Simultaneous vs sequential bilateral cataract surgery for infants with congenital cataracts: Visual outcomes, adverse events, and economic costs.

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Dave, Hreem; Phoenix, Vidya; Becker, Edmund R; Lambert, Scott R

2010-08-01

To compare the incidence of adverse events and visual outcomes and to compare the economic costs of sequential vs simultaneous bilateral cataract surgery for infants with congenital cataracts. Retrospective review of simultaneous vs sequential bilateral cataract surgery for infants with congenital cataracts who underwent cataract surgery when 6 months or younger at our institution. Records were available for 10 children who underwent sequential surgery at a mean age of 49 days for the first eye and 17 children who underwent simultaneous surgery at a mean age of 68 days (P = .25). We found a similar incidence of adverse events between the 2 treatment groups. Intraoperative or postoperative complications occurred in 14 eyes. The most common postoperative complication was glaucoma. No eyes developed endophthalmitis. The mean (SD) absolute interocular difference in logMAR visual acuities between the 2 treatment groups was 0.47 (0.76) for the sequential group and 0.44 (0.40) for the simultaneous group (P = .92). Payments for the hospital, drugs, supplies, and professional services were on average 21.9% lower per patient in the simultaneous group. Simultaneous bilateral cataract surgery for infants with congenital cataracts is associated with a 21.9% reduction in medical payments and no discernible difference in the incidence of adverse events or visual outcomes. However, our small sample size limits our ability to make meaningful comparisons of the relative risks and visual benefits of the 2 procedures.

The Indication of Surgical Treatment and Visual Rehabilitation in the Congenital Cataracts

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Uğur Keklikçi

2005-01-01

Full Text Available Congenital cataracts constitute an important part of blindness in childhood. It’s a curable disease which is one of the most common causes of blindness in childhood. Main treatment is surgical operation. Timing of surgery, appropriate and rapid post sur- gery visual rehabilitation have a major effect on prognosis. Surgery should be perfor-med as soon as possible after the diagnosis in order to prevent amblyopia.Visual rehabi- litation of congenital cataract includes optical correction and amblyopia treatment. The most effective treatment of amblyopia is occlusion therapy. In this article congenital cataracts were evaluated in the light of recent literature and the importance of the timing of surgery and visual rehabilitation were attempted to be emphasized.

Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation

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Caroline Lenfant

2017-11-01

Full Text Available Monogenic forms of diabetes may account for 1–5% of all cases of diabetes, and may occur in the context of syndromic presentations. We investigated the case of a girl affected by insulin-dependent diabetes, diagnosed at 6 years old, associated with congenital cataract. Her consanguineous parents and her four other siblings did not have diabetes or cataract, suggesting a recessive syndrome. Using whole exome sequencing of the affected proband, we identified a heterozygous p.R825Q ABCC8 mutation, located at the exact same amino-acid position as the p.R825W recurring diabetes mutation, hence likely responsible for the diabetes condition, and a homozygous p.G71S mutation in CRYBB1, a gene known to be responsible for congenital cataract. Both mutations were predicted to be damaging and were absent or extremely rare in public databases. Unexpectedly, we found that the mother was also homozygous for the CRYBB1 mutation, and both the mother and one unaffected sibling were heterozygous for the ABCC8 mutation, suggesting incomplete penetrance of both mutations. Incomplete penetrance of ABCC8 mutations is well documented, but this is the first report of an incomplete penetrance of a CRYBB1 mutation, manifesting between susceptible subjects (unaffected mother vs. affected child and to some extent within the patient herself, who had distinct cataract severities in both eyes. Our finding illustrates the importance of family studies to unmask the role of confounding factors such as double-gene mutations and incomplete penetrance that may mimic monogenic syndromes including in the case of strongly evocative family structure with consanguinity.

The Gender Issue in Congenital and Developmental Cataract Surgery

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Marzieh Katibeh

2013-01-01

Full Text Available Purpose: To describe the demographic pattern of congenital cataract surgery at a referral ophthalmology center in Iran and to evaluate any possible difference between the genders. Methods: Subjects aged 15 years or less scheduled for cataract surgery were enrolled in this cross-sectional study. Data was retrieved from the electronic medical records according to the ICD-10 coding system. Age and proportion of operations by sex were the main parameters of interest. We employed analysis of covariance to compare age at surgery and logistic regression to obtain the trend for the number of cataract procedures in boys and girls. Results: Overall, 314 congenital cataract procedures were performed during the study period, 55 (17.5% of which were related to second eye surgery. Operated eyes belonged to male subjects in 172 (54.8% cases and female subjects in 142 (45.2% cases. Mean age at operation for both first and second eyes was 3.2±3.0 years overall, and 3.1±2.9 versus 3.4±3.0 years in girls and boys, respectively (P= 0.62. Surgery was performed before one year of age in 33.2% and before 5 years in 75% of cases. Among patients undergoing second eye surgery, girls presented significantly later than boys (at 4.2±3.3 vs. 2.6±1.7 years, P= 0.012. Conclusion: The rate of congenital/infantile cataract surgery in boys was almost 10% higher than girls. We observed a significant difference only regarding age at second eye surgery which comprised 17.5% of all operations. One third and two thirds of the procedures were performed under the age of one and five years, respectively.

Brain imaging findings of patients with congenital cataracts, facial dysmorphism neuropathy syndrome

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Zlatareva, D.; Penev, L.; Hadjidekov, V.; Chamova, T.; Guergeltcheva, V.; Tournev, I.; Tournev, I.; Bojinova, V.; Kaprelian, A.; Tzoneva, D.

2012-01-01

Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system.The aim of this study is to analyze CNS magnetic resonance imaging findings of patients with CCFDN syndrome and to apply severity score system. MRI of 20 patients (10 children - 4 girls and 6 boys and 10 adults - 6 women and 4 men with CCFDN was performed on 1,5T unit. We apply severity score system (previously used for metachromatic leukodystrophy) to evaluate patients with CCFDN which was adapted to the changes observed in CCFDN patients. This score system assessed WM involvement, as well as the presence of cerebral and cerebellar atrophy. We have found pathologic findings in 19 patients (95%). White matter hyperintensities were found in 18 and cerebral atrophy in 18 patients. The severity score have varied from 0 to 18 points. In contrast to previous studies we have found higher frequency of white matter hyperintensities. The findings are more prominent with patients' age. The most common MRI findings are cerebral atrophy and periventricular hyperintensities. This study gives the first detailed description of MRI findings in CCFDN syndrome patients where severity score system was applied. The score system could be applied in follow-up studies to evaluate progression of CNS findings. (authors)

Advances in visual correction and postoperative visual treatment of congenital cataract

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Lin Mei

2014-04-01

Full Text Available Congenital cataract is one of the important diseases that cause irreversible visual impairment on children. Compared with adult cataract, the surgery of congenital cataract is more complicated and the complications are more severer, especially the postoperative amblyopia often leads to bad prognosis. Therefore, the postoperative treatment is necessary to obtain the better visual outcome. The traditional visual correction methods after surgery include the combined use of spectacles, contact lens, and intraocular lens(IOL, but some problems such as IOL power calculation and IOL implantation time are still controversial. Besides, occlusion therapy and visual training are also essential for preventing amblyopia after cataract surgery. Occlusion in an appropriate dose and course must be mastered, accompanied by visual training. Both of the operative eyes and normal eyes will be able to achieve much better visual acuity and color sensitivity, so that the binocular vision can recover and develop as normal function.

Prognostic importance of congenital cataract morphology: A case report

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Çağrı İlhan

2018-02-01

Full Text Available Congenital cataract (CC has an important place in pediatric ocular diseases. CCs are different from senile nuclear cataracts in terms of their etiologic, clinic and morphological characteristics. CCs occur many different forms such as non-hereditary isolated cases or autosomal dominant bilateral cases. In addition, many of ocular and systemic diseases can be associated with CC and ophthalmologist should be aware of these potential risks. In this article, we questioned whether the different morphological features of CC have prognostic importance or effect decision of surgery by considering a case of CC.

Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

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Fayol, Laurence; Garcia, Patricia; Denis, Danièle; Philip, Nicole; Simeoni, Umberto

2006-04-01

A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS.

A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

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Zhuang, Xiaotong; Wang, Lianqing; Song, Zixun; Xiao, Wei

2015-01-01

To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells. The expression pattern, protein solubility and subcellular distribution were analyzed by western blotting and immunofluorescence. A novel insertion variant, c.451_452insGACT, in CRYGD was identified in the patients. It causes a frameshift and a premature termination of the polypeptide to become Y151*. A significantly reduced solubility was observed for this mutant. Unlike wildtype CRYGD, which existed mainly in the cytoplasm, Y151* was mis-located in the nucleus. We have identified a novel mutation, c.451_452insGACT, in CRYGD, which is associated with nuclear cataract. This is the first insertion mutation of CRYGD found to cause autosomal dominant congenital cataract. The mutant protein, with loss of solubility and localization to the nucleus, is hypothesized to be the major cause of cataract in these patients.

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

DEFF Research Database (Denmark)

Hansen, Lars; Yao, Wenliang; Eiberg, Hans

2006-01-01

"Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We r...

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

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Wang, Kai Jie; Li, Sha Sha; Yun, Bo; Ma, Wen Xian; Jiang, Tian Ge; Zhu, Si Quan

2011-01-08

To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis. All affected individuals in this family showed nuclear cataracts. Sequencing of the candidate genes revealed a heterozygous c.559C>T change in the coding region of the major intrinsic protein (MIP), which caused a substitution of highly conserved arginine by cysteine at codon 187 (p.R187C). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or 110 ethnically matched controls. Bioinformatics analysis showed that the mutation was predicted to affect the function and secondary structure of MIP protein. This study identified a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family, expanding the mutation spectrum of MIP causing congenital cataract.

Cataract surgery in Knobloch syndrome: a case report

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Bongiovanni CS

2011-06-01

Full Text Available Carmen Sílvia Bongiovanni1, Carla Cristina Serra Ferreira1, Ana Paula Silvério Rodrigues1, João Borges Fortes Filho2, Márcia Beatriz Tartarella11Department of Ophthalmology, Congenital Cataract Section, Medical School, Federal University of São Paulo, São Paulo; 2Department of Ophthalmology, Medical School, Federal University of Rio Grande do Sul, Porto Alegre, BrazilAbstract: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.Keywords: Knobloch syndrome, cataract, phacoemulsification, vitreous, right eye, left eye, genetic

VISUAL OUTCOME IN CONGENITAL RUBELLA CATARACT MANAGED IN A TERTIARY EYE CARE CENTRE

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Chitra S

2016-12-01

Full Text Available BACKGROUND The aim of the study is to analyse the visual outcome in congenital rubella cataract. MATERIALS AND METHODS It is an analytical prospective study. RESULTS Defective vision and white reflex were the most common presenting complaint. Most of the patients were positive for IgG only in high titres. Comparing the visual acuity preoperatively and postoperatively, there was statistically significant improvement in vision. CONCLUSION Children with congenital rubella cataract should be operated as early as possible under topical antibiotics coverage. Postoperative should be properly treated with intensive cycloplegics and topical steroids. Proper follow up and visual rehabilitation should be done.

Relative efficiency of polymerase chain reaction and enzyme-linked immunosorbant assay in determination of viral etiology in congenital cataract in infants

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Shyamala G

2008-01-01

Full Text Available Background: Perinatal viral infections of fetus are among the leading causes of congenital cataract and identifying the viral etiology is important. Objectives: To detect the presence of Rubella virus (RV, herpes simplex virus (HSV and cytomegalovirus (CMV in lens aspirate specimens obtained from patients with congenital cataract and relate the results with serology. Setting and Design: Prospective study carried out in tertiary care hospital. Materials and Methods: Fifty lens aspirates from 50 infants with congenital cataract were subjected to HSV, RV isolation and polymerase chain reaction (PCR for detection of HSV and CMV. Reverse transcription polymerase chain reaction (RT-PCR was applied for RV detection. Peripheral blood specimens were screened for anti-HSV, RV and CMV antibodies by enzyme-linked immunosorbant assay (ELISA. Results: Rubella virus was detected in nine (18% lens aspirates, by nRT-PCR which includes six positive by culture. HSV-2 DNA was detected in nine other lens aspirates, while CMV was not detected by PCR. Serological results did not correlate with the presence of viruses in the lens aspirates. This is the first report of detection of HSV-2 DNA in cases of congenital cataract. Conclusions: Cytomegalovirus may not be playing a significant role in causation of congenital cataract. The role of serology in identifying causative viral infection for congenital cataract needs to be re-evaluated.

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract

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Li Wang

2016-01-01

Full Text Available Context: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. Aims: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. Subjects and Methods: After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three-generation Chinese family with three affected. All exons of candidate genes were amplified by polymerase chain reaction and were sequenced performed by bidirectional sequencing. Results: By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T was detected in gap junction protein alpha 3 genes (GJA3, which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L. The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. Conclusions: The study identified a missense mutation (c. 176C>T in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.

Novel human CRYGD rare variant in a Brazilian family with congenital cataract

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Giordano, Gabriel Gorgone; Tavares, Anderson; da Silva, Márcio José; de Vasconcellos, José Paulo Cabral; Arieta, Carlos Eduardo Leite; de Melo, Mônica Barbosa

2011-01-01

Purpose To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. Methods A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and intron/exon boundaries of the αA-crystallin (CRYAA), γC-crystallin (CRYGC), and CRYGD genes were amplified by polymerase chain reaction and directly sequenced. Results Sequencing of the coding regions of CRYGD showed the presence of a heterozygous A→G transversion at c.401 position, which results in the substitution of a tyrosine to a cysteine (Y134C). The polymorphism was identified in three individuals, two affected and one unaffected. Conclusions A novel rare variant in CRYGD (Y134C) was detected in a Brazilian family with congenital cataract. Because there is no segregation between the substitution and the phenotypes in this family, other genetic alterations are likely to be present. PMID:21866214

Analysis of eye lens-specific genes in congenital hereditary cataracts and microphthalmia of the miniature schnauzer dog.

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Zhang, R L; Samuelson, D A; Zhang, Z G; Reddy, V N; Shastry, B S

1991-08-01

The congenital hereditary cataracts and microphthalmia in the miniature schnauzer dog are inherited by an autosomal recessive mode. To understand the genetic basis of these diseases, the authors purified and analyzed leukocyte deoxyribonucleic acid (DNA) from affected and normal animals using a candidate gene approach. Because the genes that encode the lens-specific proteins, specifically, alpha, beta, and gamma crystallins and the membrane protein (MP26), are known to maintain the structure and function of the lens, the authors used complimentary DNA (cDNA) fragments that corresponded to the above genes to search for the mutations at their loci in the affected animals. They found no evidence of the gene deletion and rearrangement in any of the five loci. In addition, the hybridizable sequences of the dog DNA to the specific probes for the human chromosome 4 and 18 loci, which are reported to be involved in the abnormality of the human eye, seem to be unaffected. These data support the notion that the hereditary cataracts and microphthalmia in the dog may be associated with genes other than those reported for several animal systems.

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

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Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki

2014-05-01

Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile-onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA-binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions. © 2014 Wiley Periodicals, Inc.

Ant-egg cataract. A study of a family with dominantly inherited congenital (ant-egg) cataract, including a histological examination of the formed elements

DEFF Research Database (Denmark)

Nissen, Steffen; Schrøder, H D

1979-01-01

A family with "ant-egg" cataract in three generations is described. The cataract is congenital, probably of autosomal dominant inheritance. Light microscopy of the ant-eggs showed that they are made up of a peripheral zone of lens material and a large almost homogenous centre. Element analysis by......-ray spectrophotometry showed a high content of calcium and phosphorus in the centre. The cataract has been easy to operate on and the postoperative visual results have been good....

Primary versus secondary intraocular lens implantation in the management of congenital cataract

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Thanaa H Mohamed

2016-01-01

Conclusion Primary IOL implantation was found to be safe and effective in the management of congenital cataract; it leads to lower incidence of complications and better visual outcomes compared with aphakia and secondary IOL implantation.

Temporary Piggyback Intraocular Lens Implantation Versus Single Intraocular Lens Implantation in Congenital Cataracts: Long-Term Clinical Outcomes.

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Hwang, Sungsoon; Lim, Dong Hui; Lee, Soomin; Choi, Daye Diana; Chung, Eui-Sang; Chung, Tae-Young

2018-04-01

To report the long-term results of temporary piggyback IOL implantation in congenital cataract and to compare the clinical outcomes of temporary piggyback IOL with those of single IOL implantation. This is a retrospective, comparative, interventional study. The medical records of all consecutive patients who underwent cataract extraction and single or temporary piggyback IOL implantation within the first 3 years of life from 1999 to 2013 at Samsung Medical Center were reviewed. Twenty-eight eyes from 18 patients underwent single IOL implantation (monopseudophakia group), and 32 eyes of 20 patients underwent temporary piggyback IOL implantation in congenital cataract surgery (polypseudophakia group). The mean age at initial cataract surgery was 15.8 months in the monopseudophakia group and 11.1 months in the polypseudophakia group (P = 0.144). The average follow-up duration was 133 months in the monopseudophakia group and 120 months in the polypseudophakia group (P = 0.391). The best-corrected visual acuity at the last visit was 0.36 logMAR in the monopseudophakia group and 0.55 logMAR in the polypseudophakia group (P = 0.044). Four (14%) and 14 (44%) reoperations for complications within the anterior segment were performed in the monopseudophakia group and polypseudophakia group, respectively (P = 0.042). Four cases (14.3%) in the monopseudophakia group and 13 cases (40.6%) in the polypseudophakia group had a glaucoma-related adverse event (P = 0.086). Compared with primary single IOL implantation in congenital cataract, temporary piggyback IOL implantation produced worse visual acuity, higher reoperation rate, and higher risk of secondary glaucoma. Temporary piggyback IOL implantation does not have benefit in congenital cataract.

Monocular oral reading after treatment of dense congenital unilateral cataract

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Birch, Eileen E.; Cheng, Christina; Christina, V; Stager, David R.

2010-01-01

Background Good long-term visual acuity outcomes for children with dense congenital unilateral cataracts have been reported following early surgery and good compliance with postoperative amblyopia therapy. However, treated eyes rarely achieve normal visual acuity and there has been no formal evaluation of the utility of the treated eye for reading. Methods Eighteen children previously treated for dense congenital unilateral cataract were tested monocularly with the Gray Oral Reading Test, 4th edition (GORT-4) at 7 to 13 years of age using two passages for each eye, one at grade level and one at +1 above grade level. In addition, right eyes of 55 normal children age 7 to 13 served as a control group. The GORT-4 assesses reading rate, accuracy, fluency, and comprehension. Results Visual acuity of treated eyes ranged from 0.1 to 2.0 logMAR and of fellow eyes from −0.1 to 0.2 logMAR. Treated eyes scored significantly lower than fellow and normal control eyes on all scales at grade level and at +1 above grade level. Monocular reading rate, accuracy, fluency, and comprehension were correlated with visual acuity of treated eyes (rs = −0.575 to −0.875, p < 0.005). Treated eyes with 0.1-0.3 logMAR visual acuity did not differ from fellow or normal control eyes in rate, accuracy, fluency, or comprehension when reading at grade level or at +1 above grade level. Fellow eyes did not differ from normal controls on any reading scale. Conclusions Excellent visual acuity outcomes following treatment of dense congenital unilateral cataracts are associated with normal reading ability of the treated eye in school-age children. PMID:20603057

Genetics Home Reference: autosomal recessive congenital stationary night blindness

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... collapse boxes. Description Autosomal recessive congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

Rodent models of congenital and hereditary cataract in man.

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Tripathi, B J; Tripathi, R C; Borisuth, N S; Dhaliwal, R; Dhaliwal, D

1991-01-01

Because the organogenesis and physiology of the lens are essentially similar in various mammals, an understanding of the etiology and pathogenesis of the formation of cataract in an animal model will enhance our knowledge of cataractogenesis in man. In this review, we summarize the background, etiology, and pathogenesis of cataracts that occur in rodents. The main advantages of using rodent mutants include the well-researched genetics of the animals and the comparative ease of breeding of large litters. Numerous rodent models of congenital and hereditary cataracts have been studied extensively. In mice, the models include the Cts strain, Fraser mouse, lens opacity gene (Lop) strain, Lop-2 and Lop-3 strains, Philly mouse, Nakano mouse, Nop strain, Deer mouse, Emory mouse, Swiss Webster strain, Balb/c-nct/nct mouse, and SAM-R/3 strain. The rat models include BUdR, ICR, Sprague-Dawley, and Wistar rats, the spontaneously hypertensive rat (SHR), the John Rapp inbred strain of Dahl salt-sensitive rat, as well as WBN/Kob, Royal College of Surgeons (RCS), and Brown-Norway rats. Other proposed models for the study of hereditary cataract include the degu and the guinea pig. Because of the ease of making clinical observations in vivo and the subsequent availability of the intact lens for laboratory analyses at different stages of cataract formation, these animals provide excellent models for clinicopathologic correlations, for monitoring of the natural history of the aging process and of metabolic defects, as well as for investigations on the effect of cataract-modulating agents and drugs, including the prospect of gene therapy.

Adrenomyeloneuropathy associated with congenital cataract. Report of a family with MRI study

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Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

1988-05-01

Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq.

Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

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Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

2007-07-01

To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC, is a neuronal protein.

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Elisabetta Gazzerro

Full Text Available "Hypomyelination and Congenital Cataract", HCC (MIM #610532, is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification of the cell types expressing a protein of unknown function can contribute to define the physiological context in which the molecule is explicating its function, we analyzed the pattern of Hyccin expression in the central and peripheral nervous system (CNS and PNS. Using heterozygous mice expressing the b-galactosidase (LacZ gene under control of the Hyccin gene regulatory elements, we show that the gene is primarily expressed in neuronal cells. Indeed, Hyccin-LacZ signal was identified in CA1 hippocampal pyramidal neurons, olfactory bulb, and cortical pyramidal neurons, while it did not colocalize with oligodendroglial or astrocytic markers. In the PNS, Hyccin was detectable only in axons isolated from newborn mice. In the brain, Hyccin transcript levels were higher in early postnatal development (postnatal days 2 and 10 and then declined in adult mice. In a model of active myelinogenesis, organotypic cultures of rat Schwann cells (SC/Dorsal Root Ganglion (DRG sensory neurons, Hyccin was detected along the neurites, while it was absent from SC. Intriguingly, the abundance of the molecule was upregulated at postnatal days 10 and 15, in the initial steps of myelinogenesis and then declined at 30 days when the process is complete. As Hyccin is primarily expressed in neurons and its mutation leads to hypomyelination in human patients, we suggest that the protein is involved in neuron-to-glia signalling to initiate or maintain myelination.

Effect of low molecular weight heparin (enoxaparin) on congenital cataract surgery.

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Caça, Ihsan; Sahin, Alparslan; Cingü, Abdullah Kürsat; Ari, Seyhmus; Alakuş, Fuat; Cinar, Yasin

2012-01-01

To assess the efficacy of intracameral enoxaparin (a low-molecular-weight heparin) infusion, in variable doses on postoperative inflammatory response in congenital cataract surgery. It is a prospective, randomized controlled trial. Eighty eyes of 53 children with congenital cataract were enrolled in this study. Every eye had primary posterior capsulorrhexis and intraocular lens (IOL) implantation after lens aspiration. The eyes were divided into 4 equal groups. In group 1 balanced salt solution (BSS) without enoxaparin was used as an irrigation solution. Whereas in group 2, 3 and 4, 40mg, 20mg and 10mg enoxaparin in 500mL BSS was used respectively. The inflammatory response in the anterior chamber was compared among the groups with slit-lamp biomicroscopy. The mean follow-up period was (17.75±3.95) months in group 1, (18.00±5.15) months in group 2, (19.20±5.47) months in group 3 and (18.65±5.16) months in group 4. Mean number of inflammatory cells in the anterior chamber in group 1 was significantly higher than that of group 2, 3, 4 (P0.05). There were IOL precipitates in 4 eyes of group 1 and 2 eyes of group 4. IOL precipitate formation was significantly higher in group 1 than that of group 2 and 3 in which there was no IOL precipitate (P=0.048). There was IOL subluxation in only one eye of group 1, 3 and 4 while no subluxation was observed in group 2 (P>0.05). There was no statistically significant difference detected about IOL subluxation occurance in all 4 groups (P>0.05). Complications of cataract surgery in congenital cataract patients associated with postoperative inflammatory response found to be decreased with the use of enoxaparin in intraocular infusion solutions. Furthermore according to our results the anti-inflammatory effect of enoxaparin was dose dependant.

Anoftalmia associada à catarata congênita: relato de caso Anophthalmia and congenital cataract: case report

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Alessandro Santana

2005-06-01

Full Text Available Apresentação de um caso de anoftalmia e catarata congênita associada a malformações sistêmicas. Paciente, 6 meses, do sexo masculino, com anoftalmia à esquerda e catarata congênita polar posterior à direita. Instituiu-se terapêutica cirúrgica por meio de aspiração do núcleo e córtex com pequena incisão sem implante de lente intra-ocular, e capsulorrexe posterior com vitrectomia. A associação entre anoftalmia e catarata congênita é condição rara em que o diagnóstico e tratamento precoces são fundamentais para adequada reabilitação do paciente.The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The association of anophthalmia and congenital cataract is rare. The early diagnosis and management in these cases is very important for the best visual rehabilitation.

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

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Zhai, Yi; Li, Jinyu; Zhu, Yanan; Xia, Yan; Wang, Wei; Yu, Yinhui; Yao, Ke

2014-01-01

The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts. Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the candidate genes by bi-directional sequencing of the amplified products. The congenital cataract phenotype of the pedigree was identified by slit-lamp examinations and observation during surgery as nuclear and posterior polar cataracts. Through the sequencing of the candidate genes, a heterozygous c. 418C>T change was detected in the coding region of the γD-crystallin gene (CRYGD). As a result of this change, a highly conserved arginine residue was replaced by a stop codon (p. R140X). This change was discovered among all of the affected individuals with cataracts, but not among the unaffected family members or the 100 ethnically matched controls. This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.

Childhood cataract: home to hospital.

OpenAIRE

Muhit, MA

2004-01-01

Globally, there are 190,000 children who are blind from cataract.1 Cataract in children may be present at birth (congenital cataract) or may appear anytime during the first few years of life (developmental cataract). Childhood cataract is the most common treatable cause of childhood blindness, being responsible for 10-30% of all childhood blindness. A recent national study in Bangladesh showed that 1 in every 3 blind children is unnecessarily blind from congenital/developmental cataract.

A novel GJA8 mutation (p.V44A causing autosomal dominant congenital cataract.

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Yanan Zhu

Full Text Available To examine the mechanism by which a novel connexin 50 (Cx50 mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The Cx50 gene was cloned from a human lens cDNA library. Connexin protein distributions were assessed by fluorescence microscopy. Hemichannel functions were analyzed by dye uptake assay. Formation of functional channels was assessed by dye transfer experiments.Direct sequencing of the candidate GJA8 gene revealed a novel c.131T>C transition in exon 2, which cosegregated with the disease in the family and resulted in the substitution of a valine residue with alanine at codon 44 (p. V44A in the extracellular loop 1 of the Cx50 protein. Both Cx50 and Cx50V44A formed functional gap junctions, as shown by the neurobiotin transfer assay. However, unlike wild-type Cx50, Cx50V44A was unable to form open hemichannels in dye uptake experiments.This work identified a unique congenital cataract in the Chinese population, caused by the novel mutation Cx50V44A, and it showed that the V44A mutation specifically impairs the gating of the hemichannels but not the gap junction channels. The dysfunctional hemichannels resulted in the development of human congenital cataracts.

Cataract Surgery with Foldable Single Piece IOLs in Congenital Cataract-Microcornea Syndrome

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Niphon Chirapapaisan, M.D.

2017-11-01

Full Text Available Objective: To present the visual outcomes and intraocular lens (IOLs stability after cataract surgery with foldable single piece IOLs in a patient with congenital cataract-microcornea syndrome (CCMC. Case presentation: A 28-year-old woman presented with bilateral microcornea and posterior polar cataract. Her uncorrected (UDVA and corrected (CDVA distance visual acuities were 20/100, 20/160 and 20/80, 20/80, respectively. The horizontal cornea diameter was 9.0 mm in both eyes. Anterior chamber angle assessment (ACAA with Scheie classification showed grade 3 on the superior, inferior, and temporal site and grade 2 on the nasal site in both eyes. On ultrasound biomicroscopy (UBM, the anterior chamber depths were 2.35 mm. OD and 2.41 mm. OS. The axial lengths were 23.28 mm., OD and 22.50 mm. OS with the A-scan ultrasound biometry. The IOLs power calculation with SRK/T formulas was +25.00 diopter OD and +22.50 diopter OS (A-constant 118.4. Phacoemulsification was performed on both eyes. After lens aspiration, ruptured posterior capsule, a common complication occurred. Then anterior vitrectomy was performed. A foldable single piece IOLs without haptic trimming was implanted in the sulcus in each eye. CDVA was 20/63 equally in both eyes. The intraocular pressure was 12 and 14 mmHg. ACAA showed grade 2 and no pigment dispersion. The IOLs had no tilt or decentration. UBM showed the IOLs were in the proper position and were not rubbing the iris. Conclusion: The foldable single piece IOLs without haptic trimming in the sulcus were safely implanted in both eyes with microcornea in CCMC.

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

DEFF Research Database (Denmark)

Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

2009-01-01

, and a gene conversion is the most likely mutational event causing this variant. Ten families had microcornea cataract, and a mutation was identified in eight of those. Most families displayed mixed phenotypes with nuclear, lamellar, and polar opacities and no apparent genotype-phenotype correlation emerged......PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presented...... together with an overview of the results in all families. METHODS: A combined screening approach of linkage analysis and sequencing of 17 cataract genes were applied to mutation analyses of total 28 families. RESULTS: The study revealed a disease locus in seven of eight families that were amenable...

Long term outcomes of bilateral congenital and developmental cataracts operated in Maharashtra, India. Miraj pediatric cataract study III

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Parikshit M Gogate

2014-01-01

Full Text Available Aim : To study long term outcome of bilateral congenital and developmental cataract surgery. Subjects: 258 pediatric cataract operated eyes of 129 children. Materials and Methods: Children who underwent pediatric cataract surgery in 2004-8 were traced and examined prospectively in 2010-11. Demographic and clinical factors were noted from retrospective chart readings. All children underwent visual acuity estimation and comprehensive ocular examination in a standardized manner. L. V. Prasad Child Vision Function scores (LVP-CVF were noted for before and after surgery. Statistics: Statistical analysis was done with SPSS version 16 including multi-variate analysis. Results: Children aged 9.1 years (std dev 4.6, range 7 weeks-15 years at the time of surgery. 74/129 (57.4% were boys. The average duration of follow-up was 4.4 years (stddev 1.6, range 3-8 years. 177 (68.6% eyes had vision 6/18 and 157 (60.9% had BCVA >6/60 3-8 years after surgery. 48 (37.2% had binocular stereoacuity <480 sec of arc by TNO test. Visual outcome depended on type of cataract (P = 0.004, type of cataract surgery (P < 0.001, type of intra-ocular lens (P = 0.05, age at surgery (P = 0.004, absence of post-operative uveitis (P = 0.01 and pre-operative vision (P < 0.001, but did not depend on delay (0.612 between diagnosis and surgery. There was a statistically significant improvement for all the 20 questions of the LVP-CVF scale (P < 0.001. Conclusion : Pediatric cataract surgery improved the children′s visual acuity, stereo acuity and vision function. Developmental cataract, use of phacoemulsification, older children and those with better pre-operative vision had betterlong-termoutcomes.

Timing and approaches in congenital cataract surgery: a four-year, two-layer randomized controlled trial

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Jin-Chao Liu

2017-12-01

Full Text Available "AIM: To compare visual prognoses and postoperative adverse events of congenital cataract surgery performed at different times and using different surgical approaches. METHODS: In this prospective, randomized controlled trial, we recruited congenital cataract patients aged 3mo or younger before cataract surgery. Sixty-one eligible patients were randomly assigned to two groups according to surgical timing: a 3-month-old group and a 6-month-old group. Each eye underwent one of three randomly assigned surgical procedures, as follows: surgery A, lens aspiration (I/A; surgery B, lens aspiration with posterior continuous curvilinear capsulorhexis (I/A+PCCC; and surgery C, lens aspiration with posterior continuous curvilinear capsulorhexis and anterior vitrectomy (I/A+PCCC+A-Vit. The long-term best-corrected visual acuity (BCVA and the incidence of complications in the different groups were compared and analyzed. RESULTS: A total of 57 participants (114 eyes with a mean follow-up period of 48.7mo were included in the final analysis. The overall logMAR BCVA in the 6-month-old group was better than that in the 3-month-old group (0.81±0.28 vs 0.96±0.30; P=0.02. The overall logMAR BCVA scores in the surgery B group were lower than the scores in the A and C groups (A: 0.80±0.29, B: 1.02±0.28, and C: 0.84±0.28; P=0.007. A multivariate linear regression revealed no significant relationships between the incidence of complications and long-term BCVA. CONCLUSION: It might be safer and more beneficial for bilateral total congenital cataract patients to undergo surgery at 6mo of age than 3mo. Moreover, with rigorous follow-up and timely intervention, the postoperative complications in these patients are treatable and do not compromise visual outcomes."

[Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

Science.gov (United States)

Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

2012-01-01

Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

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Chen, Qiang; Ma, Junjie; Yan, Ming; Mothobi, Maneo Emily; Liu, Yuanyuan; Zheng, Fang

2009-07-10

To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripheral blood. Mutations were screened in cataract-associated candidate genes through polymerase chain reaction (PCR) analyses and sequencing. Structural models of the wild-type and mutant alphaB-crystallin were generated and analyzed by SWISS-MODEL. Mutation screening identified only one heterozygous G-->A transition at nucleotide 32 in the first exon of alphaB-crystallin (CRYAB), resulting in an amino acid change from arginine to histidine at codon 11 (R11H). This mutation segregated in all available affected family members but was not observed in any of the unaffected persons of the family. The putative mutation disrupted a restriction site for the enzyme, Fnu4HI, in the affected family members. The disruption, however, was not found in any of the randomly selected ophthalmologically normal individuals or in 40 unrelated senile cataract patients. Computer-assisted prediction suggested that this mutation affected the biochemical properties as well as the structure of alphaB-crystallin. These results supported the idea that the novel R11H mutation was responsible for the autosomal dominant nuclear congenital cataract in this pedigree.

A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.

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Yao, Ke; Wang, Wei; Zhu, Yanan; Jin, Chongfei; Shentu, Xingchao; Jiang, Jin; Zhang, Yidong; Ni, Shuang

2011-12-01

Congenital cataract (CC) is the leading cause of visual disability in children. To date, mutations in many genes have been linked to CC. In a four-generation Chinese family with congenital nuclear pulverulent and posterior polar cataracts, we detected a heterozygous c.5G>A transition in the second exon of GJA3, resulting in the substitution of a highly conserved glycine with aspartic acid (p.G2D) at the N-terminus of the connexin46 (Cx46) protein. Wild type (wt) and mutant Cx46 plasmids were transfected into HeLa cells to examine the molecular basis of cataract formation. Unlike wt Cx46, Cx46G2D mutant formed gap junction plaques inefficiently, changed hemichannel permeability, and caused apoptosis. These results suggest that the glycine residue at the second position of the N-terminus is important for gap junction plaque formation and hemichannel function. © 2011 Wiley Periodicals, Inc.

