizations were identified, which accounted for 0.15% of the total in-patients. Of the identified CEL in-patients, the total ratio of boys to girls was 2.22：1. Based on a subgroup analysis according to age, patients aged 12-18 years old constituted the highest proportion（31.70%） of all hospitalized CEL patients, and those 0-3 year old constituted the lowest proportion（8.82%） of the total number. The number of CEL increased from 18 to 72 and the hospital based prevalence increased from 8.60% to 18.10% from 2006 to 2015, and the average age at surgery decreased from 9 years old in 2006 to 7.6 years old in 2015. CONCLUSION： The results reveal upward trends in both the number of CEL hospitalizations and hospital based prevalence of CEL in this 10-year study period, but a reduction in the age at surgery, which may reflect the increase of public awareness of children＇s eye care in China.展开更多
AIM:To assess the inter-device consistency of corneal curvature and central corneal thickness between Pentacam and a swept-source Fourier-domain anterior segment optical coherence tomography(AS-OCT)in ectopia lentis p...AIM:To assess the inter-device consistency of corneal curvature and central corneal thickness between Pentacam and a swept-source Fourier-domain anterior segment optical coherence tomography(AS-OCT)in ectopia lentis patients.METHODS:Totally 72 eyes of ectopia lentis patients were recruited.Central corneal thickness(CCT),corneal curvature values and corneal astigmatism were obtained from both the Pentacam and AS-OCT(CASIA2).Repeatability was evaluated for both devices.The coef ficient of repeatability(COR)and the relative COR was calculated.Bland-Altman plots were conducted to evaluate the interdevice agreement of measurement.Orthogonal linear regression was used to examine any proportional bias.RESULTS:The mean difference of CCT,steep anterior corneal cur vature(anterior K_S),flat anterior corneal curvature(anterior K_f),anterior corneal astigmatism(ACA),steep posterior corneal cur vature(posterior K_S),flat posterior corneal cur vature(posterior K_f),posterior corneal astigmatism(PCA),steep true net power(TNP K_S),flat true net power(TNP K_f)and total corneal astigmatism(TCA)between Pentacam and CASIA2 were 7.03±9.70μm,-0.19±0.41 D,-0.27±0.35 D,0.04±0.47 D,-0.17±0.23 D,-0.11±0.11 D,-0.02±1.02 D-0.41±0.43 D,-0.52±0.46 D,and-0.15±0.96 D,respectively.For measurement of TNP K_f with the Pentacam and CASIA2,a mean difference of 0.52 D and COR of 0.90 with P=0.02 was detected.There was no significant difference in CCT(P=0.393),anterior K_f(P=0.107),anteriorKs(P=0.414),ACA(P=0.131),posterior K_f(P=0.286),posterior Ks(P=0.418),PCA(P=0.105),TNP Ks(P=0.054),and TCA(P=0.977)between Pentacam and CASIA2.CONCLUSION:Our study reveals good agreement of CCT,corneal curvature and corneal astigmatism measured by CASIA2 and Pentacam in ectopia lentis patients.However,there was significant difference for CCT and corneal curvature values obtained by the two devices.展开更多
AIM:To evaluate functional outcome of sutureless scleral tunnel intraocular lens(SSTIOL)in children with crystalline lens subluxation of more than 7 clock hours.METHODS:A prospective interventional study was conducted...AIM:To evaluate functional outcome of sutureless scleral tunnel intraocular lens(SSTIOL)in children with crystalline lens subluxation of more than 7 clock hours.METHODS:A prospective interventional study was conducted consisting of 45 eyes of 44 children in age group 6-18 y having>7 clock hours of lens subluxation who underwent lensectomy-vitrectomy followed by SSTIOL implantation.Primary outcome was improvement in best corrected visual acuity(BCVA)and secondary outcomes were assessment of intraocular lens(IOL)tilt using ultrasound biomicroscopy(UBM),mean change in astigmatism at last follow-up of 1 y and associated complications.RESULTS:The mean preoperative and postoperative BCVA was 1.05±0.28 and 0.64±0.45(log MAR)respectively(P=0.001)at last follow-up.The mean astigmatism preoperatively and postoperatively was-4.17±2.69 D and-1.86±1.25 D respectively(P=0.011).Significant IOL tilt(>5 degrees)was present in 5 cases.The mean percentage endothelial loss was 3.65%±1.92%.The most serious complication encountered was retinal detachment seen in 2 cases.CONCLUSION:SSTIOL implantation provides efficient visual rehabilitation in children provided there is stringent case selection.We recommend caution in children having white-to-white distance>12 mm and presence of peripheral retinal degenerations.展开更多
