Effect of lens surgery on health-related quality of life in preschool children with congenital ectopia lentis

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.

Trends and characteristics of congenital ectopia lentis in China

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.

Agreement of corneal curvature and central corneal thickness obtained from a swept-source OCT and Pentacam in ectopia lentis patients

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.

Evaluation of functional outcome and stability of sutureless scleral tunnel fixated IOLs in children with ectopia lentis

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.

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family

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.

Surgical management of non-syndromic ectopia lentis

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.

Modern Surgical Treatment of Congenital Subluxated Lenses

Traditional surgical management of subluxated lenses is usuallyassociated with a high incidence of operative and postoperative complicationand a poor visual outcome.We treated a series of 14 patients(26 eyes)whose visual acuity could not be improved with optical correction(phakic oraphakic)with modern microsurgery and automated suction-cutting devices.Preoperative visual acuity ranged from 0.05 to 0.3.Improvement in post-opera-tive visual acuity was documented in all operated eyes,ranging from 0.4 to 1....