[Importance of occlusion therapy for amblyopia in partial unilateral congenital cataracts that are discovered late].

Science.gov (United States)

Denion, E; Dedes, V; Bonne, M; Labalette, P; Berger, C; Guilbert, F; Bouckehove, S; Rouland, J-F

2004-11-01

The aim of this study is to investigate the importance of occlusion therapy for amblyopia in patients with partial unilateral congenital cataracts that were discovered after 24 months of age. A retrospective study was conducted on 11 patients, each of whom underwent a clinical examination including a cycloplegic refraction with atropine. The average age when the cataract was diagnosed was 35 months. The average distance visual acuity was 6/78 and the average near visual acuity was 35/175. Occlusion therapy using adhesive patches was started after refractive error correction. In two cases, observance was mediocre. Ametropia was found in every patient, with anisometropia in nine patients (alpha occlusion therapy for amblyopia, the average visual acuity significantly improved to 6/22 in distance vision (alpha Amblyopia is related to lens opacities as well as frequently associated anisometropia. Functional improvement is greater in near vision than in distance vision. With occlusion therapy for amblyopia, accommodation is preserved. This factor is of utmost importance as near vision is preferential in young children. This study provides an opportunity to recall the importance of refraction and occlusion therapy for amblyopia, which must be systematically attempted in cases of partial unilateral congenital cataracts before considering a surgical procedure.

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Science.gov (United States)

Yao, Ke; Jin, Chongfei; Zhu, Ning; Wang, Wei; Wu, Renyi; Jiang, Jin; Shentu, Xingchao

2008-07-09

To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structural models of the wild type and mutant gammaC-crystallin were generated and analyzed by SWISS-MODEL. Sequencing of the coding regions of CRYGC and CRYGD showed the presence of a heterozygous C>A transversion at c.327 of the coding sequence in exon 3 of CRYGC (c.327C>A), which results in the substitution of a wild type cysteine to a nonsense codon (C109X). One and a half Greek key motifs at the COOH-terminus were found to be absent in the structural model of the mutant truncated gammaC-crystallin. A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

DEFF Research Database (Denmark)

Dad, S.; Østergaard, Elsebet; Thykjær, T.

2010-01-01

Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous...... Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical...... to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic...

Looking the cow in the eye: deletion in the NID1 gene is associated with recessive inherited cataract in Romagnola cattle.

Science.gov (United States)

Murgiano, Leonardo; Jagannathan, Vidhya; Calderoni, Valerio; Joechler, Monika; Gentile, Arcangelo; Drögemüller, Cord

2014-01-01

Cataract is a known condition leading to opacification of the eye lens causing partial or total blindness. Mutations are known to cause autosomal dominant or recessive inherited forms of cataracts in humans, mice, rats, guinea pigs and dogs. The use of large-sized animal models instead of those using mice for the study of this condition has been discussed due to the small size of rodent lenses. Four juvenile-onset cases of bilateral incomplete immature nuclear cataract were recently observed in Romagnola cattle. Pedigree analysis suggested a monogenic autosomal recessive inheritance. In addition to the cataract, one of the cases displayed abnormal head movements. Genome-wide association and homozygosity mapping and subsequent whole genome sequencing of a single case identified two perfectly associated sequence variants in a critical interval of 7.2 Mb on cattle chromosome 28: a missense point mutation located in an uncharacterized locus and an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del). RT-PCR showed that NID1 is expressed in bovine lenses while the transcript of the second locus was absent. The NID1 deletion leads to the skipping of exon 19 during transcription and is therefore predicted to cause a frameshift and premature stop codon (p.1164fs27X). The truncated protein lacks a C-terminal domain essential for binding with matrix assembly complexes. Nidogen 1 deficient mice show neurological abnormalities and highly irregular crystal lens alterations. This study adds NID1 to the list of candidate genes for inherited cataract in humans and is the first report of a naturally occurring mutation leading to non-syndromic catarct in cattle provides a potential large animal model for human cataract.

Looking the Cow in the Eye: Deletion in the NID1 Gene Is Associated with Recessive Inherited Cataract in Romagnola Cattle

Science.gov (United States)

Murgiano, Leonardo; Jagannathan, Vidhya; Calderoni, Valerio; Joechler, Monika; Gentile, Arcangelo; Drögemüller, Cord

2014-01-01

Cataract is a known condition leading to opacification of the eye lens causing partial or total blindness. Mutations are known to cause autosomal dominant or recessive inherited forms of cataracts in humans, mice, rats, guinea pigs and dogs. The use of large-sized animal models instead of those using mice for the study of this condition has been discussed due to the small size of rodent lenses. Four juvenile-onset cases of bilateral incomplete immature nuclear cataract were recently observed in Romagnola cattle. Pedigree analysis suggested a monogenic autosomal recessive inheritance. In addition to the cataract, one of the cases displayed abnormal head movements. Genome-wide association and homozygosity mapping and subsequent whole genome sequencing of a single case identified two perfectly associated sequence variants in a critical interval of 7.2 Mb on cattle chromosome 28: a missense point mutation located in an uncharacterized locus and an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del). RT-PCR showed that NID1 is expressed in bovine lenses while the transcript of the second locus was absent. The NID1 deletion leads to the skipping of exon 19 during transcription and is therefore predicted to cause a frameshift and premature stop codon (p.1164fs27X). The truncated protein lacks a C-terminal domain essential for binding with matrix assembly complexes. Nidogen 1 deficient mice show neurological abnormalities and highly irregular crystal lens alterations. This study adds NID1 to the list of candidate genes for inherited cataract in humans and is the first report of a naturally occurring mutation leading to non-syndromic catarct in cattle provides a potential large animal model for human cataract. PMID:25347398

Congenital myotonic myopathy in the miniature schnauzer: an autosomal recessive trait.

Science.gov (United States)

Vite, C H; Melniczek, J; Patterson, D; Giger, U

1999-01-01

Myotonia is a clinical sign characterized by a delay in skeletal muscle relaxation following electrical or mechanical stimulation. A series of related miniature schnauzer dogs with congenital myotonic myopathy were studied. A composite pedigree of six affected litters and the results of a planned breeding between two affected animals are consistent with an autosomal recessive mode of inheritance.

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

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D. Wong

2013-01-01

Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

Anesthetic dilemma in planning bilateral cataract surgery for an infant associated with congenital cardiac anomaly

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Devalina Goswami

2015-01-01

Full Text Available In a patient with tetralogy of Fallot (TOF and pulmonary atresia, treating the cardiac problem or the associated congenital illness is always a challenge. We describe the challenges and successful initial management of bilateral cataract to prevent visual loss in an infant with TOF with pulmonary atresia.

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

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Teodora Chamova

2015-01-01

Full Text Available Congenital cataracts, facial dysmorphism, neuropathy (CCFDN syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients’ age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN underwent a detailed neurological examination. Verbal and nonverbal intelligence, memory, executive functions, and verbal fluency wеre assessed in all the patients aged 4 to 47 years. Brain magnetic resonance imaging was performed in 20 affected patients. Eighteen affected were classified as having mild intellectual deficit, whereas 4 had borderline intelligence. In all psychometric tests, evaluating different cognitive domains, CCFDN patients had statistically significant lower scores when compared to the healthy control group. All cognitive domains seemed equally affected. The main abnormalities on brain MRI found in 19/20 patients included diffuse cerebral atrophy, enlargement of the lateral ventricles, and focal lesions in the subcortical white matter, different in number and size, consistent with demyelination more pronounced in the older CCFDN patients. The correlation analysis of the structural brain changes and the cognitive impairment found a statistically significant correlation only between the impairment of short-term verbal memory and the MRI changes.

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Science.gov (United States)

Dad, S; Østergaard, E; Thykjaer, T; Albrectsen, A; Ravn, K; Rosenberg, T; Møller, L B

2010-10-01

Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic deafness locus DFNB48. © 2010 John Wiley & Sons A/S.

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia

DEFF Research Database (Denmark)

Hellström Pigg, Maritta; Bygum, Anette; Gånemo, Agneta

2016-01-01

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic...... ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth......-100%). A scoring (0-4) of ichthyosis/ery-thema past infancy showed widely different mean values in the subgroups: HI (3.2/3.1), LI (2.4/0.6), CIE (1.8/1.6), PI (1.1/0.3). Novel or recurrent mutations were found in 113 patients: TGM1 (n = 56), NIPAL4 (n = 15), ALOX12B (n = 15), ABCA12 (n = 8), ALOXE3 (n = 9), SLC27...

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

Science.gov (United States)

Giacomini, Caterina; Musante, Veronica; Fruscione, Floriana; La Padula, Veronica; Biancheri, Roberta; Scarfì, Sonia; Prada, Valeria; Sotgia, Federica; Duncan, Ian D.; Zara, Federico; Werner, Hauke B.; Lisanti, Michael P.; Nobbio, Lucilla; Corradi, Anna; Minetti, Carlo

2012-01-01

“Hypomyelination and Congenital Cataract”, HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification of the cell types expressing a protein of unknown function can contribute to define the physiological context in which the molecule is explicating its function, we analyzed the pattern of Hyccin expression in the central and peripheral nervous system (CNS and PNS). Using heterozygous mice expressing the b-galactosidase (LacZ) gene under control of the Hyccin gene regulatory elements, we show that the gene is primarily expressed in neuronal cells. Indeed, Hyccin-LacZ signal was identified in CA1 hippocampal pyramidal neurons, olfactory bulb, and cortical pyramidal neurons, while it did not colocalize with oligodendroglial or astrocytic markers. In the PNS, Hyccin was detectable only in axons isolated from newborn mice. In the brain, Hyccin transcript levels were higher in early postnatal development (postnatal days 2 and 10) and then declined in adult mice. In a model of active myelinogenesis, organotypic cultures of rat Schwann cells (SC)/Dorsal Root Ganglion (DRG) sensory neurons, Hyccin was detected along the neurites, while it was absent from SC. Intriguingly, the abundance of the molecule was upregulated at postnatal days 10 and 15, in the initial steps of myelinogenesis and then declined at 30 days when the process is complete. As Hyccin is primarily expressed in neurons and its mutation leads to hypomyelination in human patients, we suggest that the protein is involved in neuron-to-glia signalling to initiate or maintain myelination. PMID:22461884

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

Science.gov (United States)

Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

1995-01-01

Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

Studies on congenital hereditary cataract and microphthalmia of the miniature schnauzer dog.

Science.gov (United States)

Shastry, B S; Reddy, V N

1994-09-30

Hereditary cataract in dogs occurs as an autosomal recessive trait. The opacity is primarily in the lens nucleus and posterior cortex. The affected animals also have other ocular abnormalities such as microphthalmia. To understand the genetic basis of this disorder, we have analyzed leukocyte DNA from affected and normal dogs for possible mutations in the homeobox containing gene and myotonic dystrophy locus. The results show that there are no signs of microdeletion, insertion, point mutation and rearrangements in these loci. Although these observations cannot completely rule out the possibility of point mutations, they suggest that the above loci are unlikely to be associated with the disease.

Catarata congénita: actualización Congenital cataract: updating

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Lourdes R Hernández Santos

2004-06-01

Full Text Available Se realizó una revisión del tema relacionado con la catarata congénita, enfermedad que constituye la primera causa de baja visión y la segunda causa de ceguera en Cuba. Se presenta su diagnóstico, antecedentes, clasificación, las características clínicas, entre otras. Además, los principios y técnicas quirúrgicas, complicaciones posquirúrgicas encontradas, así como su pronósticoA review of the topic on congenital cataract, which is the first cause of low vision and the second cause of blindness in Cuba, was made. Its diagnosis, antecedents, classification, clinical characteristics, postsurgical complications found, as well as its prognosis, are presented

A Case of Bilateral Pigment Dispersion Syndrome Following Many Years of Uninterrupted Treatment With Atropine 1% for Bilateral Congenital Cataracts.

Science.gov (United States)

Gizzi, Corrado; Mohamed-Noriega, Jibran; Murdoch, Ian

2017-10-01

Describe an unusual case of bilateral pigment dispersion syndrome (PDS) following years of uninterrupted treatment with atropine 1% for bilateral congenital cataracts, speculate on potential mechanisms leading to this condition. This is a case report. A 45-year-old white patient on long-term treatment with atropine 1% ointment since his infancy for bilateral congenital cataracts developed PDS with secondary ocular hypertension. The patient showed all the hallmarks of PDS with secondary ocular hypertension. An anterior segment Swept-Source optical coherence tomography was obtained to review the iris profile. The patient showed good pressure response to topical prostaglandin therapy. This is the second case report of PDS in a patient with chronic use of topical atropine. The proposed mechanisms for pigment dispersion are discussed and the possibility raised of dispersion being a potential side effect of the drug.

Genetics Home Reference: hypomyelination and congenital cataract

Science.gov (United States)

... Eye Institute: Facts About Cataract National Institute of Neurological Disorders and Stroke: Peripheral Neuropathy Fact Sheet Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Boston Children's Hospital: Nervous ...

Unilateral Congenital Cataract: Clinical Profile and Presentation.

Science.gov (United States)

Khokhar, Sudarshan; Jose, Cijin P; Sihota, Ramanjit; Midha, Neha

2018-03-01

To study the clinical profile and presentation of children with unilateral cataract. In this hospital-based, observational, cross-sectional study, patients 15 years of age or younger who presented with unilateral cataract were recruited. Cases of cataract secondary to causes such as trauma or uveitis were excluded. Age at detection and presentation, distance from the treatment center, presenting complaints, cataract morphology, and biometry were noted for each case. A total of 76 patients were recruited. Most patients presented with complaints of leukocoria. Persistent fetal vasculature accounted for 27.6% of cases and was the most common identifiable cause of cataract in this study. Subsequently, patients were divided into two groups: no persistent fetal vasculature (control) and persistent fetal vasculature. A male predominance was noted in both groups. The mean age at detection was 27.58 ± 37.02 and 6.17 ± 8.42 months and the mean age at presentation was 55.613 ± 45.21 and 14.83 ± 17.75 months in the control and persistent fetal vasculature groups, respectively. In the persistent fetal vasculature group, a significant difference was noted in the axial length, keratometry, and corneal diameter between the affected and normal eyes (P = .027, .00176, and .0114, respectively). In the control group, this difference was observed only in keratometry readings (P = .0464). The mean distance traveled by patients to reach the treatment center was 211 km. Persistent fetal vasculature is an important and less identified cause of unilateral cataract. A significant delay is noted in the detection and presentation of unilateral cataract. [J Pediatr Ophthalmol Strabismus. 2018;55(2):107-112.]. Copyright 2017, SLACK Incorporated.

Vision-related quality of life assessment using the NEI-VFQ-25 in adolescents and young adults with a history of congenital cataract.

LENUS (Irish Health Repository)

Kirwan, Caitriona

2013-07-22

To assess vision-specific health-related quality of life in adolescents and young adults with a history of congenital cataract using the National Eye Institute 25-item Visual Function Questionnaire (NEI-VFQ-25).

Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

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Gosal Gurinder S

2011-03-01

Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

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Margret L Casal

Full Text Available Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del, the 157th base (cytosine in exon 6 of NIPAL4 as the most likely causative variant in affected dogs. This frameshift deletion results in a premature stop codon producing a truncated and defective NIPAL4 (ichthyin protein of 248 amino acids instead of the wild-type length of 404. Obligate carriers were confirmed to be heterozygous for this variant, and 150 clinically non-affected dogs of other breeds were homozygous for the wild-type gene. Among 800 American bulldogs tested, 34% of clinically healthy dogs were discovered to be heterozygous for the defective allele. More importantly, the development of this canine model of autosomal recessive congenital ichthyosis will provide insight into the development of new treatments across species.

Pediatric cataract surgery in Madagascar | Randrianotahina ...

African Journals Online (AJOL)

Conclusions: In Madagascar, presentation for congenital and developmental cataract is very late, visual outcome poor and follow‑up inadequate. There is an urgent need for a childhood blindness program to effectively deal with pediatric cataract, an avoidable cause of blindness and visual disability in children on the island ...

Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis

DEFF Research Database (Denmark)

Hotz, A; Fagerberg, C; Vahlquist, A

2018-01-01

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from...

Genetics Home Reference: congenital cataracts, facial dysmorphism, and neuropathy

Science.gov (United States)

... Eye Institute: Facts About Cataracts National Institute of Neurological Disorders and Stroke: Hereditary Neuropathies Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Centers for Disease Control ...

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

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D. Vaigundan

2014-01-01

Full Text Available Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1 observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

Systemic Comorbidity in Children with Cataracts in Nigeria: Advocacy for Rubella Immunization

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Roseline Duke

2015-01-01

Full Text Available Background. Congenital and developmental cataracts are leading causes of childhood blindness and severe visual impairment. They may be associated with systemic diseases including congenital heart diseases which are among the major causes of morbidity and mortality in childhood. The pattern of systemic comorbidities seen in children diagnosed with cataract in Calabar, Nigeria, was studied. Methods. A retrospective review was conducted on the children who had cataract surgery between 2011 and 2012. Diagnosis of the systemic condition was documented. Results. A total of 66 children were recruited for the study. Cardiac disease was seen in 26 children (39.9%, followed by delayed milestone in 16 (24.2%, intellectual disability in 14 (21.2%, deafness in 11 (16.7%, epilepsy in 4 (6.1%, and physical handicap in 3 (4.5% of them. Clinically confirmed Congenital Rubella Syndrome was seen in 30 (45% of the children. The pattern of CHD seen was as follows: patent ductus arteriosus in 16 (24.2% followed by ventricular-septal defect in 5 (7.6%, atrial-septal defect in 3 (4.5%, and pulmonary stenosis in 2 (3%. Conclusion. Systemic comorbidities, especially cardiac anomalies, are common among children with cataract in Nigeria. Congenital Rubella Syndrome may be a prominent cause of childhood cataract in our environment. Routine immunization of school girls against rubella is advocated as a measure to mitigate this trend.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Science.gov (United States)

Wortmann, Saskia B; Ziętkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B; Gersting, Søren W; Muntau, Ania C; Rakovic, Aleksandar; Renkema, G Herma; Rodenburg, Richard J; Strom, Tim M; Meitinger, Thomas; Rubio-Gozalbo, M Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H; van Karnebeek, Clara; Lillquist, Yolanda; Lücke, Thomas; Õunap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N; Vaz, Frédéric M; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A A P; de Brouwer, Arjan P M; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A

2015-02-05

We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early death. Exome sequencing of two unrelated individuals and subsequent Sanger sequencing of 16 individuals with an overlapping phenotype identified a total of 14 rare, predicted deleterious alleles in CLPB in 14 individuals from 9 unrelated families. CLPB encodes caseinolytic peptidase B homolog ClpB, a member of the AAA+ protein family. To evaluate the relevance of CLPB in the pathogenesis of this syndrome, we developed a zebrafish model and an in vitro assay to measure ATPase activity. Suppression of clpb in zebrafish embryos induced a central nervous system phenotype that was consistent with cerebellar and cerebral atrophy that could be rescued by wild-type, but not mutant, human CLPB mRNA. Consistent with these data, the loss-of-function effect of one of the identified variants (c.1222A>G [p.Arg408Gly]) was supported further by in vitro evidence with the mutant peptides abolishing ATPase function. Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]). Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Anaesthetic Management of A Child with Multiple Congenital Anomalies Scheduled for Cataract Extraction

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Kalpana Kulkarni

2009-01-01

Full Text Available In infants& children variety of conditions and syndromes are associated with difficult Airway. Anaesthetic management becomes a challenge if it remains unrecognized until induction and sometimes results in disaster, leading to oropharyngeal trauma, laryngeal oedema, cardiovascular& neurological complications. A 4-month-old child with multiple congenital anomalies was posted for cataract extraction for early and better development of vision. He had history of post birth respiratory distress, difficulty in feeding, breath holding with delayed mile stones. He was treated as for Juvenile asthma. This child was induced with inhalation anaesthesia. There was difficulty in laryngoscopic intubation and could pass much smaller size of the tube than predicted. He developed post operative stridor and desaturation. The problems which we faced during the anaesthetic management and during postoperative period are discussed with this case.

A locus for isolated cataract on human Xp.

Science.gov (United States)

Francis, P J; Berry, V; Hardcastle, A J; Maher, E R; Moore, A T; Bhattacharya, S S

2002-02-01

To genetically map the gene causing isolated X linked cataract in a large European pedigree. Using the patient registers at Birmingham Women's Hospital, UK, we identified and examined 23 members of a four generation family with nuclear cataract. Four of six affected males also had complex congenital heart disease. Pedigree data were collated and leucocyte DNA extracted from venous blood. Linkage analysis by PCR based microsatellite marker genotyping was used to identify the disease locus and mutations within candidate genes screened by direct sequencing. The disease locus was genetically refined to chromosome Xp22, within a 3 cM linkage interval flanked by markers DXS9902 and DXS999 (Zmax=3.64 at theta=0 for marker DXS8036). This is the first report of a locus for isolated inherited cataract on the X chromosome. The disease interval lies within the Nance-Horan locus suggesting allelic heterogeneity. The apparent association with congenital cardiac anomalies suggests a possible new oculocardiac syndrome.

The genetic landscape of familial congenital hydrocephalus.

Science.gov (United States)

Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

2017-06-01

Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby

NARCIS (Netherlands)

Noguera-Morel, L.; Feito-Rodriguez, M.; Maldonado-Cid, P.; Garcia-Minaur, S.; Kamsteeg, E.J.; Gonzalez-Sarmiento, R.; Lucas-Laguna, R. De; Hernandez-Martin, A.; Torrelo, A.

2016-01-01

Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype

A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

Science.gov (United States)

Yang, Zhenfei; Su, Dongmei; Li, Qian; Ma, Zicheng; Yang, Fan; Zhu, Siquan; Ma, Xu

2013-12-01

To identify the genetic defect in a three-generation Chinese family with congenital cataracts. The phenotype of a three-generation Chinese family with congenital cataract was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the function of mutant gene. The phenotype of the family was identified as nuclear cataract. Direct sequencing revealed a c.161 G > T transversion in exon 1 of crystallin alpha-A (CRYAA). This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members nor in the 100 unrelated controls. Bioinformatics analysis indicated that the 54th amino acid position was highly conserved and the mutation R54L caused an increase of local hydrophobicity around the substitution site. This study identified a novel disease-causing mutation c.161 G > T (p.R54L) in CRYAA in a Chinese family with autosomal dominant nuclear cataracts, this is the first report relating a G > T mutation in CRYAA leading to congenital nuclear cataract.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

DEFF Research Database (Denmark)

Morris-Rosendahl, Deborah J; Segel, Reeval; Born, A Peter

2010-01-01

Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have found...... and may aid the differential diagnosis of Micro Syndrome for patients in the future. All patients had postnatal microcephaly, micropthalmia, microcornia, bilateral congenital cataracts, short palpebral fissures, optic atrophy, severe mental retardation, and congenital hypotonia with subsequent spasticity....... Only one patient had microcephaly at birth, highlighting the fact that congenital microcephaly is not a consistent feature of Micro syndrome. Analysis of the brain magnetic resonance imagings (MRIs) revealed a consistent pattern of polymicrogyria in the frontal and parietal lobes, wide sylvian fissures...

Anesthetic management of cardiac patient for cataract surgery

International Nuclear Information System (INIS)

Farooq, F.B.; Sultan, S.T.

2003-01-01

We are reporting the successful anesthetic management of a 6 years old child, who had cyanotic congenital heart disease and underwent an operation for cataract extraction. Ketamine was used for the induction and maintenance of anesthesia. Ventilation was assisted manually by using laryngeal masks. (author)

Rhizomelic chondrodysplasia punctata and cardiac pathology

NARCIS (Netherlands)

Huffnagel, Irene C.; Clur, Sally-Ann B.; Bams-Mengerink, Annemieke M.; Blom, Nico A.; Wanders, Ronald J. A.; Waterham, Hans R.; Poll-The, Bwee Tien

2013-01-01

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation. Biochemically, the levels of plasmalogens (major constituents of cellular

Congenital Double Elevator Palsy with Sensory Exotropia: A Unique Surgical Management.

Science.gov (United States)

Nagpal, R C; Raj, Anuradha; Maitreya, Amit

2017-01-01

To report a unique surgical approach for congenital double elevator palsy with sensory exotropia. A 7-year-old boy with congenital double elevator palsy and sensory exotropia was managed surgically by Callahan's procedure with recession and resection of the horizontal recti for exotropia without inferior rectus recession, followed by frontalis sling surgery for congenital ptosis. Favourable surgical outcome was achieved without any complication.

Características clínicas y epidemiológicas de la catarata congénita e infantil Clinical and epidemiological characteristics of the congenital and infantile cataract

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Merixy Charón Milián

2012-12-01

Full Text Available Introducción: la catarata de cualquier etiología es la una de las causas más importantes de ceguera tratable en los niños. Objetivos: caracterizar, desde los puntos de vista clínico y epidemiológico, la catarata congénita e infantil. Métodos: se realizó un estudio observacional, descriptivo y retrospectivo en el Hospital Pediátrico "William Soler", entre enero de 2004 y junio de 2006. Se analizaron las variables: edad, sexo, procedencia, vía de captación, síntomas, factores de riesgo, localización, etiología probable y lateralidad de la catarata, alteraciones oculares asociadas y visión posquirúrgica. Los resultados se expresaron en media y porcentaje. Resultados: la edad promedio fue de 4,9 años y para menores de 1 año de 6,6 meses. Predominaron los varones (60,32 %, los pacientes de La Habana (25,4 %, la remisión médica como vía de captación (71,43 %, la leucocoria (30,15 %, la presencia de anomalías congénitas múltiples (34,92 %, la localización central de la catarata (44,44 %, la causa idiopática (41,27 % y la bilateralidad (66,67 %. El 34,92 % de los pacientes tenía asociada otra anomalía ocular, y el 59,04 % de los ojos operados alcanzaron visión entre 0,7 y 1,0. Conclusiones: en la serie analizada predominaron los lactantes menores de 2 meses y los varones, los pacientes de La Habana, la remisión médica, la leucocoria y las anomalías congénitas múltiples asociadas, la localización central y la posible etiología; en las bilaterales, el origen hereditario; y en las unilaterales, la causa desconocida. La mejoría visual posquirúrgica fue mayor a medida que disminuyó la edad del paciente al momento de realizar la cirugía.Introduction: cataract of any etiology is one of the most important causes of treatable blindness in children. Objectives: to clinically and epidemiologically characterize the congenital and infantile cataract. Methods: a retrospective, observational and descriptive study was carried

The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.

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Shanshan Hu

Full Text Available Calmodulin (CaM directly interacts with the aquaporin 0 (AQP0 C-terminus in a calcium dependent manner to regulate the water permeability of AQP0. We previously identified a missense mutation (p.R233K in the putative CaM binding domain of AQP0 C-terminus in a congenital cataract family. This study was aimed at exploring the potential pathogenesis of this mutation causative of cataract and mainly identifying how it influenced the binding of AQP0 to CaM. Wild type and R233K mutant AQP0 with EGFP-tag were transfected separately into Hela cells to determine the expression and subcellular localizations. The co-immunoprecipitation (CoIP assay was used to detect the interaction between AQP0 and CaM. AQP0 C-terminus peptides were synthesized with and without R233K, and the binding abilities of these peptides to CaM were assessed using a fluorescence binding assay. Localizations of wild type and R233K mutant AQP0 were determined from EGFP fluorescence, and the chimeric proteins were both localized abundantly in the plasma membrane. Protein expression levels of the culture cells showed no significant difference between them. The results from CoIP assay implied that R233K mutant presented more weakly in association with CaM than wild type AQP0. The AQP0 C-terminal mutant peptide was found to have 2.5-fold lower binding affinity to CaM than wild type peptide. These results suggested that R233K mutation did not affect the expression, location and trafficking of the protein but did influence the interaction between AQP0 and CaM. The binding affinity of AQP0 C-terminus to CaM was significantly reduced. Due to lack of the modulation of the Ca2+-calmodulin complex, the water permeability of AQP0 was subsequently augmented, which might lead to the development of this cataract.

Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children.

Science.gov (United States)

Martín-Santiago, A; Rodríguez-Pascual, M; Knöpfel, N; Hernández-Martín, Á

2015-11-01

Few studies have investigated ear involvement in nonsyndromic autosomal recessive congenital ichthyosis (ARCI). To assess the type and frequency of otologic manifestations of ARCI in patients under follow-up at the pediatric dermatology department of our hospital. We prospectively studied the presence of ear pain, ear itching, tinnitus, otitis, cerumen impaction, accumulation of epithelial debris, and hearing loss. Daily hygiene measures, topical treatments, medical-surgical interventions, and frequency of visits to an ear, nose, and throat (ENT) specialist were noted in the patients' medical records. Ear examination and hearing tests were performed in all cases. Ten patients were studied: 2 had a self-healing collodion baby phenotype and 8 had ichthyosis. There was mention of otologic manifestations in the records of all 8 patients with ichthyosis (100%); 6 of these patients (75%) had abnormalities in the external auditory canal examination and 2 (25%) had conductive hearing loss. Our findings are limited by the small number of patients studied, all of whom were younger than 19 years. The involvement of both dermatologists and ENT specialists in the management of patients with ichthyosis is crucial to ensure the application of the best therapeutic and preventive measures. More studies are needed to assess the prevalence and impact on quality of life of ear involvement in patients with ichthyosis and to determine the optimal interval between ENT visits for these patients. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.

Persistent fetal vasculature: ocular features, management of cataract and outcomes

Directory of Open Access Journals (Sweden)

Marcia Beatriz Tartarella

2013-06-01

Full Text Available PURPOSES: To describe ocular features, management of cataract and functional outcomes in patients with persistent fetal vasculature. METHODS: Retrospective, descriptive case series of patients with persistent fetal vasculature. Data were recorded from the Congenital Cataract Section of Federal University of São Paulo, Brazil from 2001 to 2012. All patients were evaluated for sex, age at diagnosis, systemic findings, laterality, age at surgery, and initial and final follow-up visual acuities. Follow-up and complications after cataract surgery were recorded. Ultrasound was performed in all cases and ocular eco-Doppler was performed in most. RESULTS: The study comprised 53 eyes from 46 patients. Age at diagnosis ranged from 5 days of life to 10 years-old (mean 22.7 months. Twenty-seven patients were male (58.7%. Persistent fetal vasculature was bilateral in 7 patients (15.2%. Forty-two eyes (79.2% had combined (anterior and posterior forms PFV presentation, 5 eyes (9.4% had only anterior persistent fetal vasculature presentation and 6 eyes (11.3% had posterior persistent fetal vasculature presentation. Thirty-eight eyes (71.7% were submitted to cataract surgery. Lensectomy combined with anterior vitrectomy was performed in 18 eyes (47.4%. Phacoaspiration with intraocular lens implantation was performed in 15 eyes (39.5%, and without lens implantation in 5 eyes (13.2%. Mean follow-up after surgery was 44 months. Postoperative complications were posterior synechiae (3 cases, retinal detachment (2 cases, phthisis (3 cases, posterior capsular opacification (8 cases, inflammatory pupillary membrane (5 cases, glaucoma (4 cases, intraocular lens implantation displacement (1 case and vitreous hemorrhage (2 cases. Complications were identified in 19 (50% of the 38 operated eyes. Visual acuity improved after cataract surgery in 83% of the eyes. CONCLUSIONS: Patients with persistent fetal vasculature have variable clinical presentation. There is an

[Rehabilitation methods for children with complicated cataract].

Science.gov (United States)

Ivanov, G; Cuşnir, V; Septichina, Natalia; Cuşnir, Vitalie

2010-01-01

The work deals with the results of surgical treatment of 155 patients, who had uveal cataract, by method of facoemulsification with artificial crystalline lens transplanting. The age of the sick varied from 3 to 15 as a result of a complex treatment, involving determination of ethnic factor in the development of uveal cataract, before- and after-operation conservative medical treatment, surgical treatment of abscuration ambliopia 78.1% children and the keenness of sight 0.4 and 68.7% got binocularious sight. The study lot of posttraumatic cataract affected children included 189 patients, from them 68 with stationary cataract, 87 with intumescent cataract and 34 with postoperatorial aphakia. Age from 2 to 15 years. 76.3% cases of evolution without postoperatorial complications, in 13.7% intraoperatorial were observed different complications. The work presents the results of surgical treatment 196 of children, who had innate cataract, by the method of facoasoriation with soft intra-eyepiece lens transplanting from 133 patients who had two-sided cataract, 63 had monolateral cataract. All children underwent laser simulation and videocomputer auto-training in post-operation period. As a result of the treatment, 66.8% patients got the amelioration of sight with 0.4, and 58% got binocular sight. The children's age varied between 6 months and 15 years. This article presents a review of the treatment results of 213 children with posttraumatic, congenital and complicated cataracts. The rehabilitation of the patients with the lens pathology includes a complex of measures of early diagnosis, surgery, optimal correction, medical treatment before and after surgery, the prophilaxis and treatment of complications. This approach permits to increase the visual acuity in 83.8% and to restore the binocular vision in 71.4% patients.

A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.

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Yang, Zhenfei; Su, Dongmei; Li, Qian; Yang, Fan; Ma, Zicheng; Zhu, Siquan; Ma, Xu

2012-01-01

The purpose of this study was to identify the disease-causing mutation and the molecular phenotype that are responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. The family history and clinical data were recorded. The patients were given a physical examination and their blood samples were collected for DNA extraction. Direct sequencing was used to detect the mutation. Transcription analysis of the mutant crystallin, beta A1 (CRYBA1/A3) gene was performed to verify whether the defective mutation had influenced the splice of the mature mRNA. The phenotype of the congenital cataract in the family was identified as a nuclear cataract type, by using slit-lamp photography. Direct sequencing revealed a novel mutation IVS3+2 T→G in CRYBA1/A3. This mutation co-segregated with all affected individuals in the family, but was not found in unaffected family members nor in the 100 unrelated controls. Transcription analysis of the mutant CRYBA1/A3 gene indicated that this mutation had influenced the splice of the mature mRNA. Our study identified a novel splice site mutation in CRYBA1/A3. This mutation was responsible for aberrant splicing of the mature mRNA and had caused the congenital nuclear cataracts in the family. This is the first report relating an IVS3+2 T→G mutation of CRYBA1/A3 to congenital cataracts.