AIM: To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS). METHODS: Patients and their family members were given complete physical, ophthalmic, and cardiovascular examin...AIM: To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS). METHODS: Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the fibrillin -1 (FBN1) gene by bi -directional sequencing of the amplified products. The mutation was analyzed using two bioinformatics methods. RESULTS: A novel heterozygous c.305G>A mutation in exon 3 of FBN1 was detected. As a result of this change, a highly conserved cysteine residue was replaced by a tyrosine residue (p.C102Y). Another mutation was found in the same exon (c.303T>C), which did not change the amino acid sequence. Both mutations were discovered in each affected individual, but not in the unaffected family members, or in 100 ethnically matched controls. A bioinformatics analysis predicted that mutation p.C102Y would affect protein function. CONCLUSION: In the first epidermal growth factor-like module, we identified a novel FBN1 mutation (p.C102Y), which caused ELS in the family. Our study presented a unique phenotype, including some distinct ophthalmic findings, such as hypoplasia of the iris and anisometropia. Our results expanded the mutation spectrum of FBN1 and enriched the overall knowledge of genotype-phenotype correlations due to FBN1 mutations.展开更多
Persistent Muellerian duct syndrome （PMDS） is a rare form of male pseudohermaphrodism without the feature of ambiguous genitalia.We present a case of PMDS with transverse testicular ectopia（TTE）.
AIM:To compare whether aphakic contact lenses or secondary iris-claw intraocular lenses are superior in the refractive management post-pars plana vitreolensectomy in a pedigree with an FBN1 mutation causing non-syndro...AIM:To compare whether aphakic contact lenses or secondary iris-claw intraocular lenses are superior in the refractive management post-pars plana vitreolensectomy in a pedigree with an FBN1 mutation causing non-syndromic ectopia lentis(NSEL)with retinal detachment(RD).METHODS:Eight affected individuals had pars plana vitreolensectomy for bilateral ectopia lentis(EL).Twelve eyes of 6 patients had secondary iris-claw intraocular lenses inserted and 4 eyes of 2 patients were managed with contact lenses.Rhegmatogenous retinal detachment(RRD)was treated when necessary.Pre-and post-operative assessment included visual acuity,endothelial cell count and dilated fundal examination.RESULTS:Macula-on RRD was present in all individuals>18 y,64%(7/11 eyes)presenting post-vitreolensectomy with 57%having bilateral non-synchronous RRD.Surgical aphakia was managed with iris-fixated intraocular lenses(IOL group,n=6),or contact lenses(CL group,n=2).Visual acuity≥0.3 log MAR(driving standard)was achieved in 75%of IOL group eyes and 25%of the CL group eyes.Mean loss of corneal endothelial cell count in the IOL group was 4%at 2 y post-operative.CONCLUSION:In this cohort,refractive management with iris-claw IOLs provided superior outcomes to contact lenses and the authors recommend this as the optimal refractive correction in EL patients.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
Ectopia cordis(EC)is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen.It can be defined as 0.1%of congenital heart diseases,and it could present isolated o...Ectopia cordis(EC)is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen.It can be defined as 0.1%of congenital heart diseases,and it could present isolated or could belong to the spectrum of the Pentalogy of Cantrell(PoC),which is a rare congenital disorder first described in 1958 by Cantrell.We are reporting a rare case of total ectopia cordis,associated to a major omphalocele,total agenesis of the sternum,anterior diaphragmatic deficiency,absence of pericardium,and persistence of the Ductus arteriosus,making therefore these features compatible with a full spectrum of the Pentalogy of Cantrell,encouraging us to report this case.展开更多
