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Congenital Cataract

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1. The role of primary intraocular lens implantation in the risk of secondary glaucoma following congenital cataract surgery: A systematic review and meta-analysis. (PubMed)

The role of primary intraocular lens implantation in the risk of secondary glaucoma following congenital cataract surgery: A systematic review and meta-analysis. This meta-analysis aims to evaluate the incidence of secondary glaucoma in patients under the age of 2 years who underwent congenital cataract surgery with or without primary intraocular lens (IOL) implantation.An electronic literature search was performed in Medline, EMBASE, and Web of Science databases to retrieve studies between (...) January 2011 and November 2018. Patients with congenital cataract who did primary IOL implantation, aphakia, or secondary IOL implantation followed by receiving extraction surgery were included in this study. Relevant studies meeting defined eligibility criteria were selected and reviewed systematically by meta-analysis. Long-term incidences of secondary glaucoma, which developed at least one year after cataract surgery, were considered and discussed as clinical outcomes in each cohort. The pooled

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2019 PLoS ONE

2. Does Cataract Morphology Affect the Risk of Glaucoma Following Cataract Surgery in Infants with a Unilateral Congenital Cataract (PubMed)

Does Cataract Morphology Affect the Risk of Glaucoma Following Cataract Surgery in Infants with a Unilateral Congenital Cataract 29335108 2018 11 13 1873-4502 43 12 2017 Dec Journal of cataract and refractive surgery J Cataract Refract Surg Cataract morphology and risk for glaucoma after cataract surgery in infants with unilateral congenital cataract. 1611-1612 S0886-3350(17)30751-4 10.1016/j.jcrs.2017.10.032 Traboulsi Elias I EI Freedman Sharon F SF Wilson M Edward ME Jr Lambert Scott R SR (...) Infant Aphakia Treatment Study Group eng UG1 EY013287 EY NEI NIH HHS United States UG1 EY025553 EY NEI NIH HHS United States UG1 EY013272 EY NEI NIH HHS United States U10 EY013272 EY NEI NIH HHS United States U10 EY013287 EY NEI NIH HHS United States Letter United States J Cataract Refract Surg 8604171 0886-3350 2017 09 30 2017 10 14 2018 1 17 6 0 2018 1 18 6 0 2018 1 18 6 0 ppublish 29335108 S0886-3350(17)30751-4 10.1016/j.jcrs.2017.10.032 PMC5947859 NIHMS950779 JAMA Ophthalmol. 2015 Aug;133(8):907

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2017 Journal of cataract and refractive surgery

3. Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis (PubMed)

Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form. There are more than 100 genes associated with cataract with a predominance of autosomal dominant inheritance. A cataract is defined as an opacity of the lens producing a variation of the refractive index of the lens (...) . This variation derives from modifications in the lens structure resulting in light scattering, frequently a consequence of a significant concentration of high-molecular-weight protein aggregates. The aim of this review is to introduce a guide to identify the gene involved in inherited CC. Due to the manifold clinical and genetic heterogeneity, we discarded the cataract phenotype as a cardinal sign; a 4-group classification with the genes implicated in inherited CC is proposed. We consider

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2017 Molecular syndromology

4. Analysis of Factors Associated with the Ocular Features of Congenital Cataract Children in the Shanghai Pediatric Cataract Study (PubMed)

Analysis of Factors Associated with the Ocular Features of Congenital Cataract Children in the Shanghai Pediatric Cataract Study To investigate the ocular features of children with congenital cataract in a tertiary referral eye center in East China.We retrospectively reviewed the clinical data of congenital cataract children who underwent cataract surgery between April 2009 and April 2014 at the Eye and ENT Hospital of Fudan University and identified factors associated with the axial length (...) cataract eyes than in bilateral cataract eyes after adjusting for age and gender (P = 0.004). In children with unilateral cataract, AXL was significantly longer in the affected eye than in the contralateral eye (P < 0.001).Age, gender, and cataract laterality together contribute to the development of ocular features of congenital cataract children, especially for AXL.