Cirurgia da catarata infantil unilateral Unilateral pediatric cataract surgery

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Adriana Maria Drummond Brandão

2008-04-01

Full Text Available OBJETIVO: Analisar os resultados visuais de uma série de crianças operadas de catarata unilateral. MÉTODOS: Um estudo retrospectivo foi realizado através da análise de 35 prontuários médicos do Serviço de Catarata Congênita da UNIFESP/EPM. RESULTADOS: Quanto à etiologia, a primeira causa de catarata foi idiopática, a segunda causa foi o trauma e a terceira foi a rubéola congênita. Em 51,4% dos olhos tinham acuidade visual pré-operatória de ausência de fixação. E em 42,8% dos casos operados a acuidade visual final foi igual ou melhor que 20/200. DISCUSSÃO: Embora a cirurgia em catarata unilateral seja motivo de controvérsias entre os oftalmologistas, obteve-se melhora de acuidade visual em número significativo de casos.PURPOSE: To analyze the results in a series of children submitted to unilateral cataract surgery. METHODS: A retrospective study was conducted through the analysis of 35 patient files from the Congenital Cataract Service of UNIFESP/EPM. RESULTS: The main cause of unilateral cataract was idiopathic, the second cause was ocular trauma and the third cause was congenital rubella. Initial visual acuity was very poor in 51.4% of the cases (did not fix or follow, and the best corrected final visual acuity was better than 20/200 in 42.8% of the eyes. DISCUSSION: Although controversial, the surgical treatment of unilateral cataract, in this study, showed improvement in many cases.

Avaliação da qualidade de vida relacionada à visão em crianças com catarata congênita bilateral Assessing vision-related quality of life in children with bilateral congenital cataracts

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Marcia Caires Bestilleiro Lopes

2009-08-01

Full Text Available OBJETIVO: Avaliar a qualidade de vida relacionada à visão em crianças com catarata congênita bilateral, utilizando o Questionário de Função Visual Infantil (QFVI. MÉTODOS: O QFVI possui duas diferentes apresentações: crianças menores e maiores de 3 anos, sendo dividido em seis domínios: saúde geral, saúde geral da visão, competência, personalidade, impacto familiar e tratamento. O QFVI foi aplicado aos pais/cuidadores/responsáveis de crianças com catarata congênita bilateral do Instituto da Visão da Universidade Federal de São Paulo. As notas encontradas nos domínios foram comparadas entre os grupos controle - crianças com visão normal (n=32, média da idade=38 meses; dp=17,3 e experimental - crianças com catarata congênita (menores de 3 anos, n=19, idade média=14,6 meses; dp=10,7 e maiores de 3 anos, n=18, idade média=4,4 anos; dp=1,5, alocados segundo o grau de comprometimento visual em n=16 - sem deficiência visual; n=10 - deficiência visual leve; n=11 - deficiência visual grave. Para a análise estatística foram utilizados os testes t e análise de variância (ANOVA. RESULTADOS: O grupo experimental apresentou redução estatisticamente significativa em todos os domínios do questionário, quando comparado ao grupo controle. O domínio competência apresentou-se com baixa nota havendo redução estatisticamente significante de acordo com a gravidade da deficiência visual (ANOVA F 5,1, p=0,01; teste de Tukey pPURPOSE: To assess vision-related quality of life in children with bilateral congenital cataracts, using the recently developed Children's Visual Function Questionnaire (CVFQ. METHODS: CVFQ has two presentations, one for children under 3 years of age and the other for older children, and is divided in six subscales - general health; general vision; competence; personality; family impact and treatment. From those, a composite score can also be calculated. The CVFQ was applied in the hospital setting to

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

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Beggs, A.H.; Neumann, P.E.; Anderson, M.S.; Kunkel, L.M. (Harvard Medical School, Boston, MA (United States)); Arahata, Kiichi; Arikawa, Eri; Nonaka, Ikuya (National Inst. of Neuroscience, Tokyo (Japan))

1992-01-15

Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

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Bonioli, E; Palmieri, A; Bertola, A; Bellini, C

1995-01-01

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

Time-reversed ultrasonically encoded optical focusing through highly scattering ex vivo human cataractous lenses

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Liu, Yan; Shen, Yuecheng; Ruan, Haowen; Brodie, Frank L.; Wong, Terence T. W.; Yang, Changhuei; Wang, Lihong V.

2018-01-01

Normal development of the visual system in infants relies on clear images being projected onto the retina, which can be disrupted by lens opacity caused by congenital cataract. This disruption, if uncorrected in early life, results in amblyopia (permanently decreased vision even after removal of the cataract). Doctors are able to prevent amblyopia by removing the cataract during the first several weeks of life, but this surgery risks a host of complications, which can be equally visually disabling. Here, we investigated the feasibility of focusing light noninvasively through highly scattering cataractous lenses to stimulate the retina, thereby preventing amblyopia. This approach would allow the cataractous lens removal surgery to be delayed and hence greatly reduce the risk of complications from early surgery. Employing a wavefront shaping technique named time-reversed ultrasonically encoded optical focusing in reflection mode, we focused 532-nm light through a highly scattering ex vivo adult human cataractous lens. This work demonstrates a potential clinical application of wavefront shaping techniques.

Cataracts

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... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE AND CONGENITAL HEPATIC FIBROSIS: SUMMARY STATEMENT OF A FIRST NATIONAL INSTITUTES OF HEALTH/OFFICE OF RARE DISEASES CONFERENCE

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Gunay-Aygun, Meral; Avner, Ellis D.; Bacallo, Robert L.; Choyke, Peter L.; Flynn, Joseph T.; Germino, Gregory G.; Guay-Woodford, Lisa; Harris, Peter; Heller, Theo; Ingelfinger, Julie; Kaskel, Frederick; Kleta, Robert; LaRusso, Nicholas F.; Mohan, Parvathi; Pazour, Gregory J.; Shneider, Benjamin L.; Torres, Vicente E.; Wilson, Patricia; Zak, Colleen; Zhou, Jing; Gahl, William A.

2010-01-01

Researchers and clinicians with expertise in autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) and related fields met on May 5-6, 2005, on the National Institutes of Health (NIH) campus for a 1.5-day symposium sponsored by the NIH Office of Rare Diseases, the National Human Genome Research Institute (NHGRI), and in part by the ARPKD/CHF Alliance. The meeting addressed the present status and the future of ARPKD/CHF research. PMID:16887426

A CLINICAL STUDY AND MANAGEMENT OF PAEDIATRIC CATARACT, OUR EXPERIENCE

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Satish D. Shet

2017-09-01

Full Text Available BACKGROUND Control of childhood blindness is one of the priorities identified for achieving the goals of Vision-2020 by WHO. This is considered a priority because blind-years (number of years that a blind person lives after going blind due to childhood blindness are second only to cataract and half of childhood blindness is avoidable (treatable/preventable. Paediatric cataract accounts for 12% of the 1.4 million blind children globally. The prevalence of childhood cataract has been reported as 1 to 15 cases in 10,000 children in developing countries. Compared to industrialised countries, this figure is 10 times higher. Early detection and timely treatment of various childhood disorders such as congenital cataract are the most crucial factors for successful outcome. A suitable measure to address amblyopia and posterior capsule opacification post operatively is imperative for successful visual rehabilitation of such children. The objectives of this study were- 1 To study the clinical profile of paediatric cataract. 2 To evaluate the visual outcome after cataract surgery in these patients. 3 To evaluate different causes of visual impairment following management. MATERIALS AND METHODS A prospective study conducted at Karnataka institute of medical sciences department of ophthalmology from October 2015 to September 2016. All children below 14 years of age presenting with cataract will undergo thorough ophthalmologic examination and cataract surgery. RESULTS The results of the present study with 25 paediatric patients (36 eyes indicates that excellent vision can be expected after cataract surgery and posterior chamber IOL implantation coupled with appropriate amblyopia therapy. CONCLUSION The paediatric cataract patients are referred from primary health centers, and district hospital from north Karnataka to KIMS Hubli. All paediatric patients are from lower socio economic status. Early detection of cataracts and referrals to the ophthalmologist can

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands

NARCIS (Netherlands)

Florijn, Ralph J.; Loves, Willem; Maillette de Buy Wenniger-Prick, Liesbeth J. J. M.; Mannens, Marcel M. A. M.; Tijmes, Nel; Brooks, Simon P.; Hardcastle, Alison J.; Bergen, Arthur A. B.

2006-01-01

Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the

X-linked cataract and Nance-Horan syndrome are allelic disorders.

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Coccia, Margherita; Brooks, Simon P; Webb, Tom R; Christodoulou, Katja; Wozniak, Izabella O; Murday, Victoria; Balicki, Martha; Yee, Harris A; Wangensteen, Teresia; Riise, Ruth; Saggar, Anand K; Park, Soo-Mi; Kanuga, Naheed; Francis, Peter J; Maher, Eamonn R; Moore, Anthony T; Russell-Eggitt, Isabelle M; Hardcastle, Alison J

2009-07-15

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.

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Al-Owain, M; Al-Zahrani, J; Al-Bakheet, A; Abudheim, N; Al-Younes, B; Aldhalaan, H; Al-Zaidan, H; Colak, D; Almohaileb, F; Abouzied, M E; Al-Fadhli, F; Meyer, B; Kaya, N

2013-09-01

We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia. The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia. The magnetic resonance imaging showed unusual pattern of swelling of the caudate heads and thinning of the putamina with severe degree of hypometabolism on the [18F] deoxyglucose positron emission tomography. Furthermore, the clinical assessment provides the evidence that the neurological phenotype is very slowly progressive. We utilized the 10K single-nucleotide polymorphism (SNP) microarray genotyping for linkage analysis. Genome-wide scan indicated a 45.9-Mb region with a 4.2353 logarithm of the odds score on chromosome 11. Affymetrix genome-wide human SNP array 6.0 assay did not show any gross chromosomal abnormality. Targeted sequencing of two candidate genes within the linkage interval (PAX6 and B3GALTL) as well as mtDNA genome sequencing did not reveal any putative mutations. © 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

[Expression of mutation type GJA8 gene and wild type GJA8 gene of a congenital inherited nuclear cataract family in eukaryotic cells].

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Zheng, Jian-qiu; Liu, Ping; Wang, Jian-wen; Liu, Jian-ju

2010-04-20

To clone the sequence of mutation type GJA8 gene (mGJA8) and wild type GJA8 gene (wGJA8) of a congenital inherited nuclear cataract family and study their expression in eukaryotic cell lines in vitro. The mGJA8 and wGJA8 were amplified from this family's DNA and healthy people's DNA by PCR respectively. The mGJA8 and wGJA8 were recombined with plasmid pEGFP-N1 respectively. The accuracy of pEGFP-N1-GJA8 was confirmed by restriction enzyme digestion and DNA sequencing. Finally pEGFP-N1- mGJA8 and pEGFP-N1- wGJA8 and GFP protein were transfected into COS7 cells by lipofectin. The expression of pEGFP-N1-GJA8 and GFP fusion protein were to observe under fluorescence microscope, and to detect by Western-blotting and immunohistochemical staining. The mGJA8 and wGJA8 were cloned successfully. With restricting enzyme digestion analysis and DNA sequencing, recombinant plasmid pEGFP-N1-mGJA8 and pEGFP-N1-wGJA8 were constructed correctly and their GFP fusions were expressed in transfected COS7 cells. The expression of pEGFP-N1-mGJA8 and pEGFP-N1-wGJA8 fusion protein were observed under fluorescence microscope, and detected by Western-blotting and immunohistochemical staining successfully. The mGJA8 gene and wGJA8 gene are cloned successfully, and pEGFP-N1-mGJA8 and pEGFP-N1-mGJA8 fusion protein can be expressed in COS7 cells, which establish the foundation for further studying the mechanism of this congenital inherited nuclear cataract family.

The social construction of paediatric cataract: how parents make sense of their child’s condition

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Pradeep Krishnatray

2006-09-01

Full Text Available IntroductionChildhood cataract, congenital and traumatic, is the most common treatable cause of childhood blindness, being responsible for 10 to 30 per cent of all childhood blindness. Preventing blindness from childhood cataract requires not only high-quality paediatric surgery, but also an awareness of parents’ understanding of the eye problem, and why they might not agree to surgery for their child. Several studies have examined the medical and social aspects of childhood cataract. Foster et al.1 point out that childhood blindness has huge socio-economic costs, and restoring the sight of one child blind from cataract is considered equivalent to restoring the sight of 10 elderly adults. It is therefore crucial that we understand why parents might not take up the option of surgery.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

A spontaneous mutation in BALB/c mice that causes congenital dense cataract and microphthalmia (dcm) was reported previously. This abnormality was found to be inheritable and the mode of inheritance indicated that this phenotype is due to mutation of an autosomal recessive gene. We performed genetic screen to ...

Cataracts in New World camelids (llamas, alpacas, vicuñas, and guanacos).

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Gionfriddo, Juliet R

2002-05-01

Cataracts are the most frequently seen lens diseases in New World camelids. The causes of cataracts are unknown in many animals, but cataracts secondary to intraocular inflammation seem to be common. Congenital or juvenile-onset cataracts, if another cause is not apparent, should be considered as possibly caused by heredity, and the affected animals should not be bred. Persistent hyaloid vascular anomalies may also have an important role in cataract formation and could be heritable or caused by an in utero disturbance. Pedigree analyses, test breedings, and possibly DNA studies of llamas with cataracts will be required to determine their potential heritability in these species. Cataract surgery can be done successfully in camelids. It is important to evaluate the posterior segment with B scan ultrasonography before surgery in animals in which the posterior segment previously has not been seen. This evaluation allows the surgeon to better prepare for the presence of hyaloid vascular anomalies. Use of phacoemulsification, gentle tissue handling, liberal use of anti-inflammatory medications and endothelial protectants (BSS + and viscoelastics) during surgery has increased the success rate of this surgery in camelids. Unlike cataract surgery in dogs and horses undergoing, cataract surgery, in camelids seems to be important to remove much of the posterior lens capsule. This removal prevents severe capsular fibrosis and subsequent vision loss. There is evidence that a posterior capsulectomy and anterior viterectomy can help prevent postoperative glaucoma. Research needs to be done to see whether these species have an increased risk for ciliary-block glaucoma.

Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation

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Gregory, L. C.; Humayun, K. N.; Turton, J. P. G.; McCabe, M. J.; Rhodes, S. J.

2015-01-01

Background: LHX4 encodes a member of the LIM-homeodomain family of transcription factors that is required for normal development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies. Objective/Hypothesis: To report a unique family with a novel recessive variant in LHX4 associated with a lethal form of congenital hypopituitarism that was identified through screening a total of 97 patients. Method: We screened 97 unrelated patients with combined pituitary hormone deficiency, including 65% with an ectopic posterior pituitary, for variants in the LHX4 gene using Sanger sequencing. Control databases (1000 Genomes, dbSNP, Exome Variant Server, ExAC Browser) were consulted upon identification of variants. Results: We identified the first novel homozygous missense variant (c.377C>T, p.T126M) in two deceased male patients of Pakistani origin with severe panhypopituitarism associated with anterior pituitary aplasia and posterior pituitary ectopia. Both were born small for gestational age with a small phallus, undescended testes, and mid-facial hypoplasia. The parents' first-born child was a female with mid-facial hypoplasia (DNA was unavailable). Despite rapid commencement of hydrocortisone and T4 in the brothers, all three children died within the first week of life. The LHX4(p.T126M) variant is located within the LIM2 domain, in a highly conserved location. The absence of homozygosity for the variant in over 65 000 controls suggests that it is likely to be responsible for the phenotype. Conclusion: We report, for the first time to our knowledge, a novel homozygous mutation in LHX4 associated with a lethal phenotype, implying that recessive mutations in LHX4 may be incompatible with life. PMID:25871839

Cataract Surgery

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... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Science.gov (United States)

Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert

2018-03-01

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

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Berger, W; van Duijnhoven, G; Pinckers, A; Smits, A; Ropers, H H; Cremers, F

1995-01-01

Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.

Renal abnormalities in congenital chloride diarrhea

International Nuclear Information System (INIS)

Al-Hamad, Nadia M.; Al-Eisa, Amal A.

2004-01-01

Congenital chloride diarrhea CLD is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride >90 mmol/l. We report 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome. (author)

Effect of Timing of Initial Cataract Surgery, Compliance to Amblyopia Therapy on Outcomes of Secondary Intraocular Lens Implantation in Chinese Children: A Retrospective Case Series

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Liuyang Li

2018-01-01

Full Text Available Purpose. As a secondary analysis, we reassess the association of initial congenital cataract surgery times, compliance to amblyopia therapy, and visual outcomes for a long-term follow-up in a secondary IOL implantation. Methods. Retrospective review of records of all infants with congenital cataracts who underwent secondary IOL implantation in the Eye and ENT Hospital of Fudan University from January 1, 2001, to December 31, 2007, and the minimum follow-up period was 5 years. Multiple regression analysis was used and the possible confounding factors were also analyzed to assess the effect on visual outcome. Results. A total of 110 patients (male: 59.1% were included. The median (min–max age at cataract extraction and IOL implantation was 7.5 (3.0–15.0 and 35.0 (22.0–184.0 months, respectively, and the average follow-up period was 99.3 ± 23.6 months. The median (min–max BCVA at final follow-up was 0.20 (0.01–1.00. Compliance to amblyopia therapy was none, poor, and good in 21.8%, 24.5%, and 53.6%, respectively. Postoperative BCVA [logMAR, median (min–max 0.70 (0.00–2.00] linearly decreased with increasing cataract extraction time (per month (β=0.04, 95% CI: 0.03–0.06, p<0.0001 in multivariable models with laterality and compliance to amblyopia therapy adjusted. Good compliance to amblyopia therapy was associated with better BCVA (logMAR at last follow-up (β=−0.40, 95% CI = −0.53 to −0.27, p<0.0001 with laterality, opacity type, and extraction time adjusted. Conclusions. For Chinese infants with congenital cataract, an earlier primary congenital cataract surgery at an age of 3 to 15 months is associated with a better visual outcome. Good compliance to amblyopia therapy was also significant to visual outcome.

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

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Bochner, Ron; Samuelov, Liat; Sarig, Ofer; Li, Qiaoli; Adase, Christopher A; Isakov, Ofer; Malchin, Natalia; Vodo, Dan; Shayevitch, Ronna; Peled, Alon; Yu, Benjamin D; Fainberg, Gilad; Warshauer, Emily; Adir, Noam; Erez, Noam; Gat, Andrea; Gottlieb, Yehonatan; Rogers, Tova; Pavlovsky, Mor; Goldberg, Ilan; Shomron, Noam; Sandilands, Aileen; Campbell, Linda E; MacCallum, Stephanie; McLean, W H Irwin; Ast, Gil; Gallo, Richard L; Uitto, Jouni; Sprecher, Eli

2017-02-01

Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis. Because the patient displayed an atypical phenotype, including severe hair and nail manifestations, we scrutinized the exome sequencing data for additional potentially deleterious genetic variations in genes of relevance to the cornification process. Two mutations were identified in CAPN12, encoding a member of the calpain proteases: a paternal missense mutation (c.1511C>A; p.P504Q) and a maternal deletion due to activation of a cryptic splice site in exon 9 of the gene (c.1090_1129del; p.Val364Lysfs*11). The calpain 12 protein was found to be expressed in both the epidermis and hair follicle of normal skin, but its expression was dramatically reduced in the patient's skin. The downregulation of capn12 expression in zebrafish was associated with abnormal epidermal morphogenesis. Small interfering RNA knockdown of CAPN12 in three-dimensional human skin models was associated with acanthosis, disorganized epidermal architecture, and downregulation of several differentiation markers, including filaggrin. Accordingly, filaggrin expression was almost absent in the patient skin. Using ex vivo live imaging, small interfering RNA knockdown of calpain 12 in skin from K14-H2B GFP mice led to significant hair follicle catagen transformation compared with controls. In summary, our results indicate that calpain 12 plays an essential role during epidermal ontogenesis and normal hair follicle cycling and that

Anaesthetic Management for Cataract Surgery in VACTERL Syndrome Case Report

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Sonal S Khatavkar

2009-01-01

Full Text Available Eight year old girl, weighing 14 kg with VACTERL syndrome V: Vertebral anomalies, A: Anal malformation, C: Cardiovascular defect, TE: Tracheal and esophageal malformation, R:Renal agenesis, L: Limb anomalies., underwent cataract surgery under general anaesthesia. She had multiple congenital anomalies like esophageal atresia, imperfo-rate anus (corrected, single kidney& radial aplasia. Anticipating problems of gastro-esophageal reflux& chronic renal failure, successful management was done.

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

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Rafael Fabiano Machado Rosa

Full Text Available CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives. The parents had normal head circumferences and intelligence. The patient presented microcephaly and specific abnormalities of the retina, with multiple diffuse oval areas of pigmentation and patches of chorioretinal atrophy associated with diffuse pigmentation of the fundus. Ophthalmological evaluations on the parents were normal. A computed tomography scan of the child's head showed slight dilation of lateral ventricles and basal cisterns without evidence of calcifications. We did not find any lymphedema in his hands and feet. He had postnatal growth retardation, severe mental retardation and cerebral palsy.CONCLUSIONS: The finding of chorioretinal lesions in a child with microcephaly should raise suspicions of the autosomal recessive form of microcephaly-chorioretinopathy syndrome, especially in cases with an atypical pattern of eye fundus and consanguinity. A specific diagnosis is essential for an appropriate clinical evaluation and for genetic counseling for the patients and their families.

Cataract Vision Simulator

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... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma

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Kumar, Amandeep; Bansal, Ankit; Garg, Ajay; Sharma, Bhawani S.

2014-01-01

Abstract Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed. PMID:27928292

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

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Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

2015-07-01

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Basic multisensory functions can be acquired after congenital visual pattern deprivation in humans.

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Putzar, Lisa; Gondan, Matthias; Röder, Brigitte

2012-01-01

People treated for bilateral congenital cataracts offer a model to study the influence of visual deprivation in early infancy on visual and multisensory development. We investigated cross-modal integration capabilities in cataract patients using a simple detection task that provided redundant information to two different senses. In both patients and controls, redundancy gains were consistent with coactivation models, indicating an integrated processing of modality-specific information. This finding is in contrast with recent studies showing impaired higher-level multisensory interactions in cataract patients. The present results suggest that basic cross-modal integrative processes for simple short stimuli do not depend on visual and/or crossmodal input since birth.

Basic multisensory functions can be acquired after congenital visual pattern deprivation in humans

DEFF Research Database (Denmark)

Putzar, L.; Gondan, Matthias; Röder, B.

2012-01-01

People treated for bilateral congenital cataracts offer a model to study the influence of visual deprivation in early infancy on visual and multisensory development. We investigated cross-modal integration capabilities in cataract patients using a simple detection task that provided redundant...... information to two different senses. In both patients and controls, redundancy gains were consistent with coactivation models, indicating an integrated processing of modality-specific information. This finding is in contrast with recent studies showing impaired higher-level multisensory interactions...... in cataract patients. The present results suggest that basic cross-modal integrative processes for simple short stimuli do not depend on visual and/or crossmodal input since birth....

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

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Avrahami, L.; Maas, S.; Pasmanik-Chor, M.; Rainshtein, L.; Magal, N.; Smitt, J. H. S.; van Marle, J.; Shohat, M.; Basel-Vanagaite, L.

2008-01-01

Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease

Three cases of extracapsular cataract extraction for radiation cataract

International Nuclear Information System (INIS)

Hirokane, Kenji; Kosaka, Toshiya; Nii, Hiroki; Kiuchi, Yoshiaki; Nakano, Kensuke; Choshi, Kanji

1996-01-01

Extracapsular cataract extraction and intraocular lens implantation was performed on 4 eyes of 3 patients with radiation cataract. Case 1 was a 60-year-old man who was exposed to the ionizing radiation of the atomic bomb in Hiroshima 730 meters from the center of the explosion. He developed atomic bomb radiation senile cataracts in both eyes. Despite cataract surgery, a central plaque remained on the posterior capsule in the region corresponding to the central dense opacity in both eyes. Case 2 was an 81-year-old man who was in a streetcar 1,000 meters from the center of the explosion at the time of the atomic bombing. Senile and radiation-induced cataract decreased the visual acuity in both eyes. After extracapsular cataract extraction in his right eye, central opacification and a fibrous white membrane remained on the posterior capsule. These were removed by Nd-YAG laser capsulotomy six days after surgery. Case 3 was a 56-year-old man who developed radiation cataract after radiation therapy to a malignant lymphoma in the right orbit. Phacoemulsification and aspiration could not remove the fibrous white membrane from the posterior capsule in this case. Central opacities and fibrous white membranes on the posterior capsule after cataract surgery appears to be a characteristic of radiation cataract. (author)

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

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Saunders, Carol; Smith, Laurie; Wibrand, Flemming

2015-01-01

of type IV 3-MGA-uria characterized by cataracts, severe psychomotor regression during febrile episodes, epilepsy, neutropenia with frequent infections, and death in early childhood. Four of the individuals were of Greenlandic descent, and one was North American, of Northern European and Asian descent...

New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.

Directory of Open Access Journals (Sweden)

Sarah Kunze

Full Text Available Cataracts are the major eye disorder and have been associated mainly with mutations in lens-specific genes, but cataracts are also frequently associated with complex syndromes. In a large-scale high-throughput ENU mutagenesis screen we analyzed the offspring of paternally treated C3HeB/FeJ mice for obvious dysmorphologies. We identified a mutant suffering from rough coat and small eyes only in homozygotes; homozygous females turned out to be sterile. The mutation was mapped to chromosome 7 between the markers 116J6.1 and D7Mit294;4 other markers within this interval did not show any recombination among 160 F2-mutants. The critical interval (8.6 Mb contains 3 candidate genes (Apoe, Six5, Opa3; none of them showed a mutation. Using exome sequencing, we identified a c.2209T>C mutation in the Xpd/Ercc2 gene leading to a Ser737Pro exchange. During embryonic development, the mutant eyes did not show major changes. Postnatal histological analyses demonstrated small cortical vacuoles; later, cortical cataracts developed. Since XPD/ERCC2 is involved in DNA repair, we checked also for the presence of the repair-associated histone γH2AX in the lens. During the time, when primary lens fiber cell nuclei are degraded, γH2AX was strongly expressed in the cell nuclei; later, it demarcates clearly the border of the lens cortex to the organelle-free zone. Moreover, we analyzed also whether seemingly healthy heterozygotes might be less efficient in repair of DNA damage induced by ionizing radiation than wild types. Peripheral lymphocytes irradiated by 1Gy Cs137 showed 6 hrs after irradiation significantly more γH2AX foci in heterozygotes than in wild types. These findings demonstrate the importance of XPD/ERCC2 not only for lens fiber cell differentiation, but also for the sensitivity to ionizing radiation. Based upon these data, we hypothesize that variations in the human XPD/ERCC2 gene might increase the susceptibility for several disorders besides Xeroderma

Congenital generalized lipodystrophia: a case report

International Nuclear Information System (INIS)

Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V.

1995-01-01

Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs

Maxillary Hypoplasia With Congenital Oligodontia Treated by Maxillary Distraction Osteogenesis.

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Mishima, Sayaka; Yamaguchi, Takako; Watanabe, Takuma; Komatani, Toru; Nakao, Kazumasa; Takahashi, Katsu; Bessho, Kazuhisa

2018-02-27

It is known that congenitally missing teeth can often cause differences in craniofacial morphology; however, there are few reported cases of orthognathic surgical treatment for these patients. Herein, the authors report a rare case of maxillary hypoplasia with congenital oligodontia treated by maxillary distraction osteogenesis with internal device. A 17-year-old male presenting with multiple tooth agenesis and maxillary recession was referred to our hospital for orthognathic surgical treatment. Preoperative simulation surgery was performed using Full-Color 3-dimensional salt model. After surgery, improvement in maxillary recession and occlusal stability was observed. This report demonstrates the advantages of the method used herein, which includes reduction in operating time with increase in the safety of the procedure.

Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

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Lewis, R A; Nussbaum, R L; Stambolian, D

1990-01-01

The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies. The regional location of the genetic mutation causing NHS is unknown. The authors applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to five multigenerational kindreds in which NHS segregated. Provisional linkage is established to two DNA markers--DXS143 at Xp22.3-p22.2 and DXS43 at Xp22.2. Regional localization of NHS will provide potential antenatal diagnosis in families at risk for the disease and will enhance understanding of the multifaceted genetic defects.

Evaluation of a Public Child Eye Health Tertiary Facility for Pediatric Cataract in Southern Nigeria I: Visual Acuity Outcome

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Duke, Roseline E.; Adio, Adedayo; Oparah, Sidney K.; Odey, Friday; Eyo, Okon A.

2016-01-01

Purpose: A retrospective study of the outcome of congenital and developmental cataract surgery was conducted in a public child eye health tertiary facility in children <16 years of age in Southern Nigeria, as part of an evaluation. Materials and Method: Manual Small Incision Cataract Surgery with or without anterior vitrectomy was performed. The outcome measures were visual acuity (VA) and change (gain) in visual acuity. The age of the child at onset, duration of delay in presentation, ocular co-morbidity, non ocular co-morbidity, gender, and pre operative visual acuity were matched with postoperative visual acuity. A total of 66 children were studied for a period of six weeks following surgery. Results: Forty eight (72.7%) children had bilateral congenital cataracts and 18 (27.3%) children had bilateral developmental cataracts. There were 38(57.6%) males and 28 (42.4%) females in the study. Thirty Five (53%) children had good visual outcome (normal vision range 6/6/ -6/18) post-operatively. The number of children with blindness (vision <3/60) decreased from 61 (92.4%) pre-operatively to 4 (6.1%) post-operatively. Post operative complication occurred in 6.8% of cases six week after surgery. Delayed presentation had an inverse relationship with change (gain) in visual acuity (r = - 0.342; p-value = 0.005). Pre-operative visual acuity had a positive relationship with post operative change (gain) in visual acuity (r = 0.618; p-value = 0.000). Conclusion: Predictors of change in visual acuity in our study were; delayed presentation and pre-operative VA. Cataract surgery in children showed clinical benefit. PMID:27347247

Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant

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Nag, Nabanita; Peterson, Katherine; Wyatt, Keith; Hess, Sonja; Ray, Sugata; Favor, Jack; Bogani, Debora; Lyon, Mary; Wistow, Graeme

2007-01-01

No3 (nuclear opacity 3) is a novel congenital nuclear cataract in mice. Microsatellite mapping placed the No3 locus on chromosome 1 between D1Mit480 (32cM) and D1Mit7 (41cM), a region containing seven crystallin genes; Cryba2 and the Cryga-Crygf cluster. Although polymorphic variants were observed, no candidate mutations were found for six of the genes. However, DNA walking identified a murine endogenous retrovirus (IAPLTR1: ERVK) insertion in exon 3 of Cryge, disrupting the coding sequence for γE-crystallin. Recombinant protein for the mutant γE was completely insoluble. The No3 cataract is mild compared with the effects of similar mutations of γE. Quantitative RT-PCR showed that γE/F mRNA levels are reduced in No3, suggesting that the relatively mild phenotype results from suppression of γE levels due to ERVK insertion. However, the severity of cataract is also strain dependent suggesting that genetic background modifiers also play a role in the development of opacity. PMID:17223009

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Science.gov (United States)

Florijn, Ralph J; Loves, Willem; Maillette de Buy Wenniger-Prick, Liesbeth J J M; Mannens, Marcel M A M; Tijmes, Nel; Brooks, Simon P; Hardcastle, Alison J; Bergen, Arthur A B

2006-09-01

Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. We identified an unique mutation in each family. Three out of these four mutations were not reported before. We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders.

Japanese family with congenital factor VII deficiency.

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Sakakibara, Kanae; Okayama, Yoshiki; Fukushima, Kenji; Kaji, Shunsaku; Muraoka, Michiko; Arao, Yujiro; Shimada, Akira

2015-10-01

Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered. © 2015 Japan Pediatric Society.

Abordagem da Catarata Congênita: análise de série de casos Approach to Congenital Cataract: case series analysis

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Marina Soares Viegas Moura Rezende

2008-02-01

êm para o prognóstico visual funcional.INTRODUCTION: Congenital cataract is an important cause of poor visual acuity and amblyopia, with an incidence of 0,4%. Surgical approaches in children present many advances through the years, such as intraocular lenses implantation and others thechniques, wich results in better visual outcomes and prevention of amblyopia. PURPOSE: To report the early outcomes of a series of cases submited to different surgical techiniques for pediatric cataract, in the Tadeu Cvintal Ophthalmology Institute, from January 2004 to January 2005. METHODS: Retrospective study in 19 children (32 eyes with congenital cataract.The surgical management was separated in three series: pars plana lensectomy, phacoaspiration with or without intraocular lenses; and also separated in patients who had been submitted to posterior capsulotomy.Visual acuity has been tested with four months of follow up. RESULTS: Lensectomy was performed on eight cases, phacoaspiration with intraocular lenses implantation on 13, phacoaspiration without intraocular lenses on 11. Ten eyes had primary posterior capsulotomy, 13 had secondary posteior capsulotomy one month after initial surgery, nine did not need secondary surgery for capsular opacification. The only observed complication was capsule opacification in 60% of the cases. Fourteen (14 eyes (43% had visual acuity between 20/20 and 20/40 (LoGMAR +0.0 to + 0.3, from which eight were operated on bilateral cataract. The mean age in the group with best visual acuity was 7 yrs old. Seven eyes from this group (50% had phacoaspiration with intraocular lenses implantation, and five (35% with secondary capsulotomy. CONCLUSIONS: This series showed good visual and functional early outcomes, even with a small and heterogeneous sample. A longer follow-up is needed to evaluate the different prognosis for each surgical technique .

Catarata congênita: aspectos diagnósticos, clínicos e cirúrgicos em pacientes submetidos a lensectomia Congenital cataract: diagnostic, clinic and surgical features in patients submitted to lensectomy

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Márcia Lima Santos Oliveira

2004-12-01

Full Text Available OBJETIVO: Estabelecer o perfil clínico-terapêutico e resultados cirúrgicos de crianças submetidas a lensectomia. MÉTODOS: Estudo retrospectivo de 89 olhos operados de 62 crianças do Setor de Catarata Congênita do Departamento de Oftalmologia da UNIFESP-EPM. RESULTADOS: Entre as 62 crianças, 30,64% apresentaram causa infecciosa, 19,36% genética e 50% idiopática. Estrabismo foi encontrado em 54,83% das crianças e 27,42% apresentaram alterações sistêmicas. Quanto às condições gestacionais, 22,58% das mães não realizaram adequadamente o pré-natal. Consangüinidade foi observada em 17,74% dos casais e catarata congênita em 9,68% dos familiares. A suspeita diagnóstica foi realizada pelas mães em 72,58% dos casos, sendo leucocoria o principal sinal. A idade da suspeita diagnóstica variou de imediatamente após o nascimento até 15 meses (média = 1,34 meses, ao passo que a idade de atendimento no serviço variou de 8 dias a 20 meses (média = 5,84 meses. Opacidade secundária de eixo visual foi a principal complicação cirúrgica, ocorrendo em 19,1% dos olhos operados. Com relação à adesão ao tratamento pós-operatório, 45,16% apresentaram dificuldades quanto ao uso de oclusivo, óculos ou colírios. CONCLUSÃO: A rubéola persiste como uma das principais causas de catarata congênita em nosso meio, sendo necessário maior atenção às medidas preventivas A suspeita diagnóstica inicial da catarata é realizada principalmente pelas mães (72,58% e até os 3 meses de idade (93,44% período ideal para a recuperação visual. Há, porém, demora considerável entre a suspeita e o atendimento no serviço especializado. A realização tardia da cirurgia, juntamente com insatisfatória adesão ao tratamento pós-cirúrgico, compromete os resultados visuais finais.PURPOSE: To analyze the clinical and therapeutic profiles of children with congenital cataract submitted to lensectomy. METHODS: Retrospective study of 89 eyes of 62

Unfolded-protein response-associated stabilization of p27(Cdkn1b) interferes with lens fiber cell denucleation, leading to cataract

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Failure of lens fiber cell denucleation (LFCD) is associated with congenital cataracts, but the pathobiology awaits elucidation. Recent work has suggested that mechanisms that direct the unidirectional process of LFCD are analogous to the cyclic processes associated with mitosis. We found that lens-...