<span style="font-family:Verdana;">Diaphragmatic hernias may be acquired or congenital. Among congenital </span><span style="font-family:;" "=""><span style=&quo...<span style="font-family:Verdana;">Diaphragmatic hernias may be acquired or congenital. Among congenital </span><span style="font-family:;" "=""><span style="font-family:Verdana;">hernias, the most common is Bochdalek hernia and eight out of ten Bochdalek hernias occur on the left side. They are usually diagnosed in the paediatric age group, and it is exceedingly rare for the diagnosis to be established in adulthood. Renal ectopy associated with a Bochdalek hernia is extremely rare, and </span><span style="font-family:Verdana;">very few cases are reported worldwide. We are reporting a case of a</span><span style="font-family:Verdana;"> 73-year-old </span><span style="font-family:Verdana;">male patient with a right-sided Bochdalek hernia and renal ectopy. In this</span> <span style="font-family:Verdana;">case, promp diagnosis and treatment could help to reduce the high risk of</span><span style="font-family:Verdana;"> death in this kind of patients.</span></span>展开更多
Areview of the literature on ectopic prostatic tissue reveals about 200 reports dating back to as early as 1894. The presence of prostate tissue outside the genitourinary system is extremely rare. It is usually incide...Areview of the literature on ectopic prostatic tissue reveals about 200 reports dating back to as early as 1894. The presence of prostate tissue outside the genitourinary system is extremely rare. It is usually incidentally found in surgical pathology and autopsy. Including the present case, there are only 16 cases of ectopic prostatic tissue outside the genitourinary system reported.展开更多
基金Supported by the National Natural Science Foundation of China(No.81873673)the Basic and Applied Basic Research Foundation of Guangdong Province(No.2021A1515011673).
文摘AIM:To evaluate the effect of lens surgery on health-related quality of life(HRQoL)of preschool children with congenital ectopia lentis(CEL).METHODS:A prospective self-controlled study was conducted in Zhongshan Ophthalmic Center.Children aged from 5 to 7y whom were diagnosed with CEL and underwent phacoemulsification with scleral-fixated posterior chamber intraocular lens implantation and their parents were enrolled in this study.All of them completed the child and proxy(parental)PedsQL™4.0 before and after the surgery.Their preoperative scores were compared to their postoperative ones.Subgroup analyses were performed based on gender and preoperative bilateral presenting visual acuity of the children.RESULTS:Thirty-two children with CEL successfully underwent surgery without any complications,among whom 8 had monocular surgery and 24 had binocular surgery.Preoperative and postoperative questionnaires were completed by 32 child-parent pairs.Surgical intervention could significantly improve the vision of affected children(P<0.001).The medians of physical,psychosocial and total health scores self-reported by the children were 68.75(62.50,81.25),65.00(60.00,80.00)and 67.39(60.87,78.26)preoperatively and were 93.75(87.50,100.00),90.00(83.33,96.67)and 89.13(85.32,95.65)postoperatively.The preoperative scores of the affected children were significantly lower in all scales than age-matched healthy children(P<0.001).All the postoperative scores were significantly higher than the preoperative scores in affected children and their parents(P<0.001).In the physical functioning evaluation,the preoperative score reported by parents of girls was higher than parents of boys(P=0.041),and the postoperative score of girls was higher than that of boys(P=0.036).CONCLUSION:CEL is associated with significantly worse quality of life in preschool children.Surgical intervention can significantly improve the HRQoL in affected children from both personal and family perspective.