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2017 Journal of ophthalmology

5. Children with congenital and childhood cataract require frequent follow-up visits and examinations in general anaesthesia: considerations for the strain on families. (PubMed)

Children with congenital and childhood cataract require frequent follow-up visits and examinations in general anaesthesia: considerations for the strain on families. Children with cataract require frequent monitoring to detect complications, adjust refractive correction and treat amblyopia. This is time consuming for the families. The aim of the study was to evaluate how often children with cataract are seen as outpatients or under general anaesthesia during the first 7 years of life.We (...) performed a retrospective chart review of all children with congenital and childhood cataract born between 2000 primo and 2017 seen at our institution. The cumulated number of outpatient visits and examinations and/or surgeries in general anaesthesia was extracted for age 1, 3, 5 and 7 years.Children who had cataract surgery were seen significantly more often than children without surgery. During the first year of life, children with bilateral surgery had a median of nine outpatient visits, children

2019 Acta ophthalmologica

6. Evaluation of changes in axial length after congenital cataract surgery. (PubMed)

Evaluation of changes in axial length after congenital cataract surgery. To investigate the relationship between lens status and axial length (AL) in patients operated for unilateral and bilateral congenital cataract.Yüzüncü Yıl University, Ophthalmology Clinic, Van, Turkey.Retrospective study.Records of patients who underwent surgery for unilateral or bilateral congenital cataract were analyzed. The patients were separated into three groups: bilateral aphakic, bilateral pseudophakic (...) , and unilateral. The unilateral group was subdivided into the operated cataract eyes (unilateral aphakic and unilateral pseudophakic) and unoperated fellow phakic eyes. The patients' age at surgery, follow-up time, preoperative and postoperative AL measurements, change in AL, and monthly growth rate were evaluated.The bilateral aphakic group included 40 eyes of 20 patients, the bilateral pseudophakic group included 103 eyes of 54 patients, and the unilateral group included 40 eyes of 20 patients. The mean age

2019 Journal of cataract and refractive surgery

7. COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective. (PubMed)

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective. COL4A1 mutations present with a spectrum of clinical phenotypes often involving the cerebrovascular and ophthalmic systems. We report 2 cases of COL4A1 mutations that presented with congenital cataracts and porencephaly. Both patients had posterior cortical cataracts and radiographically defined bilateral posterior lenticonus. Considering the long-term clinical implications (...) of these mutations, posterior cortical cataracts, bilateral posterior lenticonus, and porencephaly should raise clinical suspicion for COL4A1 mutations.Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

2019 JAAPOS - Journal of the American Association for Pediatric Ophthalmology and Strabismus

8. Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management. (PubMed)

Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management. We report a case exhibiting the coexistence of anterior and posterior segment pathology in the same eye secondary to a congenital disorder of glycosylation resulting from a DPAGT1 gene mutation. This case details a novel gene mutation in a male infant found to have bilateral congenital cataracts, removed at 6 and 7 weeks of life (...) , only to uncover bilateral retinal and optic atrophy. Our report highlights issues of surgical timing for syndrome-related pediatric cataracts, given the risks related to secondary glaucoma versus deprivation amblyopia, in an infant born with both cataracts and vision-limiting posterior segment pathology.Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

2019 JAAPOS - Journal of the American Association for Pediatric Ophthalmology and Strabismus

9. The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts. (PubMed)

The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts. Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in the beta-crystalline gene CRYBA1 has been reported in several different Chinese, Caucasian and Iranian families of congenital cataracts. Further functional studies (...) are needed to confirm the variant pathogenicity.The purpose of this study is to identify the genetic causes that contribute to congenital cataracts with esotropia and nystagmus in a Chinese family. Whole-exome sequencing was performed on samples from all five family members. The two brothers of the father and their daughters were then enrolled in the study, and 40 suspected variants were sequenced among the 9 subjects using Sanger sequencing. The mRNA and protein levels of CRYBA1 in the lens epithelium

2019 BMC Medical Genetics

10. Dominant ER Stress-Inducing <i>WFS1</i> Mutations Underlie a Genetic Syndrome of Neonatal/Infancy Onset Diabetes, Congenital Sensorineural Deafness and Congenital Cataracts. (PubMed)

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy Onset Diabetes, Congenital Sensorineural Deafness and Congenital Cataracts. Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have novel genetic syndromes. We performed exome sequencing in a patient and his unrelated, unaffected (...) parents to identify the genetic etiology of a syndrome characterized by neonatal diabetes, sensorineural deafness, and congenital cataracts. Further testing was performed in 311 patients with diabetes diagnosed before 1 year of age in whom all known genetic causes had been excluded. We identified 5 patients, including the initial case, with three heterozygous missense mutations in WFS1 (4/5 confirmed de novo). They had diabetes diagnosed before 12 months (2 before 6 months) (5/5), sensorineural

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2017 Diabetes

11. Relative effectiveness assessment of Femtosecond laser-assisted cataract surgery (FLACS) compared to standard ultrasound phacoemulsification cataract surgery