Congenital nephrotic syndrome. Gallium-67 imaging

International Nuclear Information System (INIS)

Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

1988-01-01

Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

NARCIS (Netherlands)

van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

Femtosecond laser-assisted compared with standard cataract surgery for removal of advanced cataracts.

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Hatch, Kathryn M; Schultz, Tim; Talamo, Jonathan H; Dick, H Burkhard

2015-09-01

To compare effective phacoemulsification time (EPT) for the removal of brunescent cataracts treated with femtosecond laser-assisted cataract surgery with standard cataract phacoemulsification techniques. Ruhr University Eye Hospital, Bochum, Germany. Comparative prospective case study. The Lens Opacities Classification System III (LOCS III) grading system was used to measure eyes divided into 4 groups having cataract surgery. Groups 1 and 2 contained eyes with LOCS III grade nuclear opalescence (NO) 3 cataracts treated with standard cataract surgery and femtosecond laser-assisted cataract surgery, respectively. Groups 3 and 4 contained brunescent cataracts, LOCS III grades NO5, treated with standard cataract surgery and femtosecond laser-assisted cataract surgery, respectively. There were 240 eyes, with 60 eyes in each group. The EPT in Group 1 ranged from 0.46 to 3.10 (mean 1.38); the EPT in all eyes in Group 2 was 0 (P Talamo, and Dick are consultants to Abbott Medical Optics, Inc. Dr. Schultz has no financial or proprietary interest in any material or method mentioned. Copyright © 2015 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation

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Llorente-González S

2011-12-01

Full Text Available Sara Llorente-González1, J Peralta-Calvo2, JM Abelairas-Gómez21Ophthalmology Service of Hospital de Torrejón, Madrid, Spain; 2Ophthalmology Service of Hospital Universitario La Paz, Madrid, SpainObjective: To describe the prevalence of congenital anophthalmia and microphthalmia in Hospital Universitario La Paz, and to identify associated risk factors and evaluate cosmetic results in treated and nontreated patients.Methods: A retrospective, descriptive, cross-sectional study of patients treated with orbital expanding techniques (cases and nontreated patients (controls was carried out as a comparative case series study. A total of 36 patients with unilateral or bilateral anophthalmia or microphthalmia as main diagnosis were included; 52 epidemiological and management variables for each patient were analyzed. The study evaluated orbital growth and facial symmetry.Results: The overall cosmetic result in the study’s group of patients was satisfactory: 66.7% showed good or very good orbital growth, and 75% showed good or very good facial symmetry. Controls had better cosmetic outcome but showed more cataracts (P = 0.05, inferior colobomas (P = 0.026, and family history (P = 0.056 than the cases. Controls also showed significantly better orbital growth (P = 0.042 and facial symmetry (P = 0.014 than the cases.Conclusion: This study suggests that the mere presence of a globe (controls still provides better orbitofacial development than the artificial stimulation (cases currently available for patients with congenital anophthalmia and microphthalmia, who receive internal and external orbital rehabilitation.Keywords: cosmetic outcome, orbital rehabilitation, ocular malformation, congenital cataract, persistent fetal vasculature

Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.

Science.gov (United States)

Stambolian, D; Favor, J; Silvers, W; Avner, P; Chapman, V; Zhou, E

1994-07-15

The Xcat mutation in the mouse, an X-linked inherited disorder, is characterized by the congenital onset of cataracts. The cataracts have morphologies similar to those of cataracts found in the human Nance Horan (X-linked cataract dental) syndrome, suggesting that Xcat is an animal model for Nance Horan. The Xcat mutation provides an opportunity to investigate, at the molecular level, the pathogenesis of cataract. As a first step to cloning the Xcat gene, we report the localization of the Xcat mutation with respect to known molecular markers on the mouse X chromosome. Back-cross progeny carrying the Xcat mutation were obtained from an interspecific cross. Genomic DNA from each mouse was subjected to Southern and PCR analysis to identify restriction fragment length polymorphisms and simple sequence length polymorphisms, respectively. Our results refine the location of Xcat to a 2-cM region, eliminate several genes from consideration as the Xcat mutation, identify molecular probes tightly linked with Xcat, and suggest candidate genes responsible for the Xcat phenotype.

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

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Khan, Arif O; Aldahmesh, Mohammed A; Mohamed, Jawahir Y; Alkuraya, Fowzan S

2012-06-01

To correlate clinical examination with underlying genotype in asymptomatic females who are potential carriers of X-linked developmental cataract (Nance-Horan syndrome). An ophthalmologist blind to the pedigree performed comprehensive ophthalmic examination for 16 available family members (two affected and six asymptomatic females, five affected and three asymptomatic males). Facial features were also noted. Venous blood was collected for sequencing of the gene NHS. All seven affected family members had congenital or infantile cataract and facial dysmorphism (long face, bulbous nose, abnormal dentition). The six asymptomatic females ranged in age from 4-35 years old. Four had posterior Y-suture centered lens opacities; these four also exhibited the facial dysmorphism of the seven affected family members. The fifth asymptomatic girl had scattered fine punctate lens opacities (not centered on the Y-suture) while the sixth had clear lenses, and neither exhibited the facial dysmorphism. A novel NHS mutation (p.Lys744AsnfsX15 [c.2232delG]) was found in the seven patients with congenital or infantile cataract. This mutation was also present in the four asymptomatic girls with Y-centered lens opacities but not in the other two asymptomatic girls or in the three asymptomatic males (who had clear lenses). Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females. Lens opacities that did not have this characteristic morphology in a suspected female carrier were not a carrier sign, even in the context of her affected family members.

Cataract surgery output and cost of hospitalization for cataract ...

African Journals Online (AJOL)

Si nous devons réussir à éliminer les arrièrs problèmes des cataracts de plus de ½ million cas, nos efforts sur la chirurgie de cataracte devraient porter principalement sur des programmes visant sur des measures preventives contre les incidences de la cécité. 106 cas des chirurgies cataracts avaient été opérées Durant la ...

Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia

OpenAIRE

Saad, Amin F.; Ford, Kenneth L.; dePrisco, Gregory; Smerud, Michael J.

2013-01-01

Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia.

Science.gov (United States)

Saad, Amin F; Ford, Kenneth L; Deprisco, Gregory; Smerud, Michael J

2013-07-01

Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

Identification of cataract and post-cataract surgery optical images using artificial intelligence techniques.

Science.gov (United States)

Acharya, Rajendra Udyavara; Yu, Wenwei; Zhu, Kuanyi; Nayak, Jagadish; Lim, Teik-Cheng; Chan, Joey Yiptong

2010-08-01

Human eyes are most sophisticated organ, with perfect and interrelated subsystems such as retina, pupil, iris, cornea, lens and optic nerve. The eye disorder such as cataract is a major health problem in the old age. Cataract is formed by clouding of lens, which is painless and developed slowly over a long period. Cataract will slowly diminish the vision leading to the blindness. At an average age of 65, it is most common and one third of the people of this age in world have cataract in one or both the eyes. A system for detection of the cataract and to test for the efficacy of the post-cataract surgery using optical images is proposed using artificial intelligence techniques. Images processing and Fuzzy K-means clustering algorithm is applied on the raw optical images to detect the features specific to three classes to be classified. Then the backpropagation algorithm (BPA) was used for the classification. In this work, we have used 140 optical image belonging to the three classes. The ANN classifier showed an average rate of 93.3% in detecting normal, cataract and post cataract optical images. The system proposed exhibited 98% sensitivity and 100% specificity, which indicates that the results are clinically significant. This system can also be used to test the efficacy of the cataract operation by testing the post-cataract surgery optical images.

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

Science.gov (United States)

Ullah, Rahim; Ansar, Muhammad; Durrani, Zaka Ullah; Lee, Kwanghyuk; Santos-Cortez, Regie Lyn P.; Muhammad, Dost; Ali, Mahboob; Zia, Muhammad; Ayub, Muhammad; Khan, Suliman; Smith, Josh D.; Nickerson, Deborah A.; Shendure, Jay; Bamshad, Michael; Leal, Suzanne M.; Ahmad, Wasim

2016-01-01

Background Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities. Methods The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive congenital ichthyosis (ARCI). Linkage in three consanguineous families (A, B, C) segregating two different forms of ARCI was searched by typing microsatellite and single nucleotide polymorphism marker analysis. Sequencing of the two genes TGM1 and ALOXE3 was performed by the dideoxy chain termination method. Results Genome-wide linkage analysis established linkage in family A to TGM1 gene on chromosome 14q11 and in families B and C to ALOXE3 gene on chromosome 17p13. Subsequently, sequencing of these genes using samples from affected family members led to the identification of three novel mutations: a missense variant p.Trp455Arg in TGM1 (family A); a nonsense variant p.Arg140* in ALOXE3 (family B); and a complex rearrangement in ALOXE3 (family C). Conclusion The present study further extends the spectrum of mutations in the two genes involved in causing ARCI. Characterizing the clinical spectrum resulting from mutations in the TGM1 and ALOXE3 genes will improve diagnosis and may direct clinical care of the family members. PMID:26578203

Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

Energy Technology Data Exchange (ETDEWEB)

Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

1995-12-04

The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

Recognizing Cataracts

Science.gov (United States)

... age-related cataract. They recommend eating plenty of green leafy vegetables, fruits, nuts and other healthy foods. Also, don’t smoke, because smoking may speed cataract development. To screen for early signs of eye disease, Bishop recommends ...

The lens and cataracts.

Science.gov (United States)

Matthews, Andrew G

2004-08-01

It is conservatively estimated that some form of lens opacity is present in 5% to 7% of horses with otherwise clinically normal eyes.These opacities can range from small epicapsular remnants of the fetal vasculature to dense and extensive cataract. A cataract is defined technically as any opacity or alteration in the optical homogeneity of the lens involving one or more of the following: anterior epithelium, capsule, cortex, or nucleus. In the horse, cataracts rarely involve the entire lens structure (ie, complete cataracts) and are more usually localized to one anatomic landmark or sector of the lens. Complete cataracts are invariably associated with overt and significant visual disability. Focal or incomplete cataracts alone seldom cause any apparent visual dysfunction in affected horses,however.

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Science.gov (United States)

Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

2003-11-01

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

Aging and Health: Cataracts

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... Problems Glaucoma Macular Degeneration Join our e-newsletter! Aging & Health A to Z Cataracts Basic Facts & Information ... Are Cataracts? Cataracts are a common result of aging and occur frequently in older people. About one ...

Congenital adrenal hyperplasia: Case report.

OpenAIRE

Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

2013-01-01

INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

Cataract Surgery in Uveitis

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Rupesh Agrawal

2012-01-01

Full Text Available Cataract surgery in uveitic eyes is often challenging and can result in intraoperative and postoperative complications. Most uveitic patients enjoy good vision despite potentially sight-threatening complications, including cataract development. In those patients who develop cataracts, successful surgery stems from educated patient selection, careful surgical technique, and aggressive preoperative and postoperative control of inflammation. With improved understanding of the disease processes, pre- and perioperative control of inflammation, modern surgical techniques, availability of biocompatible intraocular lens material and design, surgical experience in performing complicated cataract surgeries, and efficient management of postoperative complications have led to much better outcome. Preoperative factors include proper patient selection and counseling and preoperative control of inflammation. Meticulous and careful cataract surgery in uveitic cataract is essential in optimizing the postoperative outcome. Management of postoperative complications, especially inflammation and glaucoma, earlier rather than later, has also contributed to improved outcomes. This manuscript is review of the existing literature and highlights the management pearls in tackling complicated cataract based on medline search of literature and experience of the authors.

Cataract surgery among Medicare beneficiaries.

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Schein, Oliver D; Cassard, Sandra D; Tielsch, James M; Gower, Emily W

2012-10-01

To present descriptive epidemiology of cataract surgery among Medicare recipients in the United States. Cataract surgery performed on Medicare beneficiaries in 2003 and 2004. Medicare claims data were used to identify all cataract surgery claims for procedures performed in the United States in 2003-2004. Standard assumptions were used to limit the claims to actual cataract surgery procedures performed. Summary statistics were created to determine the number of procedures performed for each outcome of interest: cataract surgery rates by age, sex, race and state; surgical volume by facility type and surgeon characteristics; time interval between first- and second-eye cataract surgery. The national cataract surgery rate for 2003-2004 was 61.8 per 1000 Medicare beneficiary person-years. The rate was significantly higher for females and for those aged 75-84 years. After adjustment for age and sex, blacks had approximately a 30% lower rate of surgery than whites. While only 5% of cataract surgeons performed more than 500 cataract surgeries annually, these surgeons performed 26% of the total cataract surgeries. Increasing surgical volume was found to be highly correlated with use of ambulatory surgical centers and reduced time interval between first- and second-eye surgery in the same patient. The epidemiology of cataract surgery in the United States Medicare population documents substantial variation in surgical rates by race, sex, age, and by certain provider characteristics.

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

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Shivanand C Bubanale

2018-01-01

Full Text Available Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze. The anterior chamber, iris, lens and fundus appeared normal. Congenital lamellar ichthyosis was suspected because of scaling and excessive dryness of the entire body. The occurrence of a spontaneous subconjunctival abscess is not known in lamellar ichthyosis. We thus report the management of a rare case of unilateral upper eyelid ectropion, subconjunctival abscess with orbital cellulitis in congenital lamellar ichthyosis.

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance : Confirmation of a syndrome

NARCIS (Netherlands)

Aalfs, CM; Oosterwijk, JC; VanSchooneveld, MJ; Begeman, CJ; Wabeke, KB; Hennekam, RCM

Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary

Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract: Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants

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Devroop Sarkar

2014-01-01

Full Text Available Connexin50 (Cx50 mutations are reported to cause congenital cataract probably through the disruption of intercellular transport in the lens. Cx50 mutants that undergo mistrafficking have generally been associated with failure to form functional gap junction channels; however, sometimes even properly trafficked mutants were found to undergo similar consequences. We hereby wanted to elucidate any structural bases of the varied functional consequences of Cx50 missense mutations through in silico approach. Computational studies have been done based on a Cx50 homology model to assess conservation, solvent accessibility, and 3-dimensional localization of mutated residues as well as mutation-induced changes in surface electrostatic potential, H-bonding, and steric clash. This was supplemented with meta-analysis of published literature on the functional properties of connexin missense mutations. Analyses revealed that the mutation-induced critical alterations of surface electrostatic potential in Cx50 mutants could determine their fate in intracellular trafficking. A similar pattern was observed in case of mutations involving corresponding conserved residues in other connexins also. Based on these results the trafficking fates of 10 uncharacterized Cx50 mutations have been predicted. Further experimental analyses are needed to validate the observed correlation.

Atomic bomb cataracts

International Nuclear Information System (INIS)

Shiraeda, Kanji

1992-01-01

Eye disturbance caused by atomic bomb radiation can be divided into three groups: direct injury immediately after exposure, eye lesions associated with radiation syndrome, and delayed disturbance. The crystalline lens of the eye is the most radiosensitive. Atomic bomb cataract has been investigated in a number of studies. The first section of this chapter discusses radiation cataract in terms of the incidence and characteristics. The second section deals with atomic bomb cataract, which can be diagnosed based on the four criteria: (1) opacity of the crystalline lens, (2) a history of proximal exposure, (3) lack of eye disease complicating cataract, and (4) non-exposure to radiation other than atomic bombing. The prevalence of cataract and severity of opacity are found to correlate with exposure doses and age at the time of exposure. Furthermore, it is found to correlate with distance from the hypocenter, the condition of shielding, epilation, and the presence or absence or degree of radiation syndrome. (N.K.)

Solar ultraviolet radiation cataract.

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Löfgren, Stefan

2017-03-01

Despite being a treatable disease, cataract is still the leading cause for blindness in the world. Solar ultraviolet radiation is epidemiologically linked to cataract development, while animal and in vitro studies prove a causal relationship. However, the pathogenetic pathways for the disease are not fully understood and there is still no perfect model for human age related cataract. This non-comprehensive overview focus on recent developments regarding effects of solar UV radiation wavebands on the lens. A smaller number of fundamental papers are also included to provide a backdrop for the overview. Future studies are expected to further clarify the cellular and subcellular mechanisms for UV radiation-induced cataract and especially the isolated or combined temporal and spatial effects of UVA and UVB in the pathogenesis of human cataract. Regardless of the cause for cataract, there is a need for advances in pharmaceutical or other treatment modalities that do not require surgical replacement of the lens. Copyright © 2016. Published by Elsevier Ltd.

A novel small deletion in the NHS gene associated with Nance-Horan syndrome

OpenAIRE

Li, Huajin; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Wu, Shijing; Sui, Ruifang

2018-01-01

Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chinese Nance-Horan syndrome pedigree and identified the genetic defect. Genetic analysis showed that 3 affected males carried a novel small deletion in NHS gene, c.263_266delCGTC (p.Ala89TrpfsTer106), a...

[Usher syndrome: about a case].

Science.gov (United States)

Daoudi, Chama; Boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

2017-01-01

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies

NARCIS (Netherlands)

Eshuis-Peters, Ellis; Versluys, Anne Brigitta; Stokman, Marijn Fijke; van der Crabben, Saskia Nanette; Nij Bijvank, Sebastiaan W A; van Wezel-Meijler, Gerda

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria,

Berardinelli-Seip congenital lipodystrophy in two siblings

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T Rao

2014-01-01

Full Text Available Berardinelli-Seip congenital lipodystrophy (BSCL is a very rare autosomal recessive disorder characterized by various dermatological and systemic manifestations such as lipoatrophy, hypertriglyceridemia, hepatomegaly, acanthosis nigricans, and acromegaloid features. BSCL type 2 is more common and severe, with onset in the neonatal period or in early infancy. The locus for BSCL2 has been identified on chromosome 11q13. Early recognition and differentiation from other congenital generalized lipodystrophies help in the initiation of appropriate preventive and therapeutic measures such as lifestyle modification and pharmacotherapy that helps postpone the onset of metabolic syndrome. We report BSCL type 2 in two siblings with several cutaneous manifestations like acanthosis nigricans, hypertrichosis, prominent subcutaneous veins, and increased lanugo hair.

Mutation analysis of GLDC, AMT and GCSH in cataract captive-bred vervet monkeys (Chlorocebus aethiops).

Science.gov (United States)

Chauke, Chesa G; Magwebu, Zandisiwe E; Sharma, Jyoti R; Arieff, Zainunisha; Seier, Jürgen V

2016-08-01

Non-ketotic hyperglycinaemia (NKH) is an autosomal recessive inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. This study describes the first screening of NKH in cataract captive-bred vervet monkeys (Chlorocebus aethiops). Glycine dehydrogenase (GLDC), aminomethyltransferase (AMT) and glycine cleavage system H protein (GCSH) were prioritized. Mutation analysis of the complete coding sequence of GLDC and AMT revealed six novel single-base substitutions, of which three were non-synonymous missense and three were silent nucleotide changes. Although deleterious effects of the three amino acid substitutions were not evaluated, one substitution of GLDC gene (S44R) could be disease-causing because of its drastic amino acid change, affecting amino acids conserved in different primate species. This study confirms the diagnosis of NKH for the first time in vervet monkeys with cataracts. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Long term ocular and neurological involvement in severe congenital toxoplasmosis.

Science.gov (United States)

Meenken, C; Assies, J; van Nieuwenhuizen, O; Holwerda-van der Maat, W G; van Schooneveld, M J; Delleman, W J; Kinds, G; Rothova, A

1995-06-01

This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% developed a cataract. Overt endocrinological disease, diagnosed in five of 15 patients, included panhypopituitarism (n = 2), gonadal failure with dwarfism (n = 1), precocious puberty with dwarfism and thyroid deficiency (n = 1), and diabetes mellitus and thyroid deficiency (n = 1). The observed endocrinological involvement was associated in all cases with obstructive hydrocephalus with a dilated third ventricle and optic nerve atrophy. The recognition of long term ocular, neurological, and endocrinological sequelae of congenital toxoplasmosis is important for medical management of these severely handicapped patients.

Ultrasonographic findings of cataract

International Nuclear Information System (INIS)

Choi, Sun Seob; Kim, Yang Soo; Lee, Kwan Seh; Kim, Kun Sang

1985-01-01

Examining the eye with high resolution ultrasonography, authors encountered 34 cases (41 eyeballs) of cataract and found out its characteristic ultrasonographic findings, though cataract is easily recognized by physician on inspection. Ultrasonographic findings of cataract were as follows; 1. Thickening of lens due to edema. 2. Demonstration of lens echo in whole circumference. 3. Multiple internal lens echo

Feminising genitoplasty: one-stage genital reconstruction in congenital adrenal hyperplasia: 30 years' experience.

Science.gov (United States)

Roll, M F; Kneppo, C; Roth, H; Bettendorf, M; Waag, K-L; Holland-Cunz, S

2006-10-01

The study objective is to evaluate the results of our surgical technique for children with congenital adrenal hyperplasia and ambiguous genitalia at the University Hospital of Heidelberg, Department of Paediatric Surgery. The records of 19 patients with congenital adrenal hyperplasia treated between 1972 and 2004 were reviewed with respect to age at surgery, operative procedures and outcome. We describe the recession clitoroplasty technique currently used in our hospital and highlight the importance of short and long-term follow-up results with respect to appearance, position and size of the clitoris and quality of the vagina. One-stage recession clitoroplasty and vaginoplasty gives very satisfactory cosmetic and functional results, with few complications and a reduced need for secondary surgical interventions. The results of this study support the assumption that total correction can be achieved through a single-stage operation, performed in infancy.

Implante intra-ocular de lentes dobráveis "piggyback" em paciente portador de catarata congênita no primeiro ano de vida: relato de caso Piggyback foldable intraocular lens implant in patient with congenital cataract in the first year of life: case report

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Leonardo Akaishi

2004-12-01

Full Text Available No presente relato os autores descrevem um caso de catarata congênita unilateral tratada cirurgicamente com implante intra-ocular de lentes dobráveis "piggyback", ainda não descrito na literatura nacional. São analisadas as diferenças e semelhanças com outros casos descritos na literatura.The authors report a case of congenital cataract, which was treated with piggyback foldable intraocular lens implant, not described in the Brazilian literature. The differences and similarities are analyzed with other reported cases in the literature.

Etiopathogenesis of cataract: An appraisal

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Varun B Gupta

2014-01-01

Full Text Available Natural eye lens is a crystalline substance to produce a clear passage for light. Cataract is opacity within the clear lens of the eye and is the dominant cause of socio-medical problem i.e., blindness worldwide. The only available treatment of cataract is surgery. However, insufficient surgical facilities in poor and developing countries and post-operative complications inspire researchers to find out other modes of treatment for cataract. In this review, an attempt has been made to appraise various etiological factors of cataract to make their perception clear to build up counterpart treatment. Present study is an assortment of various available literatures and electronic information in view of cataract etiopathogenesis. Various risk factors have been identified in development of cataracts. They can be classified in to genetic factors, ageing (systemic diseases, nutritional and trace metals deficiencies, smoking, oxidative stress etc., traumatic, complicated (inflammatory and degenerative diseases of eye, metabolic (diabetes, galactosemia etc., toxic substances including drugs abuses, alcohol etc., radiation (ultraviolet, electromagnetic waves etc. are implicated as significant risk factors in the development of cataract.

Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.

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Andley, Usha P; Goldman, Joshua W

2016-01-01

Knock-in mice provide useful models of congenital and age-related cataracts caused by α-crystallin mutations. R49C αA-crystallin and R120G αB-crystallin mutations are linked with hereditary cataracts. Knock-in αA-R49C+/- heterozygotes develop cataracts by 1-2months, whereas homozygote mice have cataracts at birth. The R49C mutation drastically reduces lens protein water solubility and causes cell death in knock-in mouse lenses. Mutant crystallin cannot function as a chaperone, which leads to protein aggregation and lens opacity. Protein aggregation disrupts the lens fiber cell structure and normal development and causes cell death in epithelial and fiber cells. We determined what aspects of the wild-type phenotype are age-dependently altered in the mutant lens. Wild-type, heterozygote (αA-R49C+/-), and homozygote (αA-R49C+/+) mouse lenses were assessed pre- and postnatally for lens morphology (electron microscopy, immunohistochemistry), and autophagy or unfolded protein response markers (immunoblotting). Morphology was altered by embryonic day 17 in R49C+/+ lenses; R49C+/- lens morphology was unaffected at this stage. Active autophagy in the lens epithelium of mutant lenses was indicated by the presence of autophagosomes using electron microscopy. Protein p62 levels, which are degraded specifically by autophagy, increased in αA-R49C mutant versus wild-type lenses, suggesting autophagy inhibition in the mutant lenses. The unfolded protein response marker XBP-1 was upregulated in adult lenses of αB-R120G+/+ mice, suggesting its role in lens opacification. Mutated crystallins alter lens morphology, autophagy, and stress responses. Therapeutic modulation of autophagic pathways may improve protein degradation in cataractous lenses and reduce lens opacity. This article is part of a Special Issue entitled Crystallin Biochemistry in Health and Disease. Copyright © 2015 Elsevier B.V. All rights reserved.

Radiological findings of congenital lipoid adrenal hyperplasia: a case report

International Nuclear Information System (INIS)

Kim, Mi Jeong; Shin, Joo Yong; Lee, Hee Jung; Lee, Jin Hee; Sohn, Cheol Ho; Lee, Sung Moon; Kim, Hong; Woo, Seong Ku; Suh, Soo Ji

2001-01-01

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder characterized by the marked accumulation of lipids and cholesterol in the adrenal cortex, and the failure of adrenal steroids to synthesise. We report the ultrasound (US), computed tomographic (CT), and magnetic resonance (MR) imaging findings in a four-day-old female neonate with CLAH

The global state of cataract blindness.

Science.gov (United States)

Lee, Cameron M; Afshari, Natalie A

2017-01-01

Cataracts are a significant cause of blindness and visual impairment worldwide. The present article reviews the literature and describes the current extent of cataracts globally, barriers to treatment, and recommendations for improving the treatment of cataracts. Prevalence and absolute number of blind because of cataracts remain high, although rates are declining in many areas globally. The age-standardized prevalence of blindness in adults older than 50 remains highest in western sub-Saharan Africa, with a rate of 6.0%. The greatest declines in age-standardized blindness because of cataracts in adults older than 50 between 1990 and 2010 were in East Asia, tropical Latin America, and western Europe. Recent studies have largely found higher rates of cataracts in women than in men. A new simulator for training ophthalmologists in manual small-incision cataract surgery holds promise for the future. The rates of cataract surgery are increasing and postoperative outcomes are improving worldwide, yet challenges to reducing the cataract burden further remain. Cost, an insufficient number of ophthalmologists, and low government funding remain significant barriers but investment in further eye care infrastructure and training of additional ophthalmologists would improve the current situation.

Photorefractive keratectomy after cataract surgery in uncommon cases: long-term results

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Anna Maria Roszkowska

2018-04-01

Full Text Available AIM: To evaluate the efficacy and safety of the excimer laser correction of the residual refractive errors after cataract extraction with intraocular lens (IOL implantation in uncommon cases. METHODS: Totally 24 patients with high residual refractive error after cataract surgery with IOL implantation were examined. Twenty-two patients had a history of phacoemulsification and IOL implantation, and two had extra-capsular cataract extraction with IOL implantation. Detailed examination of preoperative medical records was done to explain the origin of the post-cataract refractive errors. All patients underwent photorefractire keratectomy (PRK enhancement. The mean outcome measures were refraction, uncorretted visual acuity (UCVA, best corrected visual acuity (BCVA and corneal transparency and follow up ranged from 1 to 8y. RESULTS: The principal causes of residual ametropia was inexact IOL calculation in abnormal eyes with high myopia and congenital lens abnormalities, followed by corneal astigmatism both suture induced and preexisting. After cataract surgery and before the laser enhancement the mean spherical equivalent (SE was -0.56±3 D ranging from -4.62 to +2.25 D in high myopic patients, instead it was -1±1.73 D ranging from -3.25 to +3.75 D in the astigmatic eyes, with a mean cylinder of -3.75±0 ranging from -3 to +5.50 D. After laser refractive surgery the mean SE was 0.1±0.73, ranging from -0.50 to +1.50 in the myopic group, and it was -0.50±0.57 ranging from -1.25 to +0.50 in astigmatic patients, with a mean cylinder of -0.25±0.75. In myopic patients the mean UCVA and BCVA were 0.038±0.072 logMAR and 0.018±0.04 respectively, both ranging from 0.10 to 0.0. In astigmatic patients, the mean UCVA and BCVA were 0.213±0.132 and 0.00±0.0 respectively, UCVA ranging from 0.50 to 0.22 and BCVA was 0.00. All patients presented normal corneal transparency. No ocular hypertension was detected and no corneal haze was observed. All registered

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

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Shotland Lawrence I

2004-09-01

Full Text Available Abstract Background Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10. TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449 of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.

Combined surgery versus cataract surgery alone for eyes with cataract and glaucoma.

Science.gov (United States)

Zhang, Mingjuan Lisa; Hirunyachote, Phenpan; Jampel, Henry

2015-07-14

Cataract and glaucoma are leading causes of blindness worldwide, and their co-existence is common in elderly people. Glaucoma surgery can accelerate cataract progression, and performing both surgeries may increase the rate of postoperative complications and compromise the success of either surgery. However, cataract surgery may independently lower intraocular pressure (IOP), which may allow for greater IOP control among patients with co-existing cataract and glaucoma. The decision between undergoing combined glaucoma and cataract surgery versus cataract surgery alone is complex. Therefore, it is important to compare the effectiveness of these two interventions to aid clinicians and patients in choosing the better treatment approach. To assess the relative effectiveness and safety of combined surgery versus cataract surgery (phacoemulsification) alone for co-existing cataract and glaucoma. The secondary objectives include cost analyses for different surgical techniques for co-existing cataract and glaucoma. We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (2014, Issue 10), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to October 2014), EMBASE (January 1980 to October 2014), PubMed (January 1948 to October 2014), Latin American and Caribbean Health Sciences Literature Database (LILACS) (January 1982 to October 2014), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov), and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 3 October 2014.We checked the reference lists of the included trials to identify further relevant trials. We used the Science Citation Index to search for references to

Comparison of Pre-operative Central Corneal Thickness in Pediatric Cataract Cases versus Normal

International Nuclear Information System (INIS)

Khan, S.; Ali, M.; Zaheer, N.

2014-01-01

Objective: To compare the pre-operative central corneal thickness (CCT) in paediatric cataract patients with reference to normal control group. Study Design: A case control study. Place and Duration of Study: Paediatric Ophthalmology Clinic of Al-Shifa Trust Eye Hospital (ASTEH), Rawalpindi, from November 2009 to May 2010. Methodology: The study included 116 subjects with equal number of cases and controls. Demographic profile of all the subjects was noted followed by history and detailed ophthalmic examination. CCT was measured using an ultrasonic pachymeter (model Pac Scan 300). The mean of three measurements from the central cornea were recorded in microns. Results were analyzed using SPSS version 17.0. Results: Mean CCT values of the cases was 566.83 +- 37.646 microns while the control group had a mean CCT of 535.81 +- 24.466 microns. Difference between the CCT values of the two groups was highly significant (p < 0.001). Conclusion: Eyes with congenital cataracts have greater CCT values as compared to normal paediatric population. This factor must be kept in mind while interpreting intra-ocular pressure in such patients. (author)

Congenital generalized lipodystrophia: a case report; Lipodistrofia generalizada congenita: relato de um caso

Energy Technology Data Exchange (ETDEWEB)

Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V. [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

1995-01-01

Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs.

Cataract-free interval and severity of cataract after total body irradiation and bone marrow transplantation: influence of treatment parameters

International Nuclear Information System (INIS)

Kempen-Harteveld, M. Loes van; Struikmans, Henk; Kal, Henk B.; Tweel, Ingeborg van der; Mourits, Maarten; Verdonck, Leo F.; Schipper, Jan; Battermann, Jan J.

2000-01-01

Purpose: To determine prospectively the cataract-free interval (latency time) after total body irradiation (TBI) and bone marrow transplantation (BMT) and to assess accurately the final severity of the cataract. Methods and Materials: Ninety-three of the patients who received TBI as a part of their conditioning regimen for BMT between 1982 and 1995 were followed with respect to cataract formation. Included were only patients who had a follow-up period of at least 23 months. TBI was applied in one fraction of 8 Gy or two fractions of 5 or 6 Gy. Cataract-free period was assessed and in 56 patients, who could be followed until stabilization of the cataract had occurred, final severity of the cataract was determined using a classification system. With respect to final severity, two groups were analyzed: subclinical low-grade cataract and high-grade cataract. Cataract-free period and final severity were determined with respect to type of transplantation, TBI dose, and posttransplant variables such as graft versus host disease (GVHD) and steroid treatment. Results: Cataract incidence of the analyzed patients was 89%. Median time to develop a cataract was 58 months for autologous transplanted patients. For allogeneic transplanted patients treated or not treated with steroids, median times were 33 and 46 months, respectively. Final severity was not significantly different for autologous or allogeneic patients. In allogeneic patients, however, final severity was significantly different for patients who had or had not been treated with steroids for GVHD: 93% versus 35% high-grade cataract, respectively. Final severity was also different for patients receiving 1 x 8 or 2 x 5 Gy TBI, from patients receiving 2 x 6 Gy as conditioning therapy: 33% versus 79% high-grade cataract, respectively. The group of patients receiving 2 x 6 Gy comprised, however, more patients with steroid treatment for GVHD. So the high percentage of high-grade cataract in the 2 x 6 Gy group might also

The global burden of cataract.