文摘BACKGROUND Crossed renal ectopia(CRE)occurs when one kidney crosses the midline from the primary side to the contralateral side while the ureter remains on the primary side.Rectal cancer,one of the most common malignant tumors of the digestive tract,refers to cancer from the dentate line to the rectosigmoid junction.The concurrent presentation of CRE alongside rectal cancer is an uncommon clinical observation.CASE SUMMARY Herein,we report a 69-year-old male patient with rectal cancer who was diagnosed with CRE via computed tomography during hospitalization.Following thorough preoperative evaluations,the patient underwent Dixon surgery.CONCLUSION We performed laparoscopic radical resection of rectal cancer and adequate lymph node removal in a patient with CRE with no postoperative discomfort.
文摘Pubo-penile testicular ectopia is a rare congenital malformation whose etiopathogenesis remains poorly understood. It represents other testicular ectopias less than 1% of all testicular migration disorders. We report a clinical observation of a 4-month-old infant who consulted for swelling at the root of the penis associated with vacuity of the right hemi scrotum. An inguinal ultrasound was performed which confirmed the presence of the right testicle. An orchidopexy was performed at 4 months of life by an inguinal approach, the postoperative course was simple with a follow-up of 6 months.
文摘Crossed renal ectopia is the second most common fusion anomaly of the kidney after horseshoe kidney. The incidence of both fused and unfused cases is 1 in 7000 in autopsies. The unfused crossed renal ectopia is much rare with an incidence of 1/75000 in autopsies. Ninety percent ofectopic kidneys are fused to their ipsilateral mate and the ureter of the ectopic kidney inserts into its normal position in the bladder at the contralateral side. But demonstration of the anomaly may provide to search for accompanying congenital anomalies and to plan a follow-up program for possible future complications in most of the cases. However it may remain asymptomatic for years as in the patients. Here the authors are presenting a 64-year-old male patient, with a right sided unfused crossed renal ectopia anomaly without any complaints until this age.
基金Supported by Medical Scientific Research Foundation of Guangdong Province,China(No.A2015490)Science and Technology Planning Project of Guangdong Province,China(No.2014A020212106)
文摘AIM： To elucidate the trends and characteristics of congenital ectopia lentis（CEL） in southern China.METHODS： CEL patients from China admitted to Zhongshan Ophthalmic Center（ZOC） from January 2006 to December 2015 were recruited in our study. Residence, gender, hospitalization time, age at surgery, and the presence of other ocular abnormalities and system disease were statistically analyzed in different subgroups.RESULTS： Four hundred and thirty-seven hospitalizations（306 in-patients） diagnosed with CEL from a total of 283 308 hospitalizations were identified, which accounted for 0.15% of the total in-patients. Of the identified CEL in-patients, the total ratio of boys to girls was 2.22：1. Based on a subgroup analysis according to age, patients aged 12-18 years old constituted the highest proportion（31.70%） of all hospitalized CEL patients, and those 0-3 year old constituted the lowest proportion（8.82%） of the total number. The number of CEL increased from 18 to 72 and the hospital based prevalence increased from 8.60% to 18.10% from 2006 to 2015, and the average age at surgery decreased from 9 years old in 2006 to 7.6 years old in 2015. CONCLUSION： The results reveal upward trends in both the number of CEL hospitalizations and hospital based prevalence of CEL in this 10-year study period, but a reduction in the age at surgery, which may reflect the increase of public awareness of children＇s eye care in China.