- wide was due to cataract (8), affecting more than 52 million people in 2015. (9) The pattern and rate of blinding disorders is different in developed and developing nations, depending upon differ- ent causes. While cataracts can be congenital or due to trauma or metabolic conditions, age- related cataracts are the most common and therefore have the greatest impact. (10) [A0006] In Europe in 2010, the estimated prevalence of blindness (Visual Acuity Blind 18 years) of either sex affected (...) Relative effectiveness assessment of Femtosecond laser-assisted cataract surgery (FLACS) compared to standard ultrasound phacoemulsification cataract surgery Dec2015 © EUnetHTA, 2015. Reproduction is authorised provided EUnetHTA is explicitly acknowledged 1 EUnetHTA Joint Action 3 WP4 Version 1.4 October 2018 Rapid assessment of other technologies using the HTA Core Model ® for Rapid Relative Effectiveness Assessment FEMTOSECOND LASER-ASSISTED CATARACT SURGERY (FLACS) FOR THE TREATMENT OF AGE

2018 EUnetHTA

12. Correction: Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. (PubMed)

Correction: Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. [This corrects the article DOI: 10.1371/journal.pone.0169226.].

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2017 PLoS ONE

13. Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. (PubMed)

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. [This corrects the article DOI: 10.1371/journal.pone.0167562.].

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2017 PLoS ONE

14. Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. (PubMed)

Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common (...) complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family. Based on family WES data, we identified a novel BRD4 missense mutation as a candidate causal variant and performed cell-based experiments by ablation

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2017 PLoS ONE

15. Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. (PubMed)

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. [This corrects the article DOI: 10.1371/journal.pone.0137973.].

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2017 PLoS ONE

16. Congenital Cataract in Gpr161vl/vl Mice Is Modified by Proximal Chromosome 15. (PubMed)

Congenital Cataract in Gpr161vl/vl Mice Is Modified by Proximal Chromosome 15. The morphology and severity of human congenital cataract varies even among individuals with the same mutation, suggesting that genetic background modifies phenotypic penetrance. The spontaneous mouse mutant, vacuolated lens (vl), arose on the C3H/HeSnJ background. The mutation disrupts secondary lens fiber development by E16.5, leading to full penetrance of congenital cataract. The vl locus was mapped to a frameshift (...) deletion in the orphan G protein-coupled receptor, Gpr161, which is expressed in differentiating lens fiber cells. When Gpr161vl/vl C3H mice are crossed to MOLF/EiJ mice an unexpected rescue of cataract is observed, suggesting that MOLF modifiers affect cataract penetrance. Subsequent QTL analysis mapped three modifiers (Modvl3-5: Modifier of vl) and in this study we characterized Modvl4 (Chr15; LOD = 4.4). A Modvl4MOLF congenic was generated and is sufficient to rescue congenital cataract and the lens

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2017 PLoS ONE

17. Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts (PubMed)

Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts At present, congenital cataract is the world's leading cause of blindness among children. The aim of the present study was to determine and analyze the genetic disorder associated with a congenital nuclear cataract in a three-generation family of Guangxi Zhuang ethnicity. A total of 3 affected individuals and 5 unaffected family members underwent (...) ) gene. Therefore, the arginine of the highly conserved codon 33 was changed to cysteine. This mutation was identified in the affected family members, but not identified in unaffected family members or the 100 normal controls. The mutation in the MIP gene is the genetic cause of the congenital cataract in the ethnic Guangxi Zhuang family.

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2018 Experimental and therapeutic medicine

18. Mutation profiles of congenital cataract genes in 21 northern Chinese families (PubMed)

Mutation profiles of congenital cataract genes in 21 northern Chinese families To identify disease-causing gene mutations in 21 northern Chinese families with congenital cataracts.Medical record collection and ophthalmologic examinations were conducted for 21 families with congenital cataracts. A volume of 5 ml of peripheral blood was drawn from each participant for genomic DNA isolation. Thirty-four known candidate genes for congenital cataracts were analyzed in the probands of 21 families (...) carried the p.V44M mutation in the GJA8 gene. Haplotype analysis revealed a chromosome region of 475 kb containing the mutation in the GJA8 gene was harbored by two families.Compared with traditional Sanger sequencing, targeted NGS for genetic testing of congenital cataracts markedly increases the mutation detection rate and is cost-effective. The p.V44M mutation in the GJA8 gene was the most common mutation and was due to a founder effect within the Chinese cohort studied. The results of this study

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2018 Molecular vision

19. Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. (PubMed)

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle (...) childhood-onset neuromyopathy with congenital cataracts and glaucoma, expands the clinical spectrum of POLG-related disorders. It also confirms the association between cataracts and neuropathy with variants in POLG. Early onset cataract is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of distal myopathy or neuromyopathy.

2018 European Journal of Human Genetics

20. Timing and approaches in congenital cataract surgery: a randomised controlled trial. (PubMed)

Timing and approaches in congenital cataract surgery: a randomised controlled trial.

2016 Lancet

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