Science.gov (United States)

Rao, Gullapalli N; Khanna, Rohit; Payal, Abhishek

2011-01-01

To review the previous year's literature related to prevalence of blindness in general, blindness due to cataract, cataract surgical coverage (CSC) and cataract surgical rates (CSRs). Cataracts are the major cause of blindness and visual impairment in developing countries and contributes to more than 90% of the total disability adjusted life years. This review shows that coverage continues to be a problem in many countries, especially for the female population, those residing in rural areas and those who are illiterate. Although CSR is an indicator of the availability and acceptability of services, for measuring the impact of the program, we should look at combining CSR with CSC. This strategy would also enable us achieve our goal of eliminating avoidable blindness due to cataracts by the year 2020. Cataracts still continue- to be a major cause of blindness globally and with the rapidly aging population, it is a challenge to tackle. We need to plan a comprehensive strategy addressing issues related to availability, affordability, accessibility and acceptability of eye-care services.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

NARCIS (Netherlands)

Timal, Sharita; Hoischen, Alexander; Lehle, Ludwig; Adamowicz, Maciej; Huijben, Karin; Sykut-Cegielska, Jolanta; Paprocka, Justyna; Jamroz, Ewa; van Spronsen, Francjan J.; Koerner, Christian; Gilissen, Christian; Rodenburg, Richard J.; Eidhof, Ilse; Van den Heuvel, Lambert; Thiel, Christian; Wevers, Ron A.; Morava, Eva; Veltman, Joris; Lefeber, Dirk J.

2012-01-01

Congenital disorders of glycosylation type I (CDG-I) form a growing group of recessive neurometabolic diseases. Identification of disease genes is compromised by the enormous heterogeneity in clinical symptoms and the large number of potential genes involved. Until now, gene identification included

Acute traumatic cataracts

International Nuclear Information System (INIS)

Titelbaum, D.S.; Grossman, R.I.; Lloyd, W.C.; Cohen, E.J.; Atlas, S.W.

1989-01-01

This paper reports orbital CT scans of 15 patients with clinically diagnoses traumatic cataracts retrospectively reviewed to determine the presence of radiographically detectable lens abnormalities. Definite lens swelling was clinically observed in a lease five cases. Eleven patients, scanned 4 hours of 3 days after injury, revealed visible and measured decreased CT density of the cataractous lens compared with the normal contralateral lens (average mean difference, 28 HU), suggesting acute lens swelling. In one patient, lens morphologic changes but not HU differences were found, probably due to superimposed hemorrhage. Three patients, scanned 3-8 hours after injury, revealed no detectable lens abnormality. The findings suggest that CT is potentially capable of identifying traumatic cataracts

Advances in hard nucleus cataract surgery

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Wei Cui

2013-11-01

Full Text Available Security and perfect vision and fewer complications are our goals in cataract surgery, and hard-nucleus cataract surgery is always a difficulty one. Many new studies indicate that micro-incision phacoemulsification in treating hard nucleus cataract is obviously effective. This article reviews the evolution process of hard nuclear cataract surgery, the new progress in the research of artificial intraocular lens for microincision, and analyse advantages and disadvantages of various surgical methods.

Paediatric cataract: challenges and complications

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Dr P Vijayalakshmi

2016-10-01

Full Text Available Amblyopia should always be anticipated in children with unilateral cataract, asymmetrical bilateral cataracts (or where there is a delay between the first and second eye operation, or a delay of more than a year between diagnosis/ detection and surgery, cataracts with anisometropia or traumatic cataracts with corneal scars. When amblyopia is detected, occlusion therapy (eye patching must be instituted at the earliest opportunity. The patching regimen is the same with any strabismic amblyopia and sometimes needs to be aggressive at the start. It is crucial to explain the need for patching to the parents, since compliance is the greatest obstacle to the success of amblyopia treatment.

Long-Term Results of Cataract Surgery in Patients with Unilateral Childhood Cataract

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Suzan Güven Yılmaz

2012-03-01

Full Text Available Pur po se: To evaluate the long-term visual outcome and to determine the surgical complications after cataract surgery in patients with unilateral childhood cataract. Ma te ri al and Met hod: We retrospectively reviewed the records of 18 cases with unilateral childhood cataract who had undergone cataract surgery before the age of seven. Primary intraocular lens (IOL implantation was made in children who were older than 1 year of age. Secondary IOL implantation was made after 18 months in children who were operated before the age of 1 year and were left aphakic. Occlusion therapy was performed to all children for amblyopia postoperatively. Visual acuity and complications were evaluated in a mean follow-up period of 4.8 years. Re sults: The mean age of the 18 patients (9 female/9 male at the time of surgery was 43.6±33.7(1-84 months. Eleven (61% patients had cataract surgery after 1 year of age. Secondary IOL implantation was performed at mean 28th month in 4 of 7 aphakic patients (57% who had cataract surgery before one year of age. In 3 (43% aphakic patients, secondary IOL implantation could not be performed because of ocular pathologies such as microophthalmia. Final visual acuity was 0.5 or better in 7 eyes (39%, between 0.1 and 0.5 in 6 eyes (33%, and worse than 0.1 - in 5 eyes (28%. Of 5 eyes that had visual acuity worse than 0.1, 4 (80% had at least one additional ocular pathology such as microphthalmia, strabismus and nystagmus. Nd:YAG laser posterior capsulotomy was performed at mean 8th month in 7 of 8 (87% children whose posterior capsules were left intact at surgery. Dis cus si on: Favorable visual outcomes can be achieved with surgical intervention and complementary amblyopia treatment in children with unilateral cataract. Preoperative microphthalmia, nystagmus and strabismus are not entirely an obstacle to visual development, but they are important factors leading to low visual acuity. (Turk J Ophthalmol 2012; 42: 103-10

Glaucoma-related adverse events in the first five years after unilateral cataract removal in the Infant Aphakia Treatment Study

Science.gov (United States)

Freedman, Sharon F.; Lynn, Michael J.; Beck, Allen D.; Bothun, Erick D.; Orge, Faruk H.; Lambert, Scott R.

2015-01-01

Importance Glaucoma-related adverse events constitute major sight-threatening complications of cataract removal in infancy, yet their relationship to aphakia versus primary intraocular lens (IOL) implantation remains unsettled. Objective To identify and characterize cases of glaucoma and glaucoma-related adverse events (glaucoma+glaucoma suspect) among children in the Infant Aphakia Treatment Study (IATS) by the age of five years. Design, Setting, and Participants A multicenter randomized controlled trial of 114 infants with unilateral congenital cataract who were between age 1–6 months at surgery. Interventions Participants were randomized at cataract surgery to either primary IOL, or no IOL implantation (contact lens [CL]). Standardized definitions of glaucoma and glaucoma suspect were created for IATS and applied for surveillance and diagnosis. Main Outcome Measures Development of glaucoma and glaucoma+glaucoma suspect in operated eyes up to age five years, plus intraocular pressure, visual acuity, and axial length at age five years. Results Product limit estimates of the risk of glaucoma and glaucoma+glaucoma suspect at 4.8 years after surgery were 17% (95%CI=11%–25%) and 31% (95%CI=24%–41%), respectively. The CL and IOL groups were not significantly different for either outcome: glaucoma (hazard ratio(HR)=0.8[95%CI=0.3–2.0],p=0.62); glaucoma+glaucoma suspect: (HR=1.3[95%CI=0.6–2.5],p=0.58). Younger (versus older) age at surgery conferred increased risk of glaucoma (26% versus 9%, respectively at 4.8 years after surgery (HR=3.2[95%CI=1.2–8.3]), and smaller (versus larger) corneal diameter showed increased risk for glaucoma+glaucoma suspect (HR=2.5[95%CI=1.3–5.0]). Age and corneal diameter were significantly positively correlated. Glaucoma was predominantly open angle (19/20 cases, 95%), most eyes received medication (19/20, 95%), and 8/20 (40%) eyes had surgery. Conclusions and Relevance These results suggest that glaucoma-related adverse events

Imaging findings in congenital hepatic fibrosis

International Nuclear Information System (INIS)

Akhan, Okan; Karaosmanoglu, Ali Devrim; Ergen, Bilge

2007-01-01

Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue

Imaging findings in congenital hepatic fibrosis

Energy Technology Data Exchange (ETDEWEB)

Akhan, Okan [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)]. E-mail: akhano@tr.net; Karaosmanoglu, Ali Devrim [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey); Ergen, Bilge [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)

2007-01-15

Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue.

Nonclassic Congenital Adrenal Hyperplasia

Directory of Open Access Journals (Sweden)

Selma Feldman Witchel

2010-01-01

Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

"Ant-egg" cataract revisited

DEFF Research Database (Denmark)

Clemmensen, Kåre; Enghild, Jan J; Ivarsen, Anders

2017-01-01

-ray scans and electron microscopy. The purpose of this study was to further characterize "ant-egg" cataract using modern technology and display the history of the "ant-eggs" after cataract extraction. METHODS: "Ant-eggs" were examined using Heidelberg SPECTRALIS Optical Coherence Tomography (OCT...

Congenital neutropenia: diagnosis, molecular bases and patient management

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Chantelot Christine

2011-05-01

Full Text Available Abstract The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe ( When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia and congenital forms that may either be isolated or part of a complex genetic disease. Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant. About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency and glycogen storage disease type Ib (associated with a glycogen storage syndrome. So far, the molecular bases of 12 neutropenic disorders have been identified. Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF. G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

Cerebral gigantism (Sotos' syndrome) and cataracts.

Science.gov (United States)

Yeh, H; Price, R L; Lonsdale, D

1978-01-01

A five-year-old girl with cerebral gigantism (Sotos' syndrome) and cataracts is described. Sotos' syndrome, characterized by generalized gigantism with normal endocrine studies has rarely been reported with ocular abnormalities and never with cataracts. It is important to study any child with cataracts for systemic disease.

IOL Implants: Lens Replacement and Cataract Surgery (Intraocular Lenses)

Science.gov (United States)

... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

A case report of congenital sensory neuropathy with anhidrosis

International Nuclear Information System (INIS)

Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong

1974-01-01

Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint

A case report of congenital sensory neuropathy with anhidrosis

Energy Technology Data Exchange (ETDEWEB)

Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1974-10-15

Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population

NARCIS (Netherlands)

Corton, M.; Avila-Fernandez, A.; Vallespin, E.; Lopez-Molina, M.I.; Almoguera, B.; Martin-Garrido, E.; Tatu, S.D.; Khan, M.I.; Blanco-Kelly, F.; Riveiro-Alvarez, R.; Brion, M.; Garcia-Sandoval, B.; Cremers, F.P.M.; Carracedo, A.; Ayuso, C.

2014-01-01

OBJECTIVE: We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: A cohort of 217 unrelated Spanish families affected by autosomal recessive or

Viscoless microincision cataract surgery

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Guy Sallet

2008-06-01

Full Text Available Guy SalletDepartment of Opthamology, Aalsters Stedelijk Ziekenhuis, BelgiumAbstract: A cataract surgery technique is described in which incisions, continuous circular capsulorhexis and hydrodissection are made without the use of any viscoelastics. Two small incisions are created through which the different parts of the procedure can take place, maintaining a stable anterior chamber under continuous irrigation. Subsequent bimanual phacoemulsification can be done through these microincisions. At the end of the procedure, an intraocular lens can be inserted through the self-sealing incision under continuous irrigation. 50 consecutive cataract patients were operated on without the use of viscoelastics and then compared with a group of 50 patients who had been helped with viscoelastics. No difference in outcome, endothelial cell count or pachymetry was noted between the two groups. No intraoperative complication was encountered. Viscoless cataract surgery was a safe procedure with potential advantages.Keywords: ophthalmic visco-surgical device, viscoless cataract surgery, microincision

Uptake of cataract surgery in Sava Region, Madagascar: role of cataract case finders in acceptance of cataract surgery.

Science.gov (United States)

Razafinimpanana, Narivony; Nkumbe, Henry; Courtright, Paul; Lewallen, Susan

2012-04-01

The number of people coming for cataract surgery in Madagascar remains low and most ophthalmologists could do many more surgeries than currently done. Knowing why people identified with cataract do not accept surgery will help to design programs that use existing resources more effectively. The study was carried out in Sava Region of Madagascar. People with blinding (acceptance were proximity to hospital (people from Sambava district were twice as likely to present as people from more distant districts) and perceived price of transport and food (being higher for people not accepting). The actual price of surgery was not the main barrier to acceptance of surgery; instead it appears that distance to the hospital and the willingness to pay are important predictors. Strategies to improve uptake need to be revised in order to ensure that people have access to and use cataract surgical services.

Cost-effectiveness analysis of cataract surgery with intraocular lens implantation: extracapsular cataract extraction versus phacoemulsification

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Mohd R.A. Manaf

2007-03-01

Full Text Available A randomized single blinded clinical trial to compare the cost-effectiveness of cataract surgery between extracapsular cataract extraction (ECCE and phacoemulsification (PEA was conducted at Hospital Universiti Kebangsaan Malaysia (HUKM from March 2000 until August 2001. The cost of a cataract surgery incurred by hospital, patients and households were calculated preoperatively, one week, two months (for both techniques and six months (for ECCE only. Effectiveness of cataract surgery was assessed using Visual Function 14 (VF-14, quality of life measurement specifically for vision. The cost analysis results from each 50 subjects of ECCE and PEA group showed that average cost for one ECCE after six months post-operation is USD 458 (± USD 72 and for PEA is USD 528 (± USD 125. VF-14 score showed a significant increased after a week, two months and six months post-operation compared to the score before operation for both techniques (p<0.001. However, there was no significant difference between them (p = 0.225. This study indicated that ECCE is more cost effective compared to PEA with cost per one unit increment of VF-14 score of USD 14 compared to USD 20 for PEA. (Med J Indones 2007; 16:25-31 Keywords: cataract, cost-effectiveness, extracapsular cataract extraction, phacoemulsification, visual function 14

Serum 25-hydroxyvitamin D and Age-Related Cataract.

Science.gov (United States)

Park, Sangshin; Choi, Nam-Kyong

2017-10-01

Cataract and insufficient vitamin D intake are both increasing worldwide concerns, yet little is known about the relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and age-related cataract. We performed this study to determine the association between serum 25(OH)D levels and age-related cataract in adults. Study participants comprised 16,086 adults aged 40 years or older who had never been diagnosed with or undergone surgery for cataract using Korean National Health and Nutrition Examination Survey data from 2008 to 2012. Participants were assessed to have cataract when diagnosed with cortical, nuclear, anterior subcapsular, posterior subcapsular, or mixed cataract. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the magnitude and significance of the association between serum 25(OH)D levels and cataract in multivariable logistic regression models. The OR for nuclear cataract with the highest quintile of serum 25(OH)D levels was 0.86 (95% CI 0.75-0.99) compared to the lowest quintile. A linear trend across quintiles was significant. Natural log-transformed serum 25(OH)D levels were also significantly associated with nuclear cataract (OR 0.84, 95% CI 0.75-0.95). The opulation-attributable fraction of nuclear cataract due to serum 25(OH)D insufficiency (D levels were inversely associated with the risk of nuclear cataract. Prospective studies investigating the effects of serum 25(OH)D levels on the development of nuclear cataract are needed to confirm our findings.

First and second eye cataract surgery and driver self-regulation among older drivers with bilateral cataract: a prospective cohort study.

Science.gov (United States)

Agramunt, Seraina; Meuleners, Lynn B; Fraser, Michelle L; Chow, Kyle C; Ng, Jonathon Q; Raja, Vignesh

2018-02-17

Driving a car is the most common form of transport among the older population. Common medical conditions such as cataract, increase with age and impact on the ability to drive. To compensate for visual decline, some cataract patients may self-regulate their driving while waiting for cataract surgery. However, little is known about the self-regulation practices of older drivers throughout the cataract surgery process. The aim of this study is to assess the impact of first and second eye cataract surgery on driver self-regulation practices, and to determine which objective measures of vision are associated with driver self-regulation. Fifty-five older drivers with bilateral cataract aged 55+ years were assessed using the self-reported Driving Habits Questionnaire, the Mini-Mental State Examination and three objective visual measures in the month before cataract surgery, at least one to three months after first eye cataract surgery and at least one month after second eye cataract surgery. Participants' natural driving behaviour in four driving situations was also examined for one week using an in-vehicle monitoring device. Two separate Generalised Estimating Equation logistic models were undertaken to assess the impact of first and second eye cataract surgery on driver-self-regulation status and which changes in visual measures were associated with driver self-regulation status. The odds of being a self-regulator in at least one driving situation significantly decreased by 70% after first eye cataract surgery (OR: 0.3, 95% CI: 0.1-0.7) and by 90% after second eye surgery (OR: 0.1, 95% CI: 0.1-0.4), compared to before first eye surgery. Improvement in contrast sensitivity after cataract surgery was significantly associated with decreased odds of self-regulation (OR: 0.02, 95% CI: 0.01-0.4). The findings provide a strong rationale for providing timely first and second eye cataract surgery for older drivers with bilateral cataract, in order to improve their mobility and

Cataract incidence after total-body irradiation

International Nuclear Information System (INIS)

Zierhut, D.; Lohr, F.; Schraube, P.; Huber, P.; Haas, R.; Hunstein, W.; Wannenmacher, M.

1997-01-01

Purpose: Aim of this retrospective study was to evaluate cataract incidence in a homogeneous group of patients after total-body irradiation followed by autologous bone marrow transplantation or peripheral blood stem cell transplantation. Method and Materials: Between 11/1982 and 6/1994 in total 260 patients received in our hospital total-body irradiation for treatment of haematological malignancy. In 1996-96 patients out of these 260 patients were still alive. 85 from these still living patients (52 men, 33 women) answered evaluable on a questionnaire and could be examined ophthalmologically. Median age of these patients was 38,5 years (15 - 59 years) at time of total-body irradiation. Radiotherapy was applied as hyperfractionated total-body irradiation with a median dose of 14,4 Gy in 12 fractions over 4 days. Minimum time between fractions was 4 hours, photons with a energy of 23 MeV were used, and the dose rate was 7 - 18 cGy/min. Results: Median follow-up is now 5,8 years (1,7 - 13 years). Cataract occurred in (28(85)) patients after a median time of 47 months (1 - 104 months). In 6 out of these 28 patients who developed a cataract, surgery of the cataract was performed. Whole-brain irradiation prior to total-body irradiation was more often in the group of patients developing a cataract (14,3%) vs. 10,7% in the group of patients without cataract. Conclusion: Cataract is a common side effect of total-body irradiation. Cataract incidence found in our patients is comparable to results of other centres using a fractionated regimen for total-body irradiation. The hyperfractionated regimen used in our hospital does obviously not result in a even lower cataract incidence. In contrast to acute and late toxicity in other organ/organsystems, hyperfractionation of total-body irradiation does not further reduce toxicity for the eye-lens. Dose rate may have more influence on cataract incidence

Measuring aniseikonia using scattering filters to simulate cataract

Science.gov (United States)

Wilson, Jason

2011-12-01

The relationship between anisometropia and aniseikonia (ANK) is not well understood. Ametropic cataract patients provide a unique opportunity to study this relationship after undergoing emmetropizing lens extraction. Because light scatter may affect ANK measurement in cataract patients, its effect should also be evaluated. The Basic Aniseikonia Test (BAT) was evaluated using afocal size lenses to produce specific changes in retinal height. Several light scattering devices were then evaluated to determine which produced effects most similar to cataract. Contrast sensitivity and visual acuity (VA) losses were measured with each device and compared to those reported in cataract. After determining the most appropriate light scattering device, twenty healthy patients with normal visual function were recruited to perform the BAT using the filters to simulate cataract. Cataract patients were recruited from Vision America and the University of Alabama at Birmingham School of Optometry. Patients between 20 and 75 years of age with at least 20/80 VA in each eye, ≥ 2D ametropia, and normal binocular function were recruited. Stereopsis and ANK were tested and each patient completed a symptom questionnaire. ANK measurements using afocal size lenses indicated that the BAT underestimates ANK, although the effect was minimal for vertical targets and darkened surroundings, as previously reported. Based on VA and contrast sensitivity loss, Vistech scattering filters produced changes most similar to cataract. Results of the BAT using Vistech filters demonstrated that a moderate cataract but not a mild cataract may affect the ANK measurement. ANK measurements on cataract patients indicated that those with ≥ 2 D ametropia in each eye may suffer from induced ANK after the first cataract extraction. With upcoming healthcare reform, unilateral cataract extraction may be covered, but not necessarily bilateral, depending on patient VA in each eye. However, a questionnaire about symptoms

A COMPARATIVE STUDY OF THE AMOUNT OF ASTIGMATISM FOLLOWING CONVENTIONAL EXTRACAPSULAR CATARACT EXTRACTION AND MANUAL SMALL INCISION CATARACT SURGERY

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Rajkumari Bigyabati

2016-06-01

Full Text Available BACKGROUND Cataract is the principal cause of avoidable blindness in India and throughout the world. Surgical removal of the cataractous lens remains the only effective treatment for management of cataract blindness. The success of cataract surgery is determined by best and earliest visual recovery. But the occurrence of postoperative astigmatism has become a major hurdle in achieving this goal. AIMS The study was designed to compare the amount of astigmatism following conventional extracapsular cataract extraction (ECCE and manual small incision cataract surgery (SICS. MATERIALS AND METHODS The study was carried out in 100 eyes of 75 patients aged between 50 and 80 years admitted for cataract surgery. Out of these, 50 eyes were operated by conventional extracapsular cataract extraction and 50 eyes by manual small incision cataract surgery. The patients were followed up at 2 nd , 4 th , 6 th and 8 th weeks. At each follow-up visual acuity, refraction and acceptance and keratometry were recorded and the findings analysed for astigmatism. RESULTS In the current study, the mean (SD astigmatism developed at the end of the 2 nd , 4 th and 6 th of follow-up was significantly lower in the SICS group as compared to the ECCE group (P<0.000. At the end of 8 weeks of follow-up, the mean (SD astigmatism of the SICS group was 0.64±0.56 D as compared to the mean (SD of the ECCE group of 1.39±86 D and the difference was found to be significant (p<0.014. CONCLUSION The current study concludes that manual small incision cataract surgery is a better technique to control postoperative astigmatism than conventional extracapsular cataract extraction.

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

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Jacoba J Louw

2018-01-01

Full Text Available Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal congenital restrictive cardiomyopathy affecting the right ventricle. We hypothesized a novel autosomal recessive condition. To identify the cause, we performed genetic, in vitro and in vivo studies. Genome-wide SNP typing and parametric linkage analysis was done in a recessive model to identify candidate regions. Exome sequencing analysis was done in unaffected and affected siblings. In the linkage regions, we selected candidate genes that harbor two rare variants with predicted functional effects in the patients and for which the unaffected sibling is either heterozygous or homozygous reference. We identified two compound heterozygous variants in KIF20A; a maternal missense variant (c.544C>T: p.R182W and a paternal frameshift mutation (c.1905delT: p.S635Tfs*15. Functional studies confirmed that the R182W mutation creates an ATPase defective form of KIF20A which is not able to support efficient transport of Aurora B as part of the chromosomal passenger complex. Due to this, Aurora B remains trapped on chromatin in dividing cells and fails to translocate to the spindle midzone during cytokinesis. Translational blocking of KIF20A in a zebrafish model resulted in a cardiomyopathy phenotype. We identified a novel autosomal recessive congenital restrictive cardiomyopathy, caused by a near complete loss-of-function of KIF20A. This finding further illustrates the relationship of cytokinesis and congenital cardiomyopathy.

Evaluation of diopter after cataract surgery in high myopia combined cataract

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Wan-Qi Zhang

2015-02-01

Full Text Available AIM: To observe the diopter after cataract surgery for vision gain in high myopia and its effect on visual outcomes. METHODS: Sixty(120 eyeshigh myopia combined with cataract cases received phacoemulsification and intraocular lens implantation in our hospital were retrospective studied. The patients were divided into three groups based on postoperative diopter: -1.0～-2.0D(group A, -2.25～-3.0D(group Band -3.25～-4.0D(group C. The uncorrected distance visual acuity(UCDVA, best corrected distant visual acuity(BCDVA, uncorrected near visual acuity(UCNVAand questionnaire of Activities of Daily Vision Scale(ADVSwere collected to assess the vision gain at 3mo after cataract surgery. RESULTS: At 3mo after surgery, UCDVA of group A was better than that of group B, and UCDVA of group B was better than that of group C. There were no differences in BCDVA among groups. There were significant differences between the three groups' UCNVA, it was best for the group C, followed by the group B, group A was the worst. For questionnaire, no difference was observed in patients' satisfactory for surgical results, but a significant difference was detected in postoperative glasses wearing frequency between groups. CONCLUSION:For cataract surgery in high myopia combined cataract, postoperative diopter should be calculated based on patients' daily requirements. For patients had not used to wearing glasses and near distant working condition, it's appropriated to reserve a minor degree of myopia. Conversely, for patients require near distant working and received wearing moderate and low hyperopia mirror, higher degree of myopia can be reserved.

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene

DEFF Research Database (Denmark)

Thomsen, Bo; Nissen, Peter H.; Agerholm, Jørgen S

2010-01-01

 Bovine spinal dysmyelination (BSD) is a recessive congenital neurodegenerative disease in cattle (Bos taurus) characterized by pathological changes of the myelin sheaths in the spinal cord. The occurrence of BSD is a longstanding problem in the American Brown Swiss (ABS) breed and in several...

Elevated Frequency of Cataracts in Birds from Chernobyl

Science.gov (United States)

Mousseau, Timothy Alexander; Møller, Anders Pape

2013-01-01

Background Radiation cataracts develop as a consequence of the effects of ionizing radiation on the development of the lens of the eye with an opaque lens reducing or eliminating the ability to see. Therefore, we would expect cataracts to be associated with reduced fitness in free-living animals. Methodology/Principal Findings We investigated the incidence of lens opacities typical of cataracts in more than 1100 free-living birds in the Chernobyl region in relation to background radiation. The incidence of cataracts increased with level of background radiation both in analyses based on a dichotomous score and in analyses of continuous scores of intensity of cataracts. The odds ratio per unit change in the regressor was 0.722 (95% CI 0.648, 0.804), which was less than odds ratios from investigations of radiation cataracts in humans. The relatively small odds ratio may be due to increased mortality in birds with cataracts. We found a stronger negative relationship between bird abundance and background radiation when the frequency of cataracts was higher, but also a direct effect of radiation on abundance, suggesting that radiation indirectly affects abundance negatively through an increase in the frequency of cataracts in bird populations, but also through direct effects of radiation on other diseases, food abundance and interactions with other species. There was no increase in incidence of cataracts with increasing age, suggesting that yearlings and older individuals were similarly affected as is typical of radiation cataract. Conclusions/Significance These findings suggest that cataracts are an under-estimated cause of morbidity in free-living birds and, by inference, other vertebrates in areas contaminated with radioactive materials. PMID:23935827

Elevated frequency of cataracts in birds from chernobyl.

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Timothy Alexander Mousseau

Full Text Available BACKGROUND: Radiation cataracts develop as a consequence of the effects of ionizing radiation on the development of the lens of the eye with an opaque lens reducing or eliminating the ability to see. Therefore, we would expect cataracts to be associated with reduced fitness in free-living animals. METHODOLOGY/PRINCIPAL FINDINGS: We investigated the incidence of lens opacities typical of cataracts in more than 1100 free-living birds in the Chernobyl region in relation to background radiation. The incidence of cataracts increased with level of background radiation both in analyses based on a dichotomous score and in analyses of continuous scores of intensity of cataracts. The odds ratio per unit change in the regressor was 0.722 (95% CI 0.648, 0.804, which was less than odds ratios from investigations of radiation cataracts in humans. The relatively small odds ratio may be due to increased mortality in birds with cataracts. We found a stronger negative relationship between bird abundance and background radiation when the frequency of cataracts was higher, but also a direct effect of radiation on abundance, suggesting that radiation indirectly affects abundance negatively through an increase in the frequency of cataracts in bird populations, but also through direct effects of radiation on other diseases, food abundance and interactions with other species. There was no increase in incidence of cataracts with increasing age, suggesting that yearlings and older individuals were similarly affected as is typical of radiation cataract. CONCLUSIONS/SIGNIFICANCE: These findings suggest that cataracts are an under-estimated cause of morbidity in free-living birds and, by inference, other vertebrates in areas contaminated with radioactive materials.

Recessive omodysplasia: five new cases and review of the literature

International Nuclear Information System (INIS)

Elcioglu, Nursel H.; Gustavson, Karl H.; Wilkie, Andrew O.M.; Yueksel-Apak, Memune; Spranger, Juergen W.

2004-01-01

Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far. The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age. Five new patients, including two sibs, with autosomal recessive omodysplasia are presented. Clinical features are rhizomelic dwarfism with limited extension of elbows and knees and a distinct face with a short nose, depressed nasal bridge, long philtrum, midline haemangiomas in infants and cryptorchidism in males. Radiological findings are distal hypoplasia of the short humerus and femur with characteristic radial dislocation and radioulnar diastasis. Based on a review of these and 16 previously reported patients, the regressive nature of the humerofemoral changes and the obvious male predominance are stressed. Phenotypic similarities with the atelosteogenesis group of disorders and with diastrophic dysplasia suggest common pathogenetic mechanisms. (orig.)

Risk factors which cause senile cataract evolvement: outline

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E.V. Bragin

2018-03-01

Full Text Available Examination of natural ageing processes including those caused by multiple external factors has been attracting re-searchers' attention over the last years. Senile cataract is a multi-factor disease. Expenditure on cataract surgery remain one of the greatest expenses items in public health care. Age is a basic factor which causes senile cataract. Morbidity with cataract doubles each 10 years of life. This outline considers some literature sources which describe research results on influence exerted on cataract evolvement by such risk factors as age, sex, race, smoking, alcohol intake, pancreatic diabetes, intake of certain medications, a number of environmental factors including ultraviolet and ionizing radiation. mane of these factors are shown to increase or reduce senile cataract risk; there are conflicting data on certain factors. The outline also contains quantitative characteristics of cataract risks which are given via odds relation and evolve due to age parameters impacts, alcohol intake, ionizing radiation, etc. The authors also state that still there is no answer to the question whether dose-effect relationship for cataract evolvement is a threshold or non-threshold.

Radiation and cataract

International Nuclear Information System (INIS)

Rehani, M. M.; Vano, E.; Ciraj-Bjelac, O.; Kleiman, N. J.

2011-01-01

When this paper was about to go to press, the International Commission on Radiological Protection released a statement recommending a change in the threshold dose for the eye lens and dose limits for eye for occupationally exposed persons. It is clear that the earlier published threshold for radiation cataract is no longer valid. Epidemiological studies among Chernobyl clean-up workers, A bomb survivors, astronauts, residents of contaminated buildings, radiological technicians and recent surveys of staff in interventional rooms indicate that there is an increased incidence of lens opacities at doses below 1 Gy. Nevertheless, eye lens dosimetry is at a primitive stage and needs to be developed further. Despite uncertainties concerning dose threshold and dosimetry, it is possible to significantly reduce the risk of radiation cataract through the use of appropriate eye protection. By increasing awareness among those at risk and better adoption and increased usage of protective measures, radiation cataract can become preventable despite lowering of dose limits. (authors)

The Great Recession: a comparison of recession magnitudes in Europe, USA and Japan

OpenAIRE

Mazurek, Jiří

2013-01-01

In this article recession magnitudes in Europe, the USA and Japan during the Great Recession are compared. The strongest recessions (of severe category) occurred in Latvia, Lithuania and Estonia, while recessions in Japan and the USA were significantly weaker. Even the strongest recession (in Latvia) was found smaller in its magnitude than the Great Depression 1929-1933 in the USA. Hence, comparisons of the Great Recession to the Great Depression in the literature are somewhat exaggerated.

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Energy Technology Data Exchange (ETDEWEB)

Turkbey, Baris; Choyke, Peter L. [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); Ocak, Iclal [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); Daryanani, Kailash [National Institutes of Health, Clinical Center, Department of Radiology, Bethesda, MD (United States); Font-Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Tuchman, Maya; Gahl, William A. [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); Mohan, Parvathi [George Washington University, Department of Pediatric Gastroenterology, Washington, DC (United States); Heller, Theo [National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD (United States); Gunay-Aygun, Meral [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); National Institutes of Health, Intramural Program, Office of Rare Diseases, Office of the Directors, Bethesda, MD (United States)

2009-02-15

ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF has a broad spectrum of clinical presentations involving the kidney and liver. Imaging plays an important role in the diagnosis and follow-up of ARPKD/CHF. Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHF patients allows detailed definition of the extent of kidney and hepatobiliary manifestations without requiring ionizing radiation and contrast agents. (orig.)

Time-specific blockade of PDGFR with Imatinib (Glivec®) causes cataract and disruption of lens fiber cells in neonatal mice.

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Zhou, Yin-Pin; He, Yang-Tao; Chen, Cheng-Li; Ji, Jun; Niu, Jian-Qin; Wang, Han-Zhi; Li, Shi-Feng; Huang, Lan; Mei, Feng

2011-03-01

This study aimed at investigating the response of lens epithelial cells in postnatal mice to Imatinib (Glivec®, a potent inhibitor of platelet-derived growth factor receptor (PDGFR)) treatment. Mouse eyes were sampled 10 days after administration of Imatinib (0.5 mg·g(-1)·day(-1)) for 3 days, at either 7, 14, or 21 days postpartum. Structural changes of lens were revealed by routine H.E. staining. Levels of proliferation and apoptosis were revealed by BrdU incorporation and terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay, respectively, and immunofluorescent staining with anti-PDGFRα antibody was carried out on the sections of eyeball. PDGFRα and p-PDGFRαprotein levels were evaluated by Western blot. Our results indicated that administration of Imatinib led to blockade of PDGFR signaling. Formation of cataracts was found only in those mice where treatment started from 7 days postpartum (P7), but was not observed in those samples from P14 nor P21. Fiber cells were disorganized in cataract lens core as observed histologically, and migration of epithelial cells was also inhibited. No apoptosis was detected with the TUNEL method. Our results indicated blockade of PDGFR at the neonatal stage (P7) would lead to cataracts and lens fiber cells disorganization, suggesting that PDGFR signaling plays a time-specific and crucial role in the postnatal development of lens in the mouse, and also may provide a new approach to produce a congenital cataract animal model.

The Effect of Cataract Surgery on Circadian Photoentrainment

DEFF Research Database (Denmark)

Brøndsted, Adam Elias; Sander, Birgit; Haargaard, Birgitte

2015-01-01

of cataract surgery on circadian photoentrainment and to determine any difference between blue-blocking and neutral intraocular lenses (IOLs). DESIGN: The study was a single-center, investigator-driven, double-masked, block-randomized clinical trial. PARTICIPANTS: One eye in 76 patients with bilateral age......PURPOSE: Cataract decreases blue light transmission. Because of the selective blue light sensitivity of the retinal ganglion cells governing circadian photoentrainment, cataract may interfere with normal sleep-wake regulation and cause sleep disturbances. The purpose was to investigate the effect......-related cataract eligible for cataract surgery was included. METHODS: Intervention was cataract surgery by phacoemulsification. Patients were randomized to receive a blue-blocking or neutral IOL. MAIN OUTCOME MEASURES: Primary outcome was activation of intrinsic photosensitive ganglion cells using post...

Forecasting US Recessions

DEFF Research Database (Denmark)

Christiansen, Charlotte; Eriksen, Jonas Nygaard; Møller, Stig Vinther

2014-01-01

We study the role of sentiment variables as predictors for US recessions. We combine sentiment variables with either classical recession predictors or common factors based on a large panel of macroeconomic and financial variables. Sentiment variables hold vast predictive power for US recessions...