基金Supported by National Natural Science Foundation of China(No.81873673,No.81900841)the Fundamental Research Funds of the State Key Laboratory of Ophthalmology(No.30306020240020212)the Young Teachers Training Program of Sun Yat-sen University(No.20ykpy143)。
文摘AIM:To assess the inter-device consistency of corneal curvature and central corneal thickness between Pentacam and a swept-source Fourier-domain anterior segment optical coherence tomography(AS-OCT)in ectopia lentis patients.METHODS:Totally 72 eyes of ectopia lentis patients were recruited.Central corneal thickness(CCT),corneal curvature values and corneal astigmatism were obtained from both the Pentacam and AS-OCT(CASIA2).Repeatability was evaluated for both devices.The coef ficient of repeatability(COR)and the relative COR was calculated.Bland-Altman plots were conducted to evaluate the interdevice agreement of measurement.Orthogonal linear regression was used to examine any proportional bias.RESULTS:The mean difference of CCT,steep anterior corneal cur vature(anterior K_S),flat anterior corneal curvature(anterior K_f),anterior corneal astigmatism(ACA),steep posterior corneal cur vature(posterior K_S),flat posterior corneal cur vature(posterior K_f),posterior corneal astigmatism(PCA),steep true net power(TNP K_S),flat true net power(TNP K_f)and total corneal astigmatism(TCA)between Pentacam and CASIA2 were 7.03±9.70μm,-0.19±0.41 D,-0.27±0.35 D,0.04±0.47 D,-0.17±0.23 D,-0.11±0.11 D,-0.02±1.02 D-0.41±0.43 D,-0.52±0.46 D,and-0.15±0.96 D,respectively.For measurement of TNP K_f with the Pentacam and CASIA2,a mean difference of 0.52 D and COR of 0.90 with P=0.02 was detected.There was no significant difference in CCT(P=0.393),anterior K_f(P=0.107),anteriorKs(P=0.414),ACA(P=0.131),posterior K_f(P=0.286),posterior Ks(P=0.418),PCA(P=0.105),TNP Ks(P=0.054),and TCA(P=0.977)between Pentacam and CASIA2.CONCLUSION:Our study reveals good agreement of CCT,corneal curvature and corneal astigmatism measured by CASIA2 and Pentacam in ectopia lentis patients.However,there was significant difference for CCT and corneal curvature values obtained by the two devices.
文摘AIM:To evaluate functional outcome of sutureless scleral tunnel intraocular lens(SSTIOL)in children with crystalline lens subluxation of more than 7 clock hours.METHODS:A prospective interventional study was conducted consisting of 45 eyes of 44 children in age group 6-18 y having>7 clock hours of lens subluxation who underwent lensectomy-vitrectomy followed by SSTIOL implantation.Primary outcome was improvement in best corrected visual acuity(BCVA)and secondary outcomes were assessment of intraocular lens(IOL)tilt using ultrasound biomicroscopy(UBM),mean change in astigmatism at last follow-up of 1 y and associated complications.RESULTS:The mean preoperative and postoperative BCVA was 1.05±0.28 and 0.64±0.45(log MAR)respectively(P=0.001)at last follow-up.The mean astigmatism preoperatively and postoperatively was-4.17±2.69 D and-1.86±1.25 D respectively(P=0.011).Significant IOL tilt(>5 degrees)was present in 5 cases.The mean percentage endothelial loss was 3.65%±1.92%.The most serious complication encountered was retinal detachment seen in 2 cases.CONCLUSION:SSTIOL implantation provides efficient visual rehabilitation in children provided there is stringent case selection.We recommend caution in children having white-to-white distance>12 mm and presence of peripheral retinal degenerations.
基金Supported by National Natural Science Foundation of China(No.81371001)Key Program of the National Natural Science Foundation of China(No.81130018)+3 种基金Zhejiang Provincial Natural Science Foundation of China(No.LQ13H120002)Zhejiang Key Innovation Team Project of China(No.2009R50039)Zhejiang Key Laboratory Fund of China(No.2011E10006)Project of National Clinical Key Discipline of the Chinese Ministry of Health
文摘AIM: To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS). METHODS: Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the fibrillin -1 (FBN1) gene by bi -directional sequencing of the amplified products. The mutation was analyzed using two bioinformatics methods. RESULTS: A novel heterozygous c.305G>A mutation in exon 3 of FBN1 was detected. As a result of this change, a highly conserved cysteine residue was replaced by a tyrosine residue (p.C102Y). Another mutation was found in the same exon (c.303T>C), which did not change the amino acid sequence. Both mutations were discovered in each affected individual, but not in the unaffected family members, or in 100 ethnically matched controls. A bioinformatics analysis predicted that mutation p.C102Y would affect protein function. CONCLUSION: In the first epidermal growth factor-like module, we identified a novel FBN1 mutation (p.C102Y), which caused ELS in the family. Our study presented a unique phenotype, including some distinct ophthalmic findings, such as hypoplasia of the iris and anisometropia. Our results expanded the mutation spectrum of FBN1 and enriched the overall knowledge of genotype-phenotype correlations due to FBN1 mutations.