Have we stopped looking for a red reflex in newborn screening?

LENUS (Irish Health Repository)

Sotomi, O

2012-02-03

Best medical evidence indicates that surgical treatment of significant congenital cataracts is required within the first 3 months of life for optimal visual outcome. The aim of the present study was to review when the diagnosis of congenital cataracts was made in our region, by whom it was made, and the visual outcome at 2 years of age or more. This was a retrospective study in a region with a population of 546,000 and approximately 8500 births per annum, served by a single Regional Ophthalmology centre. All children under 15 years, diagnosed with Congenital Cataract over a 10-year period (1991-2002), were identified using the Hospital In-Patient Enquiry [HIPE] database. Children with cataract(s) from infancy from a congenital cause and those first presenting outside infancy but with salient clinical features indicating early cataract were included in the study. 27 cases of congenital and infantile cataract 15 (56%) males, 12 (44%) females were retrieved. 17 infants (63%) were diagnosed with bilateral disease, while the remainder were unilateral 10 (37%). Most of the cases 17 (63%) were diagnosed following presentation with parental\\/carer concerns about visual function (usually a squint). However only 2 of these 17 cases presented before 3 months of age. The remaining cases of congenital cataracts were diagnosed by general practitioners 8 (24%), paediatricians 4 (12%), ophthalmologists 3 (9%) or School Medical Officer (1, 3%). No case of congenital cataract was diagnosed by newborn screening examination. Six of 8 infants diagnosed with congenital cataracts before three months of age had a good visual outcome, (visual acuity < 6\\/24 at 2 years or more). In contrast only 3 of 19 cases who were diagnosed after 3 months of age had good visual outcomes. Despite their relative rarity, it is imperative that congenital cataracts are diagnosed and treated within 3 months of birth. The onus of diagnosis rests with newborn screening examiners at birth and with general

Carbon footprint and cost-effectiveness of cataract surgery.

Science.gov (United States)

Venkatesh, Rengaraj; van Landingham, Suzanne W; Khodifad, Ashish M; Haripriya, Aravind; Thiel, Cassandra L; Ramulu, Pradeep; Robin, Alan L

2016-01-01

This article raises awareness about the cost-effectiveness and carbon footprint of various cataract surgery techniques, comparing their relative carbon emissions and expenses: manual small-incision cataract surgery (MSICS), phacoemulsification, and femtosecond laser-assisted cataract surgery. As the most commonly performed surgical procedure worldwide, cataract surgery contributes significantly to global climate change. The carbon footprint of a single phacoemulsification cataract surgery is estimated to be comparable to that of a typical person's life for 1 week. Phacoemulsification has been estimated to be between 1.4 and 4.7 times more expensive than MSICS; however, given the lower degree of postoperative astigmatism and other potential complications, phacoemulsification may still be preferable to MSICS in relatively resource-rich settings requiring high levels of visual function. Limited data are currently available regarding the environmental and financial impact of femtosecond laser-assisted cataract surgery; however, in its current form, it appears to be the least cost-effective option. Cataract surgery has a high value to patients. The relative environmental impact and cost of different types of cataract surgery should be considered as this treatment becomes even more broadly available globally and as new technologies are developed and implemented.

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

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Arghyaprasun Ghosh

2017-01-01

Full Text Available Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India. Aims and Objectives: The aim is to evaluate the epidemiology and clinical characteristics of various types of congenital ichthyoses. Materials and Methods: The study was conducted for 1 year from April 2013 to March 2014. Patients were evaluated for epidemiological profile and clinical features. Results: During the study of 1 year, 106 patients of congenital ichthyoses were identified. The most common of the various ichthyoses was ichthyosis vulgaris, followed by lamellar ichthyosis, X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified. Conclusion: Various types of congenital ichthyoses present with different clinical features which range from mild to severe. These present with significant psychological stress to both patients and their families. Furthermore, all these diseases have significant implications of transmission to their offspring.

The carbon footprint of cataract surgery.

Science.gov (United States)

Morris, D S; Wright, T; Somner, J E A; Connor, A

2013-04-01

Climate change is predicted to be one of the largest global health threats of the 21st century. Health care itself is a large contributor to carbon emissions. Determining the carbon footprint of specific health care activities such as cataract surgery allows the assessment of associated emissions and identifies opportunities for reduction. To assess the carbon footprint of a cataract pathway in a British teaching hospital. This was a component analysis study for one patient having first eye cataract surgery in the University Hospital of Wales, Cardiff. Activity data was collected from three sectors, building and energy use, travel and procurement. Published emissions factors were applied to this data to provide figures in carbon dioxide equivalents (CO2eq). The carbon footprint for one cataract operation was 181.8 kg CO2eq. On the basis that 2230 patients were treated for cataracts during 2011 in Cardiff, this has an associated carbon footprint of 405.4 tonnes CO2eq. Building and energy use was estimated to account for 36.1% of overall emissions, travel 10.1% and procurement 53.8%, with medical equipment accounting for the most emissions at 32.6%. This is the first published carbon footprint of cataract surgery and acts as a benchmark for other studies as well as identifying areas for emissions reduction. Within the procurement sector, dialogue with industry is important to reduce the overall carbon footprint. Sustainability should be considered when cataract pathways are designed as there is potential for reduction in all sectors with the possible side effects of saving costs and improving patient care.

TUG1 promotes lens epithelial cell apoptosis by regulating miR-421/caspase-3 axis in age-related cataract.

Science.gov (United States)

Li, Guoxing; Song, Huiyang; Chen, Lei; Yang, Weihua; Nan, Kaihui; Lu, Peirong

2017-07-01

Age-related cataract is among the most common chronic disorders of ageing and the apoptosis of lens epithelial cells contributes to non-congenital cataract development. We amid to explore the role of TUG1 and miR-421 in the age-related cataract. The expression level of TUG1, miR-421 and caspase-3 were detected by RT-qPCR. The apoptotic-related protein, caspase-3, Bax and blc-2 were analyzed by western blot. We performed ultraviolet (UV) irradiation to induce SAR01/04 cell apoptosis which was analyzed by flow cytometry. RIP pull-down and luciferase reporter assay were used to verified the combination and regulating among TUG1, miR-421 and caspase-3. Here, we observed that the expression level of TUG1 and caspase-3 in the anterior lens capsules of age-related cataract were significantly higher and miR-421 was significantly lower than that in the normal anterior lens capsules. The apoptosis-related protein, caspase-3, Bax and blc-2 were abnormal expression in the anterior lens capsules of age-related cataract tissue. Our data showed that the expression level of TUG1 and caspase-3 and cell apoptosis rate in SAR01/04 cells treated with UV irradiation was remarkably higher than that in the control. TUG1 negatively regulated miR-421 expression and promoted UV irradiation-induced SAR01/04 cell apoptosis. However, miR-421 inhibitor and pcDNA-caspase-3 could reverse the action of the SRA01/04 cell apoptosis by si-TUG1, which suggested TUG1 promoted UV irradiation-induced apoptosis through downregulating miR-421 expression. Furthermore, this study confirmed TUG1 could been in combination with miR-421, and TUG1 and caspase-3 were both a directly target of miR-421. TUG1 modulated lens epithelial cell apoptosis through miR-421/caspase-3 axis. These findings will offer a novel insight into the pathogenesis of cataract. Copyright © 2017 Elsevier Inc. All rights reserved.

Childhood Cataract: Magnitude, Management, Economics and Impact

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BR Shamanna

2004-01-01

Full Text Available The prevalence of blindness among children in different regions varies from 0.2/1000 children to over 1.5/1000 children with a global figure estimated at 0.7/1000. This means that there are an estimated 1.4 million blind children worldwide.1 The proportion of blindness in children due to cataract varies considerably between regions from 10%-30% with a global average estimated at 14%, giving 190,000 children blind from cataract. 2 While the magnitude of childhood cataracts varies from place to place, it is a priority within all blindness control programmes for children. Children who are blind have to overcome a lifetime of emotional, social and economic difficulties which affect the child, the family and society.3 Loss of vision in children influences their education, employment and social life. The numbers blind with cataract do not reflect the years of disability and lost quality of life. Childhood blindness is second only to adult cataract as a cause of blind-person years. Approximately 70 million blind-person years are caused by childhood blindness of which about 10 million blind-person years (14% is due to childhood cataract. Timely recognition and intervention can eliminate blind-years due to childhood cataract, as the condition is treatable.

Small-incision cataract extraction combined trabeculectomy for primary angle-closure glaucoma with cataract

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Yu-Feng Wu

2014-09-01

Full Text Available AIM: To observe the curative effect of treating small-incision cataract extraction by intraocular lens implantation combined with trabeculectomy for primary angle-closure glaucoma with cataract. METHODS: Totally 44 cases(52 eyesof primary angle-closure glaucoma combined with cataract were selected to undergo the combined surgery, in order to observe the patients' pre- and postoperative eyesights, intraocular pressures and the postoperative complications.RESULTS: The postoperative eyesight was improved significantly as compared with the preoperative eyesight. The intraocular pressure was declined dramatically. The result was of statistical significance(P0.05. All the 52 cases' surgeries were performed by the same surgeon. The surgeries were processed smoothly, with 6 postoperative eyes of anterior chamber inflammation cell response, 3 eyes of anterior chamber fibrinoid exudate, 2 eyes of shallow anterior chamber through mydriasis and treatment with glucocorticoids and non-steroidal eyedrops before absorption, and no complications like malignant glaucoma, cyclodialysis, etc. were reported through mydriasis and pressure bandaging before recovery.CONCLUSION: Treating the primary angle-closure glaucoma combined with cataract through the combined surgery has high reliability and desirable curative effect. The surgical method is simple to learn and applicable for promotion on the basic level.

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Science.gov (United States)

Van Esch, Hilde; Jansen, Anna; Bauters, Marijke; Froyen, Guy; Fryns, Jean-Pierre

2007-02-15

We describe a male patient with a deletion at Xp22, detected by high resolution X-array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. This is the first description of a male patient with a deletion of these genes, showing the involvement of CDKL5 in severe epileptic encephalopathy in males. Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases. (c) 2007 Wiley-Liss, Inc.

Implante de lente intraocular en niños como solución a los problemas sociales de la ceguera por catarata congénita Intraocular lens implants for children as a solution to social problems caused by blindness from congenital cataract

Directory of Open Access Journals (Sweden)

Rosa María Naranjo Fernández

2011-12-01

congenital cataract ranges from 1 to 4 per 10 000 children in underdeveloped countries and 0,1 to 0,4 in industrialized countries. In Cuba, 2,1 million inhabitants are under 15 years of age and the congenital cataract is regarded as the second cause of infantile blindness. In the last 20 years, the surgical treatment of cataract in children has completely changed based on the remarkable improvement of the surgical techniques. In our country, the pediatric cataract surgery with intraocular lens implantation began in 1990 after the inauguration of the Ocular Microsurgery Center in 1988. The importance of this pediatric cataract surgery with intraocular lens implants was shown as a solution to the social problems caused by the visual deficit of inadequately treated patients, since the application of modern technology improves the quality of life of children both at social and educational level, and allows fully re-inserting them into the society.

Improving diagnosis for congenital cataract by introducing NGS genetic testing.

Science.gov (United States)

Musleh, Mohammud; Ashworth, Jane; Black, Graeme; Hall, Georgina

2016-01-01

Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequencing (NGS) has been shown to be effective in providing an underlying diagnosis in 70% of patients with CC in a research setting. This project aimed to integrate NGS testing in CC within six months of presentation and increase the rate of diagnosis. A retrospective case note review was undertaken to define the baseline efficacy of current care in providing a precise diagnosis. Quality improvement methods were used to integrate and optimize NGS testing in clinical care and measure the improvements made. The percentage of children receiving an NGS result within six months increased from 26% to 71% during the project period. The mean time to NGS testing and receiving a report decreased and there was a reduction in variation over the study period. Several patients and families had a change in management or genetic counselling as a direct result of the diagnosis given by the NGS test. The current recommended investigation of patients with bilateral CC is ineffective in identifying a diagnosis. Quality Improvement methods have facilitated successful integration of NGS testing into clinical care, improving time to diagnosis and leading to development of a new care pathway.

Mortality after endophthalmitis following contemporary phacoemulsification cataract surgery.

Science.gov (United States)

Crosby, Niall; Polkinghorne, Philip J; Kim, Bia; McGhee, Charles; Welch, Sarah; Riley, Andrew

2018-04-24

To determine if endophthalmitis following cataract surgery is linked to increased mortality. Increased mortality has been linked to patients with cataract and cataract surgery. We tested the hypothesis that post-cataract endophthalmitis has a greater risk of death than pseudophakes who do not develop this complication. Case-control study conducted in a tertiary public hospital. The study group comprised 50 consecutive patients with post-cataract endophthalmitis, and these were matched with selected controls. Patients with endophthalmitis following cataract surgery were identified from a prospective electronic surgical database. Subsequently, it was determined if the patient was deceased at the time of sequestration (September 2015), and the date of death was recorded. A previously described population who had undergone cataract surgery in the same facility was selected as a control group, and the population was case-matched in terms age, gender, presence or absence of diabetes and/or hypertension. The median survival rates were determined for the control group and the patients with post-cataract endophthalmitis. Fifty patients were identified as undergoing endophthalmitis post-cataract surgery, and 48 (n = 48) met inclusion criteria (mean age 72 years ±12 SD with 30:18 F:M); 17% were diabetic, and 50% had systemic hypertension. No statistically significant difference in median survival between the study and control cases was identified (100 months (95% confidence interval 86-114) vs. 106 months (95% confidence interval 66-146), respectively, P = 0.756). Post-cataract endophthalmitis was not associated with an increased rate of mortality in this study. © 2018 Royal Australian and New Zealand College of Ophthalmologists.

Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

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Susan Sommerlad

2010-10-01

Full Text Available Congenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD. This deafness is evident in young pups and may affect one ear (unilateral or both ears (bilateral. The genetic locus/loci involved is unknown for all dog breeds. The aims of this study were to determine incidence, inheritance mechanism, and possible association of congenital sensorineural deafness with coat colour in ASCD and to identify the genetic locus underpinning this disease.A total of 315 ASCD were tested for sensorineural deafness using the brain stem auditory evoked response (BAER test. Disease penetrance was estimated directly, using the ratio of unilaterally to bilaterally deaf dogs, and segregation analysis was performed using Mendel. A complete genome screen was undertaken using 325 microsatellites spread throughout the genome, on a pedigree of 50 BAER tested ASCD in which deafness was segregating. Fifty-six dogs (17.8% were deaf, with 17 bilaterally and 39 unilaterally deaf. Unilaterally deaf dogs showed no significant left/right bias (p = 0.19 and no significant difference was observed in frequencies between the sexes (p = 0.18. Penetrance of deafness was estimated as 0.72. Testing the association of red/blue coat colour and deafness without accounting for pedigree structure showed that red dogs were 1.8 times more likely to be deaf (p = 0.045. The within family association between red/blue coat colour and deafness was strongly significant (p = 0.00036, with red coat colour segregating more frequently with deafness (COR = 0.48. The relationship between deafness and coat speckling approached significance (p = 0.07, with the lack of statistical significance possibly due to only four families co-segregating for both deafness and speckling. The deafness phenotype was mapped to CFA10 (maximum linkage peak on CFA10 -log10 p-value = 3.64, as was both coat colour and

Risk of Retinal Detachment After Pediatric Cataract Surgery

DEFF Research Database (Denmark)

Haargaard, Birgitte; Andersen, Elisabeth W; Oudin, Anna

2014-01-01

PURPOSE: To determine the long-term risk of retinal detachment following pediatric cataract surgery and to identify risk factors for retinal detachment. METHODS: We included all children (aged 0 to 17 years) who during the time period of 1977 to 2005 underwent pediatric cataract surgery in Denmark...... was based on medical chart review. RESULTS: Among 1043 eyes of 656 children undergoing surgery for pediatric cataract, 25 eyes (23 children) developed retinal detachment at a median time of 9.1 years after surgery. The overall 20-year risk of retinal detachment was 7% (95% confidence interval [CI]: 3...... (16% [95% CI: 6%-24%]). CONCLUSIONS: The estimated overall risk of retinal detachment 20 years after pediatric cataract surgery was 7%, but only 3% for isolated cataract. Particularly high risks of retinal detachment after cataract surgery were associated with mental retardation and having other...

Visual function of cataract with high myopia

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Jian-Tao Ren

2013-09-01

Full Text Available Cataract with high myopia is research priority associated with the large amount of high myopia patients. The unaided visual acuity and the best-corrected visual acuity are partial for the visual acuity of the patients with cataract. The mechanism and clinical significance of modern visual function measurements associated with cataract and high myopia, including accommodation and convergence, stereoscopic vision, contrast sensitivity, have been introduced. These measurements could be of great value in early diagnosis of cataract, assessment of surgical indication, customized intraocular lens(IOLselection and evaluation of visual performance after IOL implantation. They could also be helpful to the analysis of postoperative impaired visual function and its management. Having an adequate understanding of the contents and significance of visual function was helpful to the improvement of cataract surgery techniques and postoperative visual acuity.

Congenital Amegakaryocytic Thrombocytopenic Purpura (CAMT)

International Nuclear Information System (INIS)

Ghauri, R. I.; Naveed, M.; Mannan, J.

2014-01-01

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL) despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone. (author)

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

NARCIS (Netherlands)

Iqbal, Z.; Shahzad, M.; Vissers, L.E.L.M.; Scherpenzeel, M. van; Gilissen, C.; Razzaq, A.; Zahoor, M.Y.; Khan, S.N.; Kleefstra, T.; Veltman, J.A.; Brouwer, A.P.M. de; Lefeber, D.J.; Bokhoven, H. van; Riazuddin, S.

2013-01-01

Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17

Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India

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Surekha Bangal

2012-12-01

Full Text Available AbstractGyrate atrophy is a rare metabolic disease with autosomal recessive inheritance pattern characterised by hyperornithinemia and typical ocular findings. This report presents a 17-year-old intellectually challenged girl consulting for a progressive fall of visual acuity with night blindness. Fundus examination showed patches of chorioretinal atrophy with typical scalloped borders and peri vascular pigmentation in the equatorial region. Fundus fluroscein angiography revealed characteristic staining pattern. Other ocular associations included myopia and posterior sub capsular cataract. Progressive systemic proximal myopathy was one of the associated features. Dietary supplementation of vitamin B6 was advised.

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

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Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

Cataract surgery practices in the United States Veterans Health Administration.

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Havnaer, Annika G; Greenberg, Paul B; Cockerham, Glenn C; Clark, Melissa A; Chomsky, Amy

2017-04-01

To describe current cataract surgery practices within the United States Veterans Health Administration (VHA). Veterans Health Administration hospitals in the U.S. Retrospective data analysis. An initial e-mail containing a link to an anonymous 32-question survey of cataract surgery practices was sent to participants in May 2016. Two reminder e-mails were sent to nonresponders 1 week and 2 weeks after the initial survey was sent; the remaining nonresponders were called twice over a 2-week period. The data were analyzed using descriptive statistics. The response rate was 75% (67/89). Cataract surgeons routinely ordered preoperative testing in 29 (45%) of 65 sections and preoperative consultations in 26 (39%) of 66 sections. In 22 (33%) of 66 sections, cataract surgeons administered intracameral antibiotics. In 61 (92%) of 66 sections, cataract surgeons used toric intraocular lenses (IOLs). In 20 (30%) of 66 sections, cataract surgeons used multifocal IOLs. Cataract surgeons in 6 (9%) of 66 sections performed femtosecond laser-assisted cataract surgery. In 6 (9%) of 66 sections, cataract surgeons performed immediate sequential bilateral cataract surgery. Forty-nine (74%) ophthalmology chiefs reported a high level of satisfaction with Veterans Affairs ophthalmology. The survey results indicate that in cataract surgery in the VHA, routine preoperative testing is commonly performed and emerging practices, such as femtosecond laser-assisted cataract surgery and immediate sequential bilateral cataract surgery, have limited roles. The results of this survey could benchmark future trends in U.S. cataract surgery practices, especially in teaching hospital settings. Copyright © 2017 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Blindness and cataract surgical services in Atsinanana region, Madagascar.

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Randrianaivo, Jean-Baptiste; Anholt, R Michele; Tendrisoa, Diarimirindra Lazaharivony; Margiano, Nestor Jean; Courtright, Paul; Lewallen, Susan

2014-01-01

To assess the prevalence and causes of avoidable blindness in Atsinanana Region, Madagascar, with the Rapid Assessment of Avoidable Blindness (RAAB) survey. We analyzed the hospital records to supplement the findings for public health care planning. Only villages within a two-hour walk from a road, about half of the population of Atsinanana was included. Seventy-two villages were selected by population-proportional-to-size sampling. In each village, compact segment sampling was used to select 50 people over age 50 for eye examination using standard RAAB methods. Records at the two hospitals providing cataract surgery in the region were analyzed for information on patients who underwent cataract surgery in 2010. Cataract incidence rate and target cataract surgery rate (CSR) was modeled from age-specific prevalence of cataract. The participation rate was 87% and the sample prevalence of blindness was 1.96%. Cataract was responsible for 64% and 85.7% of blindness and severe visual impairment, respectively. Visual impairment was due to cataract (69.4%) and refractive error (14.1%). There was a strong positive correlation between cataract surgical rate by district and the proportion of people living within 2 hours of a road. There were marked differences in the profiles of the cataract patients at the two facilities. The estimated incidence of cataract at the 6/18 level was 2.4 eyes per 100 people over age 50 per year. Although the survey included only people with reasonable access, the main cause of visual impairment was still cataract. The incidence of cataract is such that it ought to be possible to eliminate it as a cause of visual impairment, but changes in service delivery at hospitals and strategies to improve access will be necessary for this change.

Influence factors of visual quality after phacoemulsification for cataract

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Zhen-Lin Lin

2017-12-01

Full Text Available Cataract refers to the degenerative changes in lens quality caused by various causes of reduced transparency or color change. Surgical treatment is the main treatment modality at present. Among them, phacoemulsification has become the main surgical treatment for cataract because of its advantages such as short operation time, small incision and quicker healing. Today, cataract surgery has gradually shift to refractive surgery, and is no longer simply as cataract surgery. But after cataract phacoemulsification, the symptoms and visual quality are different. The main causes include refractive error, postoperative dry eyes and postoperative corneal astigmatism. This article reviews the factors that influence the visual quality of cataract phacoemulsification and its future trends.

Evaluation of the macula prior to cataract surgery.

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McKeague, Marta; Sharma, Priya; Ho, Allen C

2018-01-01

To describe recent evidence regarding methods of evaluation of retinal structure and function prior to cataract surgery. Studies in patients with cataract but no clinically detectable retinal disease have shown that routine use of optical coherence tomography (OCT) prior to cataract surgery can detect subtle macular disease, which may alter the course of treatment or lead to modification of consent. The routine use of OCT has been especially useful in patients being considered for advanced-technology intraocular lenses (IOLs) as subtle macular disease can be a contraindication to the use of these lenses. The cost-effectiveness of routine use of OCT prior to cataract surgery has not been studied. Other technologies that assess retinal function rather than structure, such as microperimetry and electroretinogram (ERG) need further study to determine whether they can predict retinal potential in cataract patients. There is growing evidence for the importance of more detailed retinal evaluation of cataract patients even with clinically normal exam. OCT has been the most established and studied method for retinal evaluation in cataract patients, but other technologies such as microperimetry and ERG are beginning to be studied.

Cataract removal

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... placed into the eye to restore the focusing power of the old lens (cataract). It helps improve ... tests by the ophthalmologist. The doctor will use ultrasound or a laser scanning device to measure your ...

Sutureless Cataract Surgery: Principles and Steps

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John Sandford-Smith

2003-01-01

Full Text Available Introduction. Cataracts cause about 50% of world blindness. There is little likelihood of effective prevention becoming available in the next few years and so the only treatment will remain surgical. For many of the other major causes of world blindness, like trachoma, xerophthalmia and onchocerciasis, the remedy is community-based, not hospital-based, and requires prevention rather than treatment. The prevalence of blinding cataract will only increase as people live longer, so cataract will continue to be, by far, the most important treatable cause of blindness.

Acid phosphatase and lipid peroxidation in human cataractous lens epithelium

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Vasavada Abhay

1993-01-01

Full Text Available The anterior lens epithelial cells undergo a variety of degenerative and proliferative changes during cataract formation. Acid phosphatase is primarily responsible for tissue regeneration and tissue repair. The lipid hydroperoxides that are obtained by lipid peroxidation of polysaturated or unsaturated fatty acids bring about deterioration of biological membranes at cellular and tissue levels. Acid phosphatase and lipid peroxidation activities were studied on the lens epithelial cells of nuclear cataract, posterior subcapsular cataract, mature cataract, and mixed cataract. Of these, mature cataractous lens epithelium showed maximum activity for acid phosphatase (516.83 moles of p-nitrophenol released/g lens epithelium and maximum levels of lipid peroxidation (86.29 O.D./min/g lens epithelium. In contrast, mixed cataractous lens epithelium showed minimum activity of acid phosphatase (222.61 moles of p-nitrophenol released/g lens epithelium and minimum levels of lipid peroxidation (54.23 O.D./min/g lens epithelium. From our study, we correlated the maximum activity of acid phosphatase in mature cataractous lens epithelium with the increased areas of superimposed cells associated with the formation of mature cataract. Likewise, the maximum levels of lipid peroxidation in mature cataractous lens epithelium was correlated with increased permeability of the plasma membrane. Conversely, the minimum levels of lipid peroxidation in mixed cataractous lens epithelium makes us presume that factors other than lipid peroxidation may also account for the formation of mixed type of cataract.

Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia.

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Setty, Bhuvana A; Yeager, Nicholas D; Bajwa, Rajinder P

2011-09-01

Severe congenital neutropenia is an autosomal recessive disorder characterized by maturation arrest at the promyelocyte/myelocyte phase in the bone marrow, absolute neutrophil count ELA-2 have been described. We report the case of a premature male infant with congenital neutropenia, associated with multiple infections, refractory to treatment with granulocyte colony stimulating factor who subsequently underwent matched sibling donor stem-cell transplant. He was found to be heterozygous for the M1V variant of the ELA-2 gene that we postulate to be causative for his severe neutropenia Copyright © 2011 Wiley-Liss, Inc.

Radiation-induced cataract

International Nuclear Information System (INIS)

Martignoni, K.

1986-01-01

Dose assessments for cataract threshold doses are available based on epidemiological studies of radiotherapy patients, survivors of the nuclear bombing of Hiroshima and Nagasaki, and of persons with occupational exposure to radiation. According to these, short-term application of low-level LET radiation of a dose ranging between 0.5 and 2.0 Gy may suffice to cause a cataract in the course of a few months or years which results in inpairment of vision (UNSCEAR, 1982). In fractionated irradiation, cataractogenic threshold dose increases to 4 Sv at treatment times between 3 weeks and 3 months, and to more than 5 Sv at more than 3 months (ICRP 41). Densely ionizing radiation must be assumed to have threshold doses between 2 and 20 Sv. An ICRP assessment (ICRP Publ. No. 41, 1984) gives a threshold dose of more than 8 Sv for a vision-impairing cataract if these was protracted irradiation at a low-level dose rate. Concerning radiation protection, a maximum lens dose of 150 mSv per annum was recommended which should not be exceeded. This indicates a maximum of 7.5 Sv of exposure throughout a period of 50 years of working life. (orig./HP) [de

The Effect of Cataract on Eye Movement Perimetry

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G. Thepass

2015-01-01

Full Text Available Purpose. To determine how different grades of cataract affect sensitivity threshold and saccadic reaction time (SRT in eye movement perimetry (EMP. Methods. In EMP, the visual field is tested by assessing the saccades that a subject makes towards peripheral stimuli using an eye tracker. Forty-eight cataract patients underwent pre- and postoperative EMP examination in both eyes. The subjects had to fix a central stimulus presented on the eye tracker monitor and to look at any detected peripheral stimulus upon its appearance. A multilevel mixed model was used to determine the factors that affected the sensitivity threshold and the SRT as a function of cataract grade. Results. We found no effect of cataract severity (LOCS III grades I through IV on SRT and the sensitivity thresholds. In cataract of LOCS III grade V, however, we found an increase by 27% and 21% (p<0.001, respectively, compared to the SRT and the sensitivity threshold in LOCS III grade I. Eyes that underwent cataract surgery showed no change in mean SRTs and sensitivity thresholds after surgery in LOCS III grade IV and lower. Conclusion. The present study shows that EMP can be readily used in patients with cataract with LOCS III grade IV and below.

Recent advances in femtosecond laser-assisted cataract surgery

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Zhao-Jie Chu

2013-07-01

Full Text Available Perfect vision and fewer complications is our goal in cataract surgery, femtosecond laser-assisted cataract surgery hold the promise. Applications of femtosecond laser technology for capsulotomy, nuclear fragmentation and corneal incision in cataract surgery bring a new level of accuracy, reproducibility and predictability over the current cataract surgery. The femtosecond laser produces capsulotomies that are more precise, accurate, reproducible, and stronger than those created with the conventional manual technique, and further helps maintain proper positioning of the IOL. Femtosecond laser in nuclear fragmentation lead to a lower effective phacoemulsification time, and the corneal incision is more stable. But currently there are some complications and a clear learning curve associated with the use of femtosecond lasers for cataract surgery. The long-term safety and visual outcomes still need further investigation.

Simultaneous bilateral cataract surgery: economic analysis; Helsinki Simultaneous Bilateral Cataract Surgery Study Report 2.

Science.gov (United States)

Leivo, Tiina; Sarikkola, Anna-Ulrika; Uusitalo, Risto J; Hellstedt, Timo; Ess, Sirje-Linda; Kivelä, Tero

2011-06-01

To present an economic-analysis comparison of simultaneous and sequential bilateral cataract surgery. Helsinki University Eye Hospital, Helsinki, Finland. Economic analysis. Effects were estimated from data in a study in which patients were randomized to have bilateral cataract surgery on the same day (study group) or sequentially (control group). The main clinical outcomes were corrected distance visual acuity, refraction, complications, Visual Function Index-7 (VF-7) scores, and patient-rated satisfaction with vision. Health-care costs of surgeries and preoperative and postoperative visits were estimated, including the cost of staff, equipment, material, floor space, overhead, and complications. The data were obtained from staff measurements, questionnaires, internal hospital records, and accountancy. Non-health-care costs of travel, home care, and time were estimated based on questionnaires from a random subset of patients. The main economic outcome measures were cost per VF-7 score unit change and cost per patient in simultaneous versus sequential surgery. The study comprised 520 patients (241 patients included non-health-care and time cost analyses). Surgical outcomes and patient satisfaction were similar in both groups. Simultaneous cataract surgery saved 449 Euros (€) per patient in health-care costs and €739 when travel and paid home-care costs were included. The savings added up to €849 per patient when the cost of lost working time was included. Compared with sequential bilateral cataract surgery, simultaneous bilateral cataract surgery provided comparable clinical outcomes with substantial savings in health-care and non-health-care-related costs. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Cataract Surgery in Anterior Megalophthalmos: A Review

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GALVIS, Virgilio; TELLO, Alejandro; M. RANGEL, Carlos

2015-01-01

Anterior megalophthalmos is characterized by megalocornea associated with a very broad anterior chamber and ciliary ring elongation. It is also called X-linked megalocornea. It is accompanied by early development of cataracts, zonular anomalies, and, rarely, vitreoretinal disorders. Subluxation of a cataract can occur in cataract surgery because of zonular weakness. In addition, in most patients, standard intraocular lens (IOL) decentration is a risk because of the enlarged sulcus and capsular bag. These unique circumstances make cataract surgery challenging. To date, several approaches have been developed. Implantation of a retropupillary iris-claw aphakic intraocular lens may be a good option because it is easier than suturing the IOL and can have better and more stable anatomic and visual outcomes, compared to other techniques. PMID:27350950

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

Science.gov (United States)

Neri, G; Martini-Neri, M E; Katz, B E; Opitz, J M

1984-09-01

We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

Laser-assisted cataract surgery: benefits and barriers.

Science.gov (United States)

Hatch, Kathryn M; Talamo, Jonathan H

2014-01-01

The use of the femtosecond laser (FSL) in cataract surgery may represent the largest advancement in the field since the inception of phacoemulsification. The goal of this review is to outline the benefits of and barriers to this technology. There are several significant potential benefits of the FSL in cataract surgery over conventional manual cataract surgery: precise capsulotomy formation, clear corneal and limbal relaxing incision construction, lens fragmentation, and lens softening. Evidence suggests that refractive benefits include more precise effective lens position as well as reduced effective phacoemulsification time with the use of FSL compared with manual surgery. Patients with conditions such as Fuchs' endothelial dystrophy, pseudoexfoliation, history of trauma, or brunescent cataracts may particularly benefit from this technology. There are significant financial and logistical issues to consider prior to the purchase of a FSL, including the cost of the laser, and charges to patients, and how the laser affects the patient flow in the operating room. The FSL may significantly change the current approach to cataract surgery.

Phacoemulsification in subluxated cataract.

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Praveen M

2003-01-01

Full Text Available Purpose: To evaluate the outcome of phacoemulsification in eyes with subluxated cataract. Materials and Methods: This retrospective study comprised 22 eyes of 20 consecutive patients with subluxated cataracts of varying aetiology operated between March 1998 and March 2001. Detailed preoperative assessment included visual acuity (VA, slitlamp examination, presence of vitreous in anterior chamber, extent of subluxation, intraocular pressure (IOP and detailed fundus examination. Phacoemulsification was done to retain the natural bag support and all patients had acrylic foldable Acrysof IOL implantation either in-the-bag or by scleral fixation. Postoperative observations included best-corrected visual acuity (BCVA, IOP, pupillary reaction and the IOL position. Results: The aetiology of the subluxation was traumatic in 11 patients and non-traumatic in 9 patients. Fifteen were males and 5 were females. Mean follow-up was 11.7 ± 9.71 months (range 4-39. The average age was 39.15 ± 16.33 (range 5 - 74. A 2-port anterior chamber vitrectomy was performed in 6 eyes (27.2%. Capsule tension ring (CTR was implanted in 15 eyes (68.18%. Twelve eyes (54.5% had in-the-bag implants, while 5 (22.72% had scleral fixation. The remaining 5 eyes (22.72% had one haptic in-the-bag and another sutured to sclera. No major intraoperative complications were noted. Twelve eyes (54.5% had clinically and geometrically well centered IOLs while 9 eyes (40.9% had geometrically decentered IOLs. One patient was lost to follow-up. Fifteen eyes (55.55% had postoperative BCVA of 6/12 - 6/6 while 2 eyes (7.40% had BCVA of 6/18. The remaining 4 eyes (14.81% had less than 6/24 BCVA due to pre-existing posterior segment pathology. Postoperative complications included rise in IOP in 1 eye (4.54%, pupillary capture of the IOL optic in 2 eyes (9.09%; the same 2 eyes (9.09% required redialing of IOL. One eye (4.54% had to undergo refixation (one haptic was fixed to sclera year after cataract

Clinical observation of small-incision extracapsular cataract extraction with intraocular lens implantation for the treatment of cataract in the sight restoration project

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Xiao-Jian Cheng

2014-04-01

Full Text Available AIM: To analyze the clinical effects of small-incision extracapsular cataract extraction with intraocular lens implantation for the treatment of cataract.METHODS:Totally 642 cases 676 eyes of cataract were treated by small-incision extracapsular cataract extraction with intraocular lens implantation. Complication during and after operations and postoperative visual acuity was observed.RESULTS:Visual acuity of 670 eyes was ≥0.05 and off-blindness rate was 99.11%, and there was 627 eyes ≥0.3 and the off-disability rate was 92.75% after 1mo. Rupture of posterior capsule during surgery occurred in 24 eyes. Fifty-four eyes were corneal edema, and anterior chamber exudation were 26 eyes, and 23 eyes were hypertension after operation. CONCLUSION: There are a little complications during and after operation for cataract treated by small-incision extracapsular cataract extraction with intraocular lens implantation. Patients have good recovery after operation. This operation does not need high-standard equipments and is suitable in the sight restoration project.