文摘Persistent Muellerian duct syndrome （PMDS） is a rare form of male pseudohermaphrodism without the feature of ambiguous genitalia.We present a case of PMDS with transverse testicular ectopia（TTE）.
基金Supported by Health Research Board IrelandScience Foundation Ireland+1 种基金Fighting Blindness IrelandMedical Research Charities Group Ireland。
文摘AIM:To compare whether aphakic contact lenses or secondary iris-claw intraocular lenses are superior in the refractive management post-pars plana vitreolensectomy in a pedigree with an FBN1 mutation causing non-syndromic ectopia lentis(NSEL)with retinal detachment(RD).METHODS:Eight affected individuals had pars plana vitreolensectomy for bilateral ectopia lentis(EL).Twelve eyes of 6 patients had secondary iris-claw intraocular lenses inserted and 4 eyes of 2 patients were managed with contact lenses.Rhegmatogenous retinal detachment(RRD)was treated when necessary.Pre-and post-operative assessment included visual acuity,endothelial cell count and dilated fundal examination.RESULTS:Macula-on RRD was present in all individuals>18 y,64%(7/11 eyes)presenting post-vitreolensectomy with 57%having bilateral non-synchronous RRD.Surgical aphakia was managed with iris-fixated intraocular lenses(IOL group,n=6),or contact lenses(CL group,n=2).Visual acuity≥0.3 log MAR(driving standard)was achieved in 75%of IOL group eyes and 25%of the CL group eyes.Mean loss of corneal endothelial cell count in the IOL group was 4%at 2 y post-operative.CONCLUSION:In this cohort,refractive management with iris-claw IOLs provided superior outcomes to contact lenses and the authors recommend this as the optimal refractive correction in EL patients.
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.
文摘Ectopia cordis(EC)is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen.It can be defined as 0.1%of congenital heart diseases,and it could present isolated or could belong to the spectrum of the Pentalogy of Cantrell(PoC),which is a rare congenital disorder first described in 1958 by Cantrell.We are reporting a rare case of total ectopia cordis,associated to a major omphalocele,total agenesis of the sternum,anterior diaphragmatic deficiency,absence of pericardium,and persistence of the Ductus arteriosus,making therefore these features compatible with a full spectrum of the Pentalogy of Cantrell,encouraging us to report this case.
文摘<span style="font-family:Verdana;">Diaphragmatic hernias may be acquired or congenital. Among congenital </span><span style="font-family:;" "=""><span style="font-family:Verdana;">hernias, the most common is Bochdalek hernia and eight out of ten Bochdalek hernias occur on the left side. They are usually diagnosed in the paediatric age group, and it is exceedingly rare for the diagnosis to be established in adulthood. Renal ectopy associated with a Bochdalek hernia is extremely rare, and </span><span style="font-family:Verdana;">very few cases are reported worldwide. We are reporting a case of a</span><span style="font-family:Verdana;"> 73-year-old </span><span style="font-family:Verdana;">male patient with a right-sided Bochdalek hernia and renal ectopy. In this</span> <span style="font-family:Verdana;">case, promp diagnosis and treatment could help to reduce the high risk of</span><span style="font-family:Verdana;"> death in this kind of patients.</span></span>
文摘Areview of the literature on ectopic prostatic tissue reveals about 200 reports dating back to as early as 1894. The presence of prostate tissue outside the genitourinary system is extremely rare. It is usually incidentally found in surgical pathology and autopsy. Including the present case, there are only 16 cases of ectopic prostatic tissue outside the genitourinary system reported.