Immediate Sequential Bilateral Cataract Surgery

DEFF Research Database (Denmark)

Kessel, Line; Andresen, Jens; Erngaard, Ditte

2015-01-01

The aim of the present systematic review was to examine the benefits and harms associated with immediate sequential bilateral cataract surgery (ISBCS) with specific emphasis on the rate of complications, postoperative anisometropia, and subjective visual function in order to formulate evidence......-based national Danish guidelines for cataract surgery. A systematic literature review in PubMed, Embase, and Cochrane central databases identified three randomized controlled trials that compared outcome in patients randomized to ISBCS or bilateral cataract surgery on two different dates. Meta-analyses were...... performed using the Cochrane Review Manager software. The quality of the evidence was assessed using the GRADE method (Grading of Recommendation, Assessment, Development, and Evaluation). We did not find any difference in the risk of complications or visual outcome in patients randomized to ISBCS or surgery...

Connexin mutants and cataracts

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Eric C Beyer

2013-04-01

Full Text Available The lens is a multicellular, but avascular tissue that must stay transparent to allow normal transmission of light and focusing of it on the retina. Damage to lens cells and/or proteins can cause cataracts, opacities that disrupt these processes. The normal survival of the lens is facilitated by an extensive network of gap junctions formed predominantly of connexin46 and connexin50. Mutations of the genes that encode these connexins (GJA3 and GJA8 have been identified and linked to inheritance of cataracts in human families and mouse lines. In vitro expression studies of several of these mutants have shown that they exhibit abnormalities that may lead to disease. Many of the mutants reduce or modify intercellular communication due to channel alterations (including loss of function or altered gating or due to impaired cellular trafficking which reduces the number of gap junction channels within the plasma membrane. However, the abnormalities detected in studies of other mutants suggest that they cause cataracts through other mechanisms including gain of hemichannel function (leading to cell injury and death and formation of cytoplasmic accumulations (that may act as light scattering particles. These observations and the anticipated results of ongoing studies should elucidate the mechanisms of cataract development due to mutations of lens connexins and abnormalities of other lens proteins. They may also contribute to our understanding of the mechanisms of disease due to connexin mutations in other tissues.

The Relationship of age, attitude, knowladge, cost to cataract surgery

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Aminatul Fitria

2017-02-01

Full Text Available Cataract is the leading cause of 51% blindness case in the world. Cataract can only be cured trough surgery, but most people with cataract in Indonesia is not in undergoing surgery due to several factors. The increasing number of cataract victim whose not undergoing any treatment to cure them will resulting in increasing number of blindness case, so blindness cause by cataracts can be a public health problem. This research was conducted to determine the relationship of age, attitudes, knowledge and the cost of the action to perform cataract surgery. This research was an observational analytic study with cross sectional design. The samples were cataract patients in Undaan Eye Hospital Surabaya who were randomly selected using a simple random sampling based on medical records of 60 people. Data collection was done by taking secondary data and interviews to patients. Those variables was analyzed with chi square or Fisher’s exact with significancy level at 95%. The result showed that there were correlation between knowledge (p = 0.017, operating costs (p = 0.001 and attitude (0.000 while age was not related (p = 1.000, the actions to perform cataract surgery. The conclusion from this research was the attitude, knowledge and operating costs related to the actions to perform cataract surgery, while age was not related to the actions to perform cataract surgery. It is recommended to give through leaflets or other media in the lobby for improving patient education, counseling to the patient family, the doctor’s advice to convince patient for surgery. Keywords: practice, surgery, cataract, attitudes, costs

Anti-Cataract Potential of Heliotropium indicum Linn on Galactose-Induced Cataract in Sprague-Dawley Rats.

Science.gov (United States)

Kyei, Samuel; Koffuor, George A; Ramkissoon, Paul; Abu, Emmanuel K; Sarpong, Josephine F

2017-03-01

To evaluate the anti-cataract potential of an aqueous whole plant extract of Heliotropium indicum (HIE) on galactose-induced cataract in Sprague-Dawley rats. Cataract scores were recorded in 3-week-old Sprague-Dawley rats in which cataract was being induced by an oral administration of 1500 mgkg -1 galactose twice daily for 4 weeks, and concurrently being treated with 30, 100, or 300 mgkg -1 HIE daily over the induction period. Fasting blood glucose was monitored at weekly intervals. Changes in body weight as well as total lens protein, lens glutathione, and superoxide dismutase (SOD) were determined initially, and at the end of the experimental period. Crystalline lens weight-to-body-weight ratio was also determined for the various treatment groups at the end of the experimental period. Preliminary phytochemical screening, total antioxidant capacity, and reducing power assays were conducted on HIE. The 30 and 100 mgkg -1 HIE-treated rats recorded significantly lower (p ≤ 0.05-0.001) cataract scores (indicating very significant delays in cataractogenesis by the 3 rd and 4 th weeks of treatment) and blood glucose levels. Rats with delayed cataractogenesis also exhibited significant (p ≤ 0.05-0.001) weight gain, and reduction in lens weight. Total lens proteins glutathione and SOD levels in the crystalline lens were also significantly preserved (p ≤ 0.01-0.001). HIE showed substantial antioxidant capacity and reducing power. The aqueous whole plant extract of Heliotropium indicum delays cataractogenesis at an optimum dose of 30 mgkg -1 in Sprague-Dawley rats.

Role of cataract surgery in lowering intraocular pressure

International Nuclear Information System (INIS)

Ahmad, S.; Sabih, A.

2015-01-01

To study the effects of cataract surgery in lowering of intraocular pressure (IOP). Study Design: Retrospective study. Place and Duration of Study: The Department of Ophthalmology, Combined Military Hospital, Rawalpindi from January 2011 to December 2013. Patients and Methods: The study included a total of 250 patients; of which 100 cases had simple cataract with no coexisting disease, 100 cases had cataract with primary open angle glaucoma and 50 cases of cataract had accompanying pseudoexfoliation glaucoma. All patients were assessed and recorded preoperatively for their IOP, vision, depth of anterior chamber (ACD), angle of anterior chamber by gonioscopy and glaucoma medications being used. Cataract surgery was performed by phacoemulsification and IOL implantations in all cases. These patients were followed up for a period of six months. Results: The intraocular ressure of all these patients was recorded at monthly interval for six months. The IOP showed a significant decrease in all cases and remained constant till the end of the study. A marked improvement of vision was noted in all cases. The depth of the anterior chamber increased and the angle also widened in all cases. Discussion: Cataract surgery has been found to reduce IOP along with improvement in vision. Patients with glaucoma have a dual benefit of reduced IOP and visual improvement after cataract surgery. (author)

EPHA2 polymorphisms and age-related cataract in India.

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Periasamy Sundaresan

Full Text Available We investigated whether previously reported single nucleotide polymorphisms (SNPs of EPHA2 in European studies are associated with cataract in India.We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III. Cataract was defined as a LOCS III grade of nuclear ≥4, cortical ≥3, posterior sub-capsular (PSC ≥2, or dense opacities or aphakia/pseudophakia in either eye. We genotyped SNPs rs3754334, rs7543472 and rs11260867 on genomic DNA extracted from peripheral blood leukocytes using TaqMan assays in an ABI 7900 real-time PCR. We used logistic regression with robust standard errors to examine the association between cataract and the EPHA2 SNPs, adjusting for age, sex and location.7418 participants had data on at least one of the SNPs investigated. Genotype frequencies of controls were in Hardy-Weinberg Equilibrium (p>0.05. There was no association of rs3754334 with cataract or type of cataract. Minor allele homozygous genotypes of rs7543472 and rs11260867 compared to the major homozygote genotype were associated with cortical cataract, Odds ratio (OR = 1.8, 95% Confidence Interval (CI (1.1, 3.1 p = 0.03 and 2.9 (1.2, 7.1 p = 0.01 respectively, and with PSC cataract, OR = 1.5 (1.1, 2.2 p = 0.02 and 1.8 (0.9, 3.6 p = 0.07 respectively. There was no consistent association of SNPs with nuclear cataract or a combined variable of any type of cataract including operated cataract.Our results in the Indian population agree with previous studies of the association of EPHA2 variants with cortical cataracts. We report new findings for the association with PSC which is particularly prevalent in Indians.

Exploiting ensemble learning for automatic cataract detection and grading.

Science.gov (United States)

Yang, Ji-Jiang; Li, Jianqiang; Shen, Ruifang; Zeng, Yang; He, Jian; Bi, Jing; Li, Yong; Zhang, Qinyan; Peng, Lihui; Wang, Qing

2016-02-01

Cataract is defined as a lenticular opacity presenting usually with poor visual acuity. It is one of the most common causes of visual impairment worldwide. Early diagnosis demands the expertise of trained healthcare professionals, which may present a barrier to early intervention due to underlying costs. To date, studies reported in the literature utilize a single learning model for retinal image classification in grading cataract severity. We present an ensemble learning based approach as a means to improving diagnostic accuracy. Three independent feature sets, i.e., wavelet-, sketch-, and texture-based features, are extracted from each fundus image. For each feature set, two base learning models, i.e., Support Vector Machine and Back Propagation Neural Network, are built. Then, the ensemble methods, majority voting and stacking, are investigated to combine the multiple base learning models for final fundus image classification. Empirical experiments are conducted for cataract detection (two-class task, i.e., cataract or non-cataractous) and cataract grading (four-class task, i.e., non-cataractous, mild, moderate or severe) tasks. The best performance of the ensemble classifier is 93.2% and 84.5% in terms of the correct classification rates for cataract detection and grading tasks, respectively. The results demonstrate that the ensemble classifier outperforms the single learning model significantly, which also illustrates the effectiveness of the proposed approach. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Manual small incision extracapsular cataract surgery in Australia.

Science.gov (United States)

van Zyl, Lourens; Kahawita, Shyalle; Goggin, Michael

2014-11-01

Examination of the results and describing the technique of manual small incision extracapsular cataract extraction on patients with advanced cataracts in urban Australia. A descriptive case series. Thirty-eight patients at three public hospitals, one tertiary and two secondary ophthalmic units in urban Australia. Forty eyes with dense mature cataracts with hand movement vision or worse underwent a planned manual small incision extracapsular cataract extraction instead of traditional phaco-emulsification. Postoperative visual aquity, surgically induced astigmatism and complications. Seventy-eight per cent of patients had an uncorrected visual acuity of 6/12 or better on the first postoperative day. Eighty-three per cent of patients had a distance corrected visual acuity of 6/9 or better 3 months postoperatively. One case was complicated by a posterior capsule rupture. No cases of endophthalmitis were reported. The summated vector mean of the surgically induced astigmatism was 0.089D at 93°. Manual small incision extracapsular cataract extraction is an efficacious cataract surgery technique with good visual outcome and is a safe alternative to phaco-emulsification in suitable cases in a first-world setting. © 2014 Royal Australian and New Zealand College of Ophthalmologists.

The results of ab interno laser thermal sclerostomy combined with cataract surgery versus trabeculectomy combined with cataract surgery 6 to 12 months postoperatively.

Science.gov (United States)

Kendrick, R; Kollarits, C R; Khan, N

1996-07-01

When cataract surgery and glaucoma surgery are combined, the theoretical advantages of pressure control, removal of the visual impairment, and protection against an increase in intraocular pressure (IOP) in the immediate postoperative period are gained. The authors' objective was to determine whether ab interno laser thermal sclerostomy (LTS) combined with cataract surgery would be as effective as trabeculectomy combined with cataract surgery. Ab interno LTS was compared with trabeculectomy, retrospectively, for patients who had undergone combined cataract and glaucoma surgery. There was no significant difference in the numbers of patients using no medications or fewer medications at 6 and 12 months. There was a greater reduction in IOP in the LTS group. LTS may be better than trabeculectomy in combined cataract and glaucoma surgery because it reduces the IOP more. Compared with trabeculectomy, LTS is simpler to perform and adds less operating time to cataract surgery. Continued follow-up is recommended.

Overview of the current attempts toward the medical treatment of cataract

Energy Technology Data Exchange (ETDEWEB)

Kador, P.F.

1983-04-01

A variety of agents are currently available that claim to either prevent, delay, or reverse cataracts associated with aging (senile cataracts), radiation, or diabetes and galactosemia (sugar cataracts). Senile cataract therapy includes formulation containing inorganic salts, nutritional supplements, natural product extracts, sulfhydryl, and sulfonic acid containing compounds and miscellaneous redox and nonsteroidal anti-inflammatory compounds. Agents associated with the treatment of radiation cataracts include antioxidants and free radial scavengers. Aldose reductase inhibitors have been effective in the prevention of sugar cataracts. A summary of these agents and their potential ocular effects are presented.

Overview of the current attempts toward the medical treatment of cataract

International Nuclear Information System (INIS)

Kador, P.F.

1983-01-01

A variety of agents are currently available that claim to either prevent, delay, or reverse cataracts associated with aging (senile cataracts), radiation, or diabetes and galactosemia (sugar cataracts). Senile cataract therapy includes formulation containing inorganic salts, nutritional supplements, natural product extracts, sulfhydryl, and sulfonic acid containing compounds and miscellaneous redox and nonsteroidal anti-inflammatory compounds. Agents associated with the treatment of radiation cataracts include antioxidants and free radial scavengers. Aldose reductase inhibitors have been effective in the prevention of sugar cataracts. A summary of these agents and their potential ocular effects are presented

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

Science.gov (United States)

Rodríguez-Pazos, L; Ginarte, M; Fachal, L; Toribio, J; Carracedo, A; Vega, A

2011-10-01

  Mutations in six genes have been identified in autosomal recessive congenital ichthyosis (ARCI). To date, few studies have analysed the spectrum of these mutations in specific populations. We have studied the characteristics of patients with ARCI in Galicia (NW Spain). Methods  We recruited patients by contacting all dermatology departments of Galicia and the Spanish patient organization for ichthyosis. TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 were analysed in the patients and their relatives. We identified 23 patients with ARCI and estimated a prevalence of 1 : 122 000. Twenty of the patients were studied. Seventeen of them were clinically categorized as having lamellar ichthyosis (LI) and three as having congenital ichthyosiform erythroderma (CIE). TGM1 and ALOXE3 mutations were identified in 12/16 (75%) probands whereas no ALOX12B, NIPAL4 and CYP4F22 mutations were found. TGM1 mutations were found in 11/13 (85%) of LI probands. ALOXE3 mutations were identified in a single patient with CIE. Remarkably, mutations p.Arg760X, p.Asp408ValfsX21 and c.984+1G>A of TGM1 were present in six, four and two families, accounting for 41%, 23% and 14% of all TGM1 mutant alleles, respectively. The high percentage of patients with the same TGM1 mutations, together with the high number of homozygous probands (64%), indicates the existence of a strong founder effect in our population. © 2011 The Authors. BJD © 2011 British Association of Dermatologists 2011.

Cx43, ZO-1, alpha-catenin and beta-catenin in cataractous lens

Indian Academy of Sciences (India)

Specimens of the anterior lens capsule with an attached monolayer of lens epithelial cells (LECs) were obtained from patients (=52) undergoing cataract surgery. Specimens were divided into three groups based on the type of cataract: nuclear cataract, cortical cataract and posterior subcapsular cataract (PSC).

Cataract surgical coverage rate among adults aged 40 years and older

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Lusianawaty Tana

2016-02-01

Full Text Available Cataract is a leading cause of curable blindness. Hence, in its global declaration of ‘Vision 2020 Right to Sight’, the World Health Organization (WHO encouraged its member countries to address the problem of incident cataract. Many factors are related to the cataract surgical coverage rate, such as gender and diabetes mellitus. The objective of this study was to determine the cataract surgical coverage rate and investigate the determinants factors of cataract surgical coverage rate among adults 40 years old and above with cataract. A cross sectional study was conducted using National Basic Health Research (Riskesdas 2007 data. Cataract surgery was defined as surgery conducted within the last 12 months before the survey was performed. There were 6939 subjects (3105 male, 3834 female who fulfilled the study criteria. The cataract surgical coverage rate was 19.3%. The cataract surgical coverage rate was lower in subjects with low education, in the group of farmers/fishermen/laborers, in the 40-49 years age group, in rural areas, and in subjects of low socioeconomic status (p0.05. Determinants that were related to cataract surgical coverage rate were age, type of area of residence, socioeconomic status, and region of residence (p<0.001. The implementation of educational programs and reforms to local ophthalmic health services may improve the cataract surgical coverage rate.

Editorial: Improving cataract outcomes through good postoperative care

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Nick Astbury

2016-10-01

Full Text Available Cataract surgery is one of the most successful and frequently performed operations worldwide, and yet cataract remains the commonest cause of global blindness. This is in part due to the shortage and uneven distribution of trained personnel in some countries. More worryingly, a high rate of cataract blindness also reflects poor visual outcomes after surgery, as has been documented in many RAAB (rapid assessment of avoidable blindness studies.

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

NARCIS (Netherlands)

Dill, P.; Schneider, J.; Weber, P.; Trachsel, D.; Tekin, M.; Jakobs, C.A.J.M.; Thony, B.; Blau, N.

2011-01-01

We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome). Both conditions are exceptionally rare autosomal recessive inherited diseases mapped to 11q13. Our patient was found to have novel

Risk factors for cataract: A case control study

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Ughade Suresh

1998-01-01

Full Text Available The present study was designed as a hospital-based, group-matched, case-control investigation into the risk factors associated with age-related cataract in central India. The study included 262 cases of age-related cataract and an equal number of controls. A total of 21 risk factors were evaluated: namely, low socioeconomic status (SES, illiteracy, marital status, history of diarrhoea, history of diabetes, glaucoma, use of cholinesterase inhibitors, steroids, spironolactone, nifedipine, analgesics, myopia early in life, renal failure, heavy smoking, heavy alcohol consumption, hypertension, low body mass index (BMI, use of cheaper cooking fuel, working in direct sunlight, family history of cataract, and occupational exposure. In univariate analysis, except marital status, low BMI, renal failure, use of steroids, spironolactone, analgesics, and occupational exposure, all 14 other risk factors were found significantly associated with age-related cataract. Unconditional multiple logistic regression analysis confirmed the significance of low SES, illiteracy, history of diarrhoea, diabetes, glaucoma, myopia, smoking, hypertension and cheap cooking fuel. The etiological role of these risk factors in the outcome of cataract is confirmed by the estimates of attributable risk proportion. The estimates of population attributable risk proportion for these factors highlight the impact of elimination of these risk factors on the reduction of cataract in this population.

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.

Science.gov (United States)

Caridi, Gianluca; Dagnino, Monica; Erdeve, Omer; Di Duca, Marco; Yildiz, Duran; Alan, Serdar; Atasay, Begum; Arsan, Saadet; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo

2014-01-01

Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in a female newborn of consanguineous (first degree cousins) parents from Ankara, Turkey, who presented with a low albumin concentration (A transition at position c.1652+1, the first base of intron 12, which inactivates the strongly conserved GT dinucleotide at the 5' splice site consensus sequence of this intron. The splicing defect results in the complete skipping of the preceding exon (exon 12) and in a frame-shift within exon 13 with a premature stop codon after the translation of three mutant amino acid residues. Our results confirm the clinical diagnosis of congenital analbuminemia in the proband and the inheritance of the trait and contribute to shed light on the molecular genetics of analbuminemia.

[Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene].

Science.gov (United States)

Teriutin, F M; Barashkov, N A; Dzhemileva, L U; Posukh, O L; Fedotova, E E; Gurinova, E E; Fedorova, S A; Tavartkiladze, G A; Khusnutdinova, E K

2009-01-01

This paper reports the first case of cochlear implantation performed in this country in a child with congenital non-syndromic sensorineural loss of hearing having hereditary etiology and attributable to autosomal-recessive 35 delG mutation in locus DFNB1 (13q.11-q12) of GJB2 (connexin 26) gene.

Cataracts induced by microwave and ionizing radiation

International Nuclear Information System (INIS)

Lipman, R.M.; Tripathi, B.J.; Tripathi, R.C.

1988-01-01

Microwaves most commonly cause anterior and/or posterior subcapsular lenticular opacities in experimental animals and, as shown in epidemiologic studies and case reports, in human subjects. The formation of cataracts seems to be related directly to the power of the microwave and the duration of exposure. The mechanism of cataractogenesis includes deformation of heat-labile enzymes, such as glutathione peroxide, that ordinarily protect lens cell proteins and membrane lipids from oxidative damage. Oxidation of protein sulfhydryl groups and the formation of high-molecular-weight aggregates cause local variations in the orderly structure of the lens cells. An alternative mechanism is thermoelastic expansion through which pressure waves in the aqueous humor cause direct physical damage to the lens cells. Cataracts induced by ionizing radiation (e.g., X-rays and gamma rays) usually are observed in the posterior region of the lens, often in the form of a posterior subcapsular cataract. Increasing the dose of ionizing radiation causes increasing opacification of the lens, which appears after a decreasing latency period. Like cataract formation by microwaves, cataractogenesis induced by ionizing radiation is associated with damage to the lens cell membrane. Another possible mechanism is damage to lens cell DNA, with decreases in the production of protective enzymes and in sulfur-sulfur bond formation, and with altered protein concentrations. Until further definitive conclusions about the mechanisms of microwaves and ionizing radiation induced cataracts are reached, and alternative protective measures are found, one can only recommend mechanical shielding from these radiations to minimize the possibility of development of radiation-induced cataracts. 74 references

Retrobulbar versus subconjunctival anesthesia for cataract surgery ...

African Journals Online (AJOL)

Objectives: To compare the effectiveness, in terms of pain relief and akinesia of retrobulbar and subconjunctival an aesthesia during cataract surgery and also to compare the degree of postoperative ptosis associated with each technique. Materials and Methods: Consecutive adult patients undergoing cataract surgery ...

Prevalence of Cataract Blindness in Rural Ethiopia

African Journals Online (AJOL)

Bernt Lindtjørn

Background: Over three-quarter of all blindness worldwide are preventable and usually caused by cataract and trachoma. Objective: To assess the ... Ophthalmologists from other areas conduct cataract operations once or twice each ... Some patients may have two eyes disorder causing visual impairment. The accepted ...

Evaluation of Complications of Extracapsular Cataract Extraction ...

African Journals Online (AJOL)

hanumantp

Department of Ophthalmology, University of Nigeria Teaching Hospital, Enugu, 1Department of Ophthalmology, Guinness. Eye Centre, Onitsha, Nigeria. Abstract .... Br J Ophthalmol 2007;91:1315‑7. 6. Hennig A. Sutureless non‑phaco cataract surgery: A solution to reduce worldwide cataract blindness? Community Eye.

Relationship between cataract severity and socioeconomic status.

Science.gov (United States)

Wesolosky, Jason D; Rudnisky, Christopher J

2013-12-01

To determine the relationship between cataract severity and socioeconomic status (SES). Retrospective, observational case series. A total of 1350 eyes underwent phacoemulsification cataract extraction by a single surgeon using an Alcon Infiniti system. Cataract severity was measured using phaco time in seconds. SES was measured using area-level aggregate census data: median income, education, proportion of common-law couples, and employment rate. Preoperative best corrected visual acuity was obtained and converted to logarithm of the minimum angle of resolution values. For patients undergoing bilateral surgery, the generalized estimating equation was used to account for the correlation between eyes. Univariate analyses were performed using simple regression, and multivariate analyses were performed to account for variables with significant relationships (p < 0.05) on univariate testing. Sensitivity analyses were performed to assess the effect of including patient age in the controlled analyses. Multivariate analyses demonstrated that cataracts were more severe when the median income was lower (p = 0.001) and the proportion of common-law couples living in a patient's community (p = 0.012) and the unemployment rate (p = 0.002) were higher. These associations persisted even when controlling for patient age. Patients of lower SES have more severe cataracts. Copyright © 2013 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia

OpenAIRE

Kolahdouz, Mahsa; Mohammadi, Zahra; Kolahdouz, Parisa; Tajamolian, Masoud; Khanahmad, Hossein

2015-01-01

Congenital adrenal hyperplasia (CAH) is a putative error of metabolism with autosomal recessive heredity pattern. The main manifestations of classic form of CAH are salt-wasting, dehydration and simple virilization in both sexes and ambiguous genitalia in female gender. 21-hyroxylase (CYP21A2) impairment with prevalence value of 1 in 10,000?15,000 live births is the most common etiology of CAH. Because of consanguineous marriages, the frequency of the CAH in Iran is very high. A wide range of...

Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance?

Science.gov (United States)

Malekpour, Mahdi; Shahidi, Arash; Khorsandi Ashtiani, Mohammad Taghi; Motasaddi Zarandy, Masoud

2007-07-15

Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic congenital disorder. Here we describe a syndrome in five brothers with the distinctive presentation of late-onset progressive hearing loss, cataracts, retinitis pigmentosa, sperm motility and shape problems in a family from the Kurdish population in Iran. The clinical findings of these patients are presented in detail and compared to the classical Usher syndromes. (c) 2007 Wiley-Liss, Inc

Risk of occupational radiation-induced cataract in medical workers

International Nuclear Information System (INIS)

Snezana, Milacic

2008-01-01

The objective of this study was determination of criteria for recognition of a pre senile cataract as a professional disease in health care personnel exposed to small doses of ionizing radiation. Method: The study included 3240 health workers in medical centers of Serbia in the period 1992-2002. A total of 1560 workers were employed in the zone (group A) and 1680 out of ionizing radiation zone (group B). Among group A, two groups had been selected: 1. Group A-1: Health workers in the ionizing radiation zone who contracted lens cataract during their years of service while dosimetry could not reveal higher absorbed dose (A-1=115); 2. Group A-2: Health workers in the ionizing radiation zone with higher incidence of chromosomal aberrations and without cataract (A-2=100). Results: More significant incidence of cataract was found in group A, χ 2 =65.92; p<0.01. Radiation risk was higher in health workers in radiation zone than in others, relative risk is 4, 6. Elevated blood sugar level was found in higher percentage with health workers working in radiation zone who developed cataract. Conclusion: Low doses of radiation are not the cause of occupational cataract as individual occupational disease. X-ray radiation may be a significant cofactor of cataract in radiological technicians. (author)

Trainee ophthalmologists' opinions on ways to improve cataract ...

African Journals Online (AJOL)

2010-02-08

Feb 8, 2010 ... D'autres incluent local production de la cataracte consommables 22 (81.5%), franchise importation d'ophtalmique ... potential decision makers and implementers of eye ... in rural areas; social welfare package making cataract.

Task shifting for cataract surgery in eastern Africa: productivity and attrition of non-physician cataract surgeons in Kenya, Malawi and Tanzania.

Science.gov (United States)

Eliah, Edson; Lewallen, Susan; Kalua, Khumbo; Courtright, Paul; Gichangi, Michael; Bassett, Ken

2014-01-01

This project examined the surgical productivity and attrition of non-physician cataract surgeons (NPCSs) in Tanzania, Malawi, and Kenya. Baseline (2008-9) data on training, support, and productivity (annual cataract surgery rate) were collected from officially trained NPCSs using mailed questionnaires followed by telephone interviews. Telephone interviews were used to collect follow-up data annually on productivity and semi-annually on attrition. A detailed telephone interview was conducted if a surgeon left his/her post. Data were entered into and analysed using STATA. Among the 135 NPCSs, 129 were enrolled in the study (Kenya 88, Tanzania 38, and Malawi 3) mean age 42 years; average time since completing training 6.6 years. Employment was in District 44%, Regional 24% or mission/ private 32% hospitals. Small incision cataract surgery was practiced by 38% of the NPCSs. The mean cataract surgery rate was 188/year, median 76 (range 0-1700). For 39 (31%) NPCSs their surgical rate was more than 200/year. Approximately 22% in Kenya and 25% in Tanzania had years where the cataract surgical rate was zero. About 11% of the surgeons had no support staff. High quality training is necessary but not sufficient to result in cataract surgical activity that meets population needs and maintains surgical skill. Needed are supporting institutions and staff, functioning equipment and programs to recruit and transport patients.

αA crystallin may protect against geographic atrophy-meta-analysis of cataract vs. cataract surgery for geographic atrophy and experimental studies.

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Peng Zhou

Full Text Available BACKGROUND: Cataract and geographic atrophy (GA, also called advanced "dry" age-related macular degeneration are the two major causes of visual impairment in the developed world. The association between cataract surgery and the development of GA was controversial in previous studies. METHODS/PRINCIPAL FINDINGS: We performed a meta-analysis by pooling the current evidence in literature and found that cataract is associated with an increased risk of geographic atrophy with a summary odds ratio (OR of 3.75 (95% CI: 95% CI: 1.84-7.62. However, cataract surgery is not associated with the risk of geographic atrophy (polled OR=3.23, 95% CI: 0.63-16.47. Further experiments were performed to analyze how the αA-crystallin, the major component of the lens, influences the development of GA in a mouse model. We found that theαA-crystallin mRNA and protein expression increased after oxidative stress induced by NaIO(3 in immunohistochemistry of retinal section and western blot of posterior eyecups. Both functional and histopathological evidence confirmed that GA is more severe in αA-crystallin knockout mice compared to wild-type mice. CONCLUSIONS: Therefore, αA-crystallin may protect against geographic atrophy. This study provides a better understanding of the relationship between cataract, cataract surgery, and GA.

Role of lipid peroxidation in pathogenesis of senile cataract

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Kisić Bojana

2009-01-01

Full Text Available Background /Aim. Cataract is a structural, biochemical and optical change in the eye lens, which changes transmission and refraction of light rays reducing keenness and clarity of a figure on the retina. Its occurrence is highest in older people, over the age of 65 (45.9%, thus a certain degree of opacification exists practically in all people over the 70. Our research was directed to measuring of lipid peroxidation products in cataract lenses involved in early stages of cataractogenesis through oxidative stress and in the development of mature cataract. Methods. Clinical and biochemical research was carried out in 101 patients with cataract, 46 women and 55 men. The average age of the group was 72.47 (ґ = 7.98. According to the cataract maturity degree the patients were classified into two groups as follows: cataracta senilis incipiens (n = 41 and cataracta senilis matura (n = 60. Measuring of diene conjugates was carried out by spectrophotometer. Fluorescent lipid peroxidation products were measured by a spectrofluorophotometer, and malondialdehyde (MDA concentration was measured by colorimeter as a product of a reaction with thiobarbituric acid (TBA. Result. Significantly higher diene conjugated concentration in lenses was measured in the patients with the diagnosis cataracta senilis incipiens (p < 0.001 as well as the intensity of fluorescent iminopropens (p < 0.001. Significantly higher MDA concentration in lens (p < 0.001 was measured in the patients with cataracta senilis matura. Conclusion. The lens structure changes caused by lipid peroxidation can, with other risk factors present, influence the occurrence and development of mature cataract. Some cataract types show different lipid peroxidation intensity with the most distinct changes in cataract which started as corticonuclear.

Benign prostatic hyperplasia: clinical treatment can complicate cataract surgery

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Fernando Facio

2010-10-01

Full Text Available PURPOSE: To investigate the effects of alpha-1 adrenergic receptor antagonists for the treatment of benign prostatic hyperplasia (BPH regarding potential risks of complications in the setting of cataract surgery. AIM: To address recommendations, optimal control therapy, voiding symptoms and safety within the setting of cataract surgery. MATERIALS AND METHODS: A comprehensive literature review was performed using MEDLINE with MeSH terms and keywords "benign prostatic hyperplasia", "intraoperative floppy iris syndrome", "adrenergic alpha-antagonist" and "cataract surgery". In addition, reference lists from identified publications were reviewed to identify reports and studies of interest from 2001 to 2009. RESULTS: The first report of intraoperative floppy iris syndrome (IFIS was observed during cataract surgery in patients taking systemic alpha-1 AR antagonists in 2005. It has been most commonly seen related to use of tamsulosin. Changes of medication and washout periods of up to 2 weeks have been attempted to reduce the risk of complications in the setting of cataract surgery. CONCLUSION: Patients under clinical treatment for BPH should be informed about potential risks of this drug class so that it can be discuss with their healthcare providers, in particular urologist and ophthalmologist, prior to cataract surgery.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4 phenotype

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Fernandez Bridget A

2012-11-01

Full Text Available Abstract Background Severe congenital neutropenia type 4 (SCN4 is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3. Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4 is caused by autosomal recessive mutations in SLC45A2. Methods We report a sister and brother from Newfoundland, Canada with complex phenotypes. The sister was previously reported by Cullinane et al., 2011. We performed homozygosity mapping, next generation sequencing and conventional Sanger sequencing to identify mutations that cause the phenotype in this family. We have also summarized clinical data from 49 previously reported SCN4 cases with overlapping phenotypes and interpret the medical histories of these siblings in the context of the literature. Results The siblings’ phenotype is due in part to a homozygous mutation in G6PC3, [c.829C > T, p.Gln277X]. Their ages are 38 and 37 years respectively and they are the oldest SCN4 patients published to date. Both presented with congenital neutropenia and later developed Crohn disease. We suggest that the latter is a previously unrecognized SCN4 manifestation and that not all affected individuals have an intellectual disability. The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. Her brother carried one SLC45A2 mutation and was diagnosed with “partial OCA” in childhood. Conclusions This family highlights that apparently novel syndromes can in fact be caused by two known autosomal recessive disorders.

Do older drivers with bilateral cataract self-regulate their driving while waiting for first eye cataract surgery?

Directory of Open Access Journals (Sweden)

Agramunt S

2017-11-01

Full Text Available Seraina Agramunt,1 Lynn B Meuleners,1 Michelle L Fraser,1 Kyle C Chow,1 Jonathon Q Ng,2,3 Vignesh Raja,4 Nigel Morlet2,3 1Curtin-Monash Accident Research Centre (C-MARC, Curtin University, Faculty of Health Sciences, Perth, Australia; 2Eye & Vision Epidemiology Research (EVER Group, Perth, Australia; 3School of Population and Global Health, The University of Western Australia, Perth, Australia; 4Sir Charles Gairdner Hospital, Perth, Australia Objectives: To analyze the association between visual impairment and driver self-regulation among a cohort of older drivers waiting for first eye cataract surgery.Methods: Ninety-six drivers with bilateral cataract aged 55+ years were assessed before first eye cataract surgery. Data collection consisted of a researcher-administered questionnaire, objective visual measures (visual acuity, contrast sensitivity and stereopsis, a visual attention test (the useful field of view test and a cognitive test (the Mini-Mental State Examination. Driver self-regulation practices were collected using the Driving Habits Questionnaire and were also measured with an in-vehicle monitoring device. Characteristics of self-regulators and non-self-regulators were compared and a logistic regression model was used to examine the association between 3 objective visual measures and driver self-regulation status.Results: After controlling for potential confounding factors, only binocular contrast sensitivity (p=0.01, age (p=0.03 and gender (p=0.03 were significantly associated with driver self-regulation status. The odds of participants with better contrast sensitivity scores (better vision self-regulating their driving in at least 1 driving situation decreased (odds ratio [OR]: 0.01, 95% CI: 0.00–0.28 while those of increasing age reported an increased odds of self-regulating their driving (OR: 1.08, 95% CI: 1.01–1.15. The odds of males self-regulating their driving was decreased compared with females (OR: 0.28, 95% CI: 0.09�

Monitoring Cataract Surgical Outcome in a Public Hospital in Orlu ...

African Journals Online (AJOL)

Objective: To determine the proportion and causes of poor visual outcome of cataract operations done in a public hospital in southeast Nigeria and propose actions to improve the cataract surgical outcome. Method: A prospective observational analysis of the initial hundred cases of cataract operations done in Imo State ...

Selenite cataract and its attenuation by vitamin E in wistar rats.

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Mathew Joe

2003-01-01

Full Text Available Purpose: To study the role of vitamin E in preventing cataract formation in experimental animals. Methods: An experimental model (selenite cataract was selected for this study. Selenite cataract was produced in rats by subcutaneous administration of sodium selenite. Biochemical and histological changes following induction of selenite cataract in weanling wistar rats were studied vis-à-vis the role of vitamin E in attenuating or preventing cataractogenesis. Results: Vitamin E was capable of preventing selenite cataractogenesis. Selenite cataract did not develop in 91.6% (11 of 12 and 76.7% (8 of 12 vitamin E treated rats, when administered on the 12th and 10th post partum day respectively. Conclusion: The study confirmed that selenite induced cataract in wistar rats is attenuated by vitamin E.

Cataract surgery audit at an Australian urban teaching hospital.

Science.gov (United States)

Kahawita, Shyalle K; Goggin, Michael

2015-08-01

To provide local data on visual acuity and surgical outcomes for cataract surgery performed in an Australian teaching hospital. Continuous audit over 7 years in a public teaching hospital. A total of 3740 eyes had cataract surgery performed at The Queen Elizabeth Hospital, South Australia, from May 2006 to September 2013. Visual acuity and complication rates were recorded for cataract surgery cases operated on between May 2006 and September 2013 on a digital database with data entry contemporaneous with final follow-up. Visual acuity and surgical complications. Of the patients, 91.4% achieved postoperative best-measured vision better than preoperative best-measured vision. The rate of posterior capsular tear was 2.59%, endophthalmitis was 0.11% and the overall complication rate was 11.7%. This audit is the first to document modern cataract surgery, overwhelmingly dominated by phacoemulsification in an Australian population and can be used to benchmark cataract surgery outcome in an urban Australian population. © 2015 Royal Australian and New Zealand College of Ophthalmologists.

Glaucoma and cataract surgery: two roads merging into one.

Science.gov (United States)

Shah, Manjool; Law, Geoffrey; Ahmed, Iqbal Ike K

2016-01-01

To discuss the increasing utilization of cataract extraction in the management of glaucoma and to highlight advances in surgical care that can promote synergistic treatment of these comorbid conditions. Recent years have demonstrated significant advances in the management of glaucoma through the use of novel microinvasive glaucoma devices. Furthermore, an increased understanding of the role of cataract surgery in the treatment of various glaucomas warrants review. Nevertheless, cataract surgery in the glaucoma patient warrants specific preoperative, intraoperative, and postoperative planning to optimize visual function and quality of life while mitigating potential risk factors for adverse events. Although the challenges of performing cataract extraction on glaucoma patients exist, the potential benefit to these patients is substantial. With attention to pre- and perioperative surgical planning and intraoperative technique, as well as with awareness and potential utilization of novel devices and treatment strategies, cataract extraction offers a unique platform for anatomical and functional improvement in this increasingly common cohort of patients.

Congenital rubella syndrome: a review of laboratory data from 2002 to 2011.

Science.gov (United States)

Saraswathy, T S; Rozainanee, M Z; Asshikin, R Nurul; Zainah, S

2013-05-01

Rubella infection in pregnant women during the first trimester of pregnancy can lead to fetal anomalies, commonly known as congenital rubella syndrome (CRS). The objective of our study was to analyze the serological test results among infants suspected of having CRS aged Malaysia were examined for rubella specific IgM and IgG antibodies using a Axsym, automated analyzer (Abbott Laboratories). Forty-eight samples were positive for rubella specific IgM antibodies and 494 samples were positive for rubella specific IgG antibodies. These were then age stratified and their clinical history reviewed for any CRS symptoms. Fifteen of 38 rubella IgM positive infants (39.5%) aged < 3 months, had a clinical appearance compatible with CRS. However, only 1 IgM positive infant aged 3 to 6 months and one infant aged 7 to 11 months had clinical appearance compatible with CRS. The most common abnormal findings in these cases were congenital heart defects and cataracts. Forty-eight point eight percent of IgM positive cases and 53.1% of IgG positive cases, had inadequate information in the chart to determine the presence of CRS. Clinical findings and timely laboratory diagnosis to determine the presence of CRS are important in infants born with congenital defects. Physicians should also be aware of the appropriate interpretation of these findings.

Analysis of laser photocoagulation with cataract surgery for improvement of visual acuity and macular edema in patients with cataract and diabetic macular edema

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Chao-Yu Wang

2016-02-01

Full Text Available AIM:To explore laser photocoagulation with cataract surgery for improvement of visual acuity and macular edema in patients with cataract and diabetic macular edema.METHODS:A total of 60 patients(72 eyesfrom January 2014 to July 2015 in our hospital were selected, which all were diagnosed as cataract with diabetic macular edema. According to a random number table method, the patients were divided into observation group and control group, 30 cases(36 eyesin each group. The observation group was treated with combination therapy of laser photocoagulation before cataract surgeries, while the control group with the combination therapy of laser photocoagulation after cataract surgeries. At 2mo after surgeries, some routine examination, such as visual acuity, fundus examination after mydriasis, slit lamp examination, optical coherence tomography(OCTexamination, fluorescence angiography examination(FFAfor retinal blood vessels were applied in all the patients. RESULTS:The visual acuity of the observation group and the control group before treatments was not significantly different(P>0.05. At 2mo after treatments, the visual inspection showed that compared with the visual acuity before treatment, the visual acuity of the two groups were both significantly improved(PPP>0.05. At 2mo after treatments, compared with those before treatments, the macular thickness of two groups were both significantly improved(PPCONCLUSION:The laser photocoagulation before cataract surgery for patients with cataract and diabetic macular edema can significantly improve their visual acuity and macular thickness.

Congenital insensitivity to pain: Case report of a rare entity

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Swati Dahiya

2018-01-01

Full Text Available Hereditary sensory and autonomic neuropathies (HSANs are a group of disorders characterized by insensitivity to noxious stimuli and autonomic dysfunction, associated with pathological abnormalities of the peripheral nerves. Five types of HSAN have been reported in literature, out of which Type V known as congenital insensitivity to pain (CIP is a rare autosomal recessive condition. Self-mutilation is an invariable feature of this disorder, involving the teeth and orofacial structures. This case report describes a case of a 6-year-old girl with CIP brought by her parents for prostheses to replace her self-extracted primary teeth.

Eliminating the barriers to uptake of cataract surgery in a resource ...

African Journals Online (AJOL)

2014-11-03

Nov 3, 2014 ... Direct surgical fee reduction alone caused only a modest increase in ... for reversing cataract blindness. ... of surgical fee reduction on cataract surgical uptake in a .... deploy the necessary resources and logistics for cataract.

Increasing sustainable cataract services in sub-Saharan Africa: an experimental initiative

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Sasipriya M Karumanchi

2015-04-01

Full Text Available To begin to meet the need for cataract surgery in sub-Saharan Africa, the cataract surgical rate (CSR should be at least 2,000 to 3,000; i.e. there should be 2,000-3,000 cataract operations per million population, per year. The current levels are below 1,000 (and often much lower. Sub-Saharan Africa poses a unique set of challenges: low population density; inadequate transportation systems that inhibit access; big differences in wealth; and a shortage of eye care resources (which are usually concentrated in larger cities. Additional issues relate to productivity, the supply chain and the quality of outcomes, all of which contribute to the low cataract surgical rates. It is in this context that the Hilton Foundation sought to enhance cataract surgical services in sub-Saharan Africa, through the Hilton Cataract Initiative.

Cataract Surgical Outreach in a Tertiary Hospital in Nigeria: An ...

African Journals Online (AJOL)

Odarosa M Uhumwangho

the University of Benin Teaching Hospital (UBTH), Benin City. ... There is a great need to improve access to eye care services in general and cataract surgical ... world.[1] In Nigeria, 42.9% of blindness is caused by cataract. [2] A large number of the cataract blind have not had surgery ..... Change the definition of blindness.

Visual field changes after cataract extraction: the AGIS experience.

Science.gov (United States)

Koucheki, Behrooz; Nouri-Mahdavi, Kouros; Patel, Gitane; Gaasterland, Douglas; Caprioli, Joseph

2004-12-01

To test the hypothesis that cataract extraction in glaucomatous eyes improves overall sensitivity of visual function without affecting the size or depth of glaucomatous scotomas. Experimental study with no control group. One hundred fifty-eight eyes (of 140 patients) from the Advanced Glaucoma Intervention Study with at least two reliable visual fields within a year both before and after cataract surgery were included. Average mean deviation (MD), pattern standard deviation (PSD), and corrected pattern standard deviation (CPSD) were compared before and after cataract extraction. To evaluate changes in scotoma size, the number of abnormal points (P < .05) on the pattern deviation plot was compared before and after surgery. We described an index ("scotoma depth index") to investigate changes of scotoma depth after surgery. Mean values for MD, PSD, and CPSD were -13.2, 6.4, and 5.9 dB before and -11.9, 6.8, and 6.2 dB after cataract surgery (P < or = .001 for all comparisons). Mean (+/- SD) number of abnormal points on pattern deviation plot was 26.7 +/- 9.4 and 27.5 +/- 9.0 before and after cataract surgery, respectively (P = .02). Scotoma depth index did not change after cataract extraction (-19.3 vs -19.2 dB, P = .90). Cataract extraction caused generalized improvement of the visual field, which was most marked in eyes with less advanced glaucomatous damage. Although the enlargement of scotomas was statistically significant, it was not clinically meaningful. No improvement of sensitivity was observed in the deepest part of the scotomas.

Congenital nephrogenic diabetes insipidus: the current state of affairs.

Science.gov (United States)

Wesche, Daniel; Deen, Peter M T; Knoers, Nine V A M

2012-12-01

The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia or hypernatremia, and regulates water reabsorption in the renal collecting duct principal cells. Binding of AVP to the arginine vasopressin receptor type 2 (AVPR2) in the basolateral membrane leads to translocation of aquaporin 2 (AQP2) water channels to the apical membrane of the collecting duct principal cells, inducing water permeability of the membrane. This results in water reabsorption from the pro-urine into the medullary interstitium following an osmotic gradient. Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. This review focuses on the current knowledge regarding the cell biological aspects of congenital X-linked, autosomal-recessive and autosomal-dominant NDI while specifically addressing the latest developments in the field. Based on deepened mechanistic understanding, new therapeutic strategies are currently being explored, which we also discuss here.

Cataract surgery in patients with ocular pseudoexpholiation.

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Petrovic, Mirjana Janicijevic; Vulovic, Tatjana Sarenac; Vulovic, Dejan; Janicijevic, Katarina; Petrovic, Marko; Vujic, Dragan

2013-01-01

Retrospective 5-year study based on general and ophthalmic history records, and including 268 eyes (174 patients), aged 50 years and over. Ophthalmological examination involved visual acuity, measuring of intraocular pressure, slit lamp examination and indirect ophthalmoscopy. Type of surgical treatment was tailored for each patient (extra capsular cataract extraction, phaco-emulsiphication). Preoperative slit lamp examination showed phacodonesis in 17.91% (47), iridodonesis in 2.98% (8), pigment dispersion in 6.72% (18), lens subluxation in 4.85% (13) on the total. Extra capsular cataract extraction was performed in 36.94% (99) and phaco-emulsiphication in the others. Analysis of intra operative complications showed: posterior capsular rupture 17.91% (48), zonular dialysis or break 5.97% (16), lens subluxation 1.86% (5), intraocular bleeding 2.98% (8), vitreous loss 13.80% (37). Postoperative complications include: anterior chamber reaction 45.90% (123), intraocular lens tilt 15.67% (42), endothelial decompensation 21.64% (58), subluxation/luxation IOL 3.73% (10), secondary cataract 21.46% (58), pigment dispersion 37.68% (101), increased IOP 13.80% (37), residual lens matter 13.80% (37), hyphema 3.73% (10), posterior synechiae 6.72% (18), iris prolapsus 2.73% (8). Cataract surgery in PES will frequently encounter small pupils, shallow anterior chambers, posterior adhesions, weak zonular support, partial subluxation or complete dislocation of lens. Authors presented the best possible approach on PES and surgical methods for patients with cataract with special accent of possible surgical complications.

Fluorometholone-induced cataract after photorefractive keratectomy.

Science.gov (United States)

Bilgihan, K; Gürelik, G; Akata, F; Hasanreisoglu, B

1997-01-01

The use of topical corticosteroids following photorefractive keratectomy (PRK) is widespread. The major complications of potent corticosteroids are glaucoma and cataract formation; in order to decrease these complications, 0.1% fluorometholone administration is usually preferred after PRK. We report here a case of lens opacification which was induced by 0.1% fluorometholone administration after PRK in a period of 4 months. To our knowledge, this is the first reported case of 0.1% fluorometholone-induced cataract after PRK.

Affordability of cataract surgery using the Big Mac prices

OpenAIRE

Van C. Lansingh; Marissa J. Carter; Kristen A. Eckert; Kevin L. Winthrop; João M. Furtado; Serge Resnikoff

2015-01-01

Purpose: One barrier to cataract surgery is its high price in some countries. This study aims to understand to what extent the price of cataract surgery is over- or undervalued and whether it varies in relation to GDP using The Economist newspaper Big Mac Index (BMcI) methodology, which measures the purchasing power parity between different currencies. Methods: Peer-reviewed articles containing information on cataract surgery prices were searched from 1993 to June 2012 in databases. Ophtha...

Visual Outcome of Cataract Surgery | Ukponmwan | Nigerian ...

African Journals Online (AJOL)

Purpose: To assess the visu al ou tcome of cataract su rgery in a tertiary hosp ital in Nigeria. Methods: Three hu nd red and seventy eyes (370) that had cataract su rgery in the op hthalmology d ep artment of University of Benin Teaching Hosp ital (UBTH) from July 2007 to December 2008 were includ ed in the stu d y.

retrobulbar versus sub-conjunctival anaesthesia for cataract surgery ...

African Journals Online (AJOL)

DDS EYE CENTER

Aim: To test the efficacy of subconjunctival anaesthesia (SCA) for cataract surgery against the established retrobulbar anaesthesia (RBA). Methods: This was a prospective study of 73 adults (44 males, 29 females) selected for cataract surgery and intraocular lens. (IOL) implants under local anaesthesia. Their ages ranged.

Disease: H01115 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01115 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) Polyneuropathy, hea...osomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigme...ring loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, aut

Evaluation of the Community Cataract Surgical Services of a ...

African Journals Online (AJOL)

Evaluation of the Community Cataract Surgical Services of a University Teaching Hospital Using Cataract Surgical Coverage in Nigeria. ... Ethiopian Journal of Health Sciences. Journal Home · ABOUT THIS JOURNAL · Advanced Search ...

Autofluorescence Imaging and Spectral-Domain Optical Coherence Tomography in Incomplete Congenital Stationary Night Blindness and Comparison with Retinitis Pigmentosa

Science.gov (United States)

CHEN, ROYCE W. S.; GREENBERG, JONATHAN P.; LAZOW, MARGOT A.; RAMACHANDRAN, RITHU; LIMA, LUIZ H.; HWANG, JOHN C.; SCHUBERT, CARL; BRAUNSTEIN, ALEXANDRA; ALLIKMETS, RANDO; TSANG, STEPHEN H.

2015-01-01

PURPOSE To test the hypothesis that the evaluation of retinal structure can have diagnostic value in differentiating between incomplete congenital stationary night blindness (CSNB2) and retinitis pigmentosa (RP). To compare retinal thickness differences between patients with CSNB2 and myopic controls. DESIGN Prospective cross-sectional study. METHODS Ten eyes of 5 patients diagnosed with CSNB2 (4 X-linked recessive, 1 autosomal recessive) and 6 eyes of 3 patients with RP (2 autosomal dominant, 1 autosomal recessive) were evaluated with spectral-domain optical coherence tomography (SD OCT) and fundus autofluorescence (FAF). Diagnoses of CSNB2 and RP were confirmed by full-field electroretinography (ERG). Manual segmentation of retinal layers, aided by a computer program, was performed by 2 professional segmenters on SD OCT images of all CSNB2 patients and 4 age-similar, normal myopic controls. Seven patients were screened for mutations with congenital stationary night blindness and RP genotyping arrays. RESULTS Patients with CSNB2 had specific findings on SD OCT and FAF that were distinct from those found in RP. CSNB2 patients showed qualitatively normal SD OCT results with preserved photoreceptor inner segment/outer segment junction, whereas this junction was lost in RP patients. In addition, CSNB2 patients had normal FAF images, whereas patients with RP demonstrated a ring of increased autofluorescence around the macula. On SD OCT segmentation, the inner and outer retinal layers of both X-linked recessive and autosomal recessive CSNB2 patients were thinner compared with those of normal myopic controls, with means generally outside of normal 95% confidence intervals. The only layers that demonstrated similar thickness between CSNB2 patients and the controls were the retinal nerve fiber layer and, temporal to the fovea, the combined outer segment layer and retinal pigment epithelium. A proband and his 2 affected brothers from a family segregating X-linked recessive

[Outcome of cataract surgery in patients with pigmentary retinal degeneration].

Science.gov (United States)

Grześk, Magdalena; Kałuzny, Józef; Malukiewicz-Wiśniewska, Grazyna

2007-01-01

To evaluate the results of cataract surgery in patients with RP because retinitis pigmentosa is one of the disease entities that belongs to tapeto-retinal degenerations. The occurrence of RP appearance is 1:4000 to 1:3000. Twenty patients with RP (7 women and 13 men, 33 eyes), who underwent cataract surgery were examined retrospectively. Average age in our group was 46.6 years. Visual acuity, intraocular pressure, slip lamp examination, fundus examination, cataract morphology, visual field were taken before surgery and on discharge, on the basis of medical documentation. Control examination was taken, on average, eighty one months after cataract surgery. Nine eyes were operated by phacoemulsification, 24 eyes by means of extracapsular cataract extraction. In the same way control group of 18 patients who underwent cataract surgery without RP (33 eyes) was examined. In RP group in 63.6% patients on discharge from the hospital and in 60.6% patients during the control examination, improvement of visual acuity was revealed. Deterioration was noted in 18.2% of patients on discharge from hospital and in 24.2% of patients during the control examination. In the control group improvement of visual acuity was revealed in 90.9% of patients on discharge and in 97% patients during the control examination, whereas deterioration of visual acuity occurred in 6.1% patients on discharge and in 3% patients during the check examination. In patients with retinitis pigmentosa cataract occurs earlier then in the control group. Cataract surgery for relatively minor opacities is beneficial in patients with RP, and causes improvement of visual acuity in most of eyes undergoing surgery.

cataract surgical services

African Journals Online (AJOL)

countries of Asia, Africa, and Latin. America (3,4). With an estimated 12,000 bilaterally blind people ... (OMA's). 1 general medical practitioner. Loptometry technician. 1 general nurse and. 3 health assistants. Ocular morbidities cataract and aphakia corneal scarring/phthisis glaucoma refractive errors others. Percent. 52.4.

[Analysis of cataract surgical rate and its influencing factors in Shanghai, China].

Science.gov (United States)

Zhu, Ming-ming; Zhu, Jian-feng; Zou, Hai-dong; He, Xian-gui; Zhao, Rong; Lu, Li-na

2013-12-17

To explore the cataract surgical rate (CSR) of Shanghai from 2006 to 2012 and examine its influencing factors. As of 2003, a cataract surgery registration form had been filled by physicians after every cataract surgery in Shanghai. The local eye disease prevention team then entered the relevant information into the Shanghai Cataract Operations Database. Based upon this database, CSR of Shanghai was calculated. And the number of cataract surgeries was compared between Shanghai urban and suburban districts as well as among different medical institutions. The overall CSR in Shanghai increased from 1741 in 2006 to 2313 in 2012. In 2012, CSR in urban districts reached 6013 while it stood at 460 and 584 in inner and outer suburb districts respectively. The number of hospitals performing cataract surgery in urban districts was much more than that in suburbs. And the average number of cataract surgeries per hospital per year in suburbs was only one third of that (748 cases) in urban areas. The number of cataract surgeries at in private hospitals increased rapidly during the past 7 years. The number of 1921 cases was nearly twice as many as that at tertiary hospitals in 2012. Phacoemulsification surgery was the most popular surgical choice for cataract removal, accounting for 98.40% of total cataract surgeries in 2012. Until 2012, CSR in Shanghai dropped below the target of World Health Organization (WHO). A low level of CSR in suburbs is a major influencing factor for the overall level of CSR in Shanghai.

[Congenital nephrogenic diabetes insipidus: about a case report].

Science.gov (United States)

Esselmani, Hicham; Yassine, Asmaa; Bouabdellah, Mounya; Benchekroun, Laila; Handor, Najat; Elalami, Sanae; Chabraoui, Layachi

2013-01-01

Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked. These forms are secondary to mutations in the gene encoding the vasopressin V2 receptor, located at position Xq28, responsible for a loss of function of this receptor. Some of these mutations may cause a partial phenotype, less severe. Forms of autosomal, recessive or dominant are more rare (10%). Treatment is symptomatic, sometimes difficult in infants. It aims to avoid episodes of dehydration. It is based on a conventional diet hypo-osmotic and administration of hydrochlorothiazide and indomethacin. We report here the case of a child with congenital nephrogenic diabetes insipidus hospitalized at Children's Hospital of Rabat and throughout this case we review the pathophysiology and clinical and biological characteristics of the disease and including importance of contribution of clinical biochemistry laboratory in the diagnosis and monitoring of this disease.

Barriers for recess physical activity

DEFF Research Database (Denmark)

Pawlowski, Charlotte Skau; Tjørnhøj-Thomsen, Tine; Schipperijn, Jasper

2014-01-01

BACKGROUND: Many children, in particular girls, do not reach the recommended amount of daily physical activity. School recess provides an opportunity for both boys and girls to be physically active, but barriers to recess physical activity are not well understood. This study explores gender...... differences in children's perceptions of barriers to recess physical activity. Based on the socio-ecological model four types of environmental barriers were distinguished: natural, social, physical and organizational environment. METHODS: Data were collected through 17 focus groups (at 17 different schools...... this study, we recommend promoting recess physical activity through a combination of actions, addressing barriers within the natural, social, physical and organizational environment....

Methylphenidate (Ritalin-associated Cataract and Glaucoma

Directory of Open Access Journals (Sweden)

Chao-Kung Lu

2006-12-01

Full Text Available Methylphenidate hydrochloride (Ritalin is the drug of choice for attention deficit hyperactivity disorder (ADHD. However, an association of Ritalin with glaucoma has been reported. We report a case of Ritalin-associated cataract and glaucoma. A 10-year-old boy was diagnosed with ADHD and had received methylphenidate hydrochloride, 60 mg/day for 2 years. He presented with blurred vision. Best-corrected visual acuity was 6/60 in both eyes. Ocular examinations revealed intraocular pressure (IOP of 30 mmHg under medication, dense posterior subcapsular opacity of lens, pale disc with advanced cupping, and marked constriction of visual field. Despite maximal anti-glaucomatous medication, IOP still could not be controlled. The patient then received combined cataract and glaucoma surgery. Visual acuity improved and IOP was within normal limits in both eyes postoperatively. Large dose of methylphenidate may cause cataract and glaucoma. The mechanism remains unclear. Doctors should be aware of the possible ocular side effects of methylphenidate.

Endothelial cell loss and refractive predictability in femtosecond laser-assisted cataract surgery compared with conventional cataract surgery

DEFF Research Database (Denmark)

Krarup, Therese; Holm, Lars Morten; la Cour, Morten

2014-01-01

and the contralateral eye operated by CPS (stop and chop technique). Both eyes had intraocular aspheric lenses implanted. Uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), central corneal endothelial cell count and hexagonality with a non-contact specular microscope were assessed......PURPOSE: To investigate the amount of endothelial cell loss (ECL) and refractive predictability by femtosecond laser-assisted cataract surgery (FLACS) compared to conventional phacoemulsification cataract surgery (CPS). METHODS: Forty-seven patients had one eye operated by FLACS...

Cataract and keratoconus: minimizing complications in intraocular lens calculations.

Science.gov (United States)

Bozorg, Sara; Pineda, Roberto

2014-01-01

Patients with both cataract and keratoconus present unique challenges for the surgeon. Accurate keratometry (K) and axial length (AL) readings may be impossible, and uncertainty is introduced when estimating the corneal power for intraocular lens (IOL) selection. Different options on how to choose an IOL and how to manage irregular astigmatism of a keratoconic patient with cataract have been proposed and are reviewed. The stage of keratoconus and the history of the patient are both critical in determining the strategy used in treatment of cataracts.

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Directory of Open Access Journals (Sweden)

Dirk J Lefeber

2011-12-01

Full Text Available Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 11 young patients (5-13 years with a predominant presentation of dilated cardiomyopathy (DCM. Metabolic investigations showed deficient protein N-glycosylation, leading to a diagnosis of Congenital Disorders of Glycosylation (CDG. Homozygosity mapping in the consanguineous families showed a locus with two known genes in the N-glycosylation pathway. In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families. In comparison with the generally multisystem presentation in CDG, the nonsyndromic DCM in several individuals was remarkable. Investigation of other dolichol-phosphate dependent glycosylation pathways in biopsied heart tissue indicated reduced O-mannosylation of alpha-dystroglycan with concomitant functional loss of its laminin-binding capacity, which has been linked to DCM. We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations.

Systemic aspirin and systemic vitamin E in senile cataracts : cataract V

Directory of Open Access Journals (Sweden)

Sharma Y

1989-01-01

Full Text Available We undertook a prospective study in senile cataract patients using systemic aspirin and systemic vitamin E. Vitamin E treated eyes did show less progression of PSC opacities extent and less new nuclear opacities during the follow-up, but overall vitamin E treated eyes did no better than the control group eyes. More eyes in systemic aspirin treated group maintained the initial vision and loss of vision in the aspirin group was also less marked. Aspirin also caused a significant less mean increase in cortical opacity extent, nuclear/opacity and density and PSC opacity extent and density as well as in ophthalmoscopically graded opacity extent and density. We suggest that aspirin is a potential drug which should be further evaluated in large double blind photodocumentated studies. The present data does not justify the recommendation that aspirin be prescribed for slowing down cataract progression. This must await large studies and confirmation.

[Incremental cost effectiveness of multifocal cataract surgery].

Science.gov (United States)

Pagel, N; Dick, H B; Krummenauer, F

2007-02-01

Supplementation of cataract patients with multifocal intraocular lenses involves an additional financial investment when compared to the corresponding monofocal supplementation, which usually is not funded by German health care insurers. In the context of recent resource allocation discussions, however, the cost effectiveness of multifocal cataract surgery could become an important rationale. Therefore an evidence-based estimation of its cost effectiveness was carried out. Three independent meta-analyses were implemented to estimate the gain in uncorrected near visual acuity and best corrected visual acuity (vision lines) as well as the predictability (fraction of patients without need for reading aids) of multifocal supplementation. Study reports published between 1995 and 2004 (English or German language) were screened for appropriate key words. Meta effects in visual gain and predictability were estimated by means and standard deviations of the reported effect measures. Cost data were estimated by German DRG rates and individual lens costs; the cost effectiveness of multifocal cataract surgery was then computed in terms of its marginal cost effectiveness ratio (MCER) for each clinical benefit endpoint; the incremental costs of multifocal versus monofocal cataract surgery were further estimated by means of their respective incremental cost effectiveness ratio (ICER). An independent meta-analysis estimated the complication profiles to be expected after monofocal and multifocal cataract surgery in order to evaluate expectable complication-associated additional costs of both procedures; the marginal and incremental cost effectiveness estimates were adjusted accordingly. A sensitivity analysis comprised cost variations of +/- 10 % and utility variations alongside the meta effect estimate's 95 % confidence intervals. Total direct costs from the health care insurer's perspective were estimated 3363 euro, associated with a visual meta benefit in best corrected visual

Nanotechnology for the Prevention and Treatment of Cataract.

Science.gov (United States)

Cetinel, Sibel; Montemagno, Carlo

2015-01-01

The purpose of this article was to review recent advances in the applications of nanotechnology in cataract treatment and prevention strategies. A literature review on the use of nanotechnology for the prevention and treatment of cataract was done. Research articles about nanotechnology-based treatments and prevention technologies for cataract were searched on Web of Science, and the most recent advances were reported. Nonsteroid anti-inflammatory drugs, natural antioxidants, biologic and chemical chaperones, and chaperones such as molecules have found great application in preventing and treating cataracts. Current scientific research on new treatment strategies, which focuses on the biochemical basis of the disease, will likely result in new anticataract agents. However, none of the drug formulations will be approved for use unless efficient delivery is promised. Nanoparticle engineering together with biomimetic strategies enable the development of next-generation, more efficient, less complex, and personalized treatments. The only currently available treatment for cataracts, surgical replacement of the opacified lens, is not an easily accessible option in developing countries. New treatment strategies based on topical drugs would enable treatment to reach massive populations facing the threat of blindness and more effectively deal with the postsurgical complications. Nanotechnology plays a key role in improving drug delivery systems with enhanced controlled release, targeted delivery, and bioavailability to overcome diffusion limitations in the eye.

The risk of cataract in relation to metal arc welding

DEFF Research Database (Denmark)

Slagor, Rebekka Michaelsen; Dornonville de la Cour, Morten; Bonde, Jens Peter

2016-01-01

.95–1.21] and the adjusted HR was 1.08 (95% CI 0.95–1.22). Age and diabetes were as expected strong risk factors. Conclusion: We found no increased risk of developing cataract among Danish metal welders who worked with arc welding from 1950–1985. This may be attributed to the effectiveness of personal safety equipment....... increases the risk of cataract. Method: We compared the risk of being diagnosed with cataract from 1987–2012 in a historic cohort of 4288 male metal arc welders against a reference group comprised of Danish skilled and unskilled male workers with similar age distribution. For the welders’ cohort...... adjusted for baseline data regarding age, diabetes, and social group. Results: There were 266 welders and 29 007 referents with a diagnosis and/or operation for cataract. The unadjusted HR for cataract comparing ever-welders with referents was 1.07 [95% confidence interval (95% CI) 0...

Risk Factors for Cataract After Palladium-103 Ophthalmic Plaque Radiation Therapy

International Nuclear Information System (INIS)

Finger, Paul T.; Chin, Kimberly J.; Yu Guopei; Patel, Neil S.

2011-01-01

Purpose: To examine how tumor characteristics and dose affect cataract development after plaque radiation therapy. Methods and Materials: Three hundred and eighty-four patients were diagnosed with uveal melanoma and treated with palladium-103 ( 103 Pd) plaque radiation therapy. Of these, 282 (74%) inclusion met exclusion criteria for follow-up time, tumor location, and phakic status. Then patient-, ophthalmic-, and radiation-specific factors (patient age, diabetes, hypertension, tumor location, tumor dimensions, and lens dose) were examined (by a Cox proportional regression model) as predictors for the development of radiation-related cataract. Results: Radiation cataract developed in 76 (24%) of patients at a mean follow-up of 39.8 months (range, 1-192). Patients with anteriorly located tumors were noted to have a higher incidence of cataract at 43.0% (43 of 100 patients) vs. 18.1% (33 cataracts per 182 patients) for posteriorly located tumors (p <0.0001). However, multivariate Cox proportional modeling showed that increasing patient age at time of treatment (p for trend = 0.0003) and higher lens dose (p for trend = 0.001) were the best predictors (biomarkers) for radiation cataract. Conclusions: Although anterior tumor location, greater tumor height, and increased patient age (at treatment) were associated with significantly greater risk for radiation cataract, dose to lens was the most significant factor.

[Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].

Science.gov (United States)

Morin, Denis

2014-12-01

Congenital nephrogenic diabetes insipidus is a rare hereditary disease with mainly an X-linked inheritance (90% of the cases) but there are also autosomal recessive and dominant forms. Congenital nephrogenic diabetes insipidus is characterized by a resistance of the renal collecting duct to the action of the arginine vasopressin hormone responsible for the inability of the kidney to concentrate urine. The X-linked form is due to inactivating mutations of the vasopressin 2 receptor gene leading to a loss of function of the mutated receptors. Affected males are often symptomatic in the neonatal period with a lack of weight gain, dehydration and hypernatremia but mild phenotypes may also occur. Females carrying the mutation may be asymptomatic but, sometimes, severe polyuria is found due to the random X chromosome inactivation. The autosomal recessive and dominant forms, occurring in both genders, are linked to mutations in the aquaporin-2 gene. The treatment remains difficult, especially in infants, and is based on a low osmotic diet with increased water intake and the use of thiazides and indomethacin. The main goal is to avoid hypernatremic episodes and maintain a good hydration state. Potentially, specific treatment, in some cases of X-linked congenital nephrogenic diabetes insipidus, with pharmacological chaperones such as non-peptide vasopressin-2 receptor antagonists will be available in the future. Conversely, the nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is linked to a constitutive activation of the V(2)-receptor due to activating mutations with clinical and biological features of inappropriate antidiuresis but with low or undetectable plasma arginine vasopressin hormone levels. Copyright © 2014 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

The Great Recession was not so Great

NARCIS (Netherlands)

van Ours, J.C.

2015-01-01

The Great Recession is characterized by a GDP-decline that was unprecedented in the past decades. This paper discusses the implications of the Great Recession analyzing labor market data from 20 OECD countries. Comparing the Great Recession with the 1980s recession it is concluded that there is a

Antimetabolites in cataract surgery to prevent failure of a previous trabeculectomy.

Science.gov (United States)

Thomas, Roger E; Crichton, Andrew; Thomas, Bennett C

2014-07-28

Patients having cataract surgery have often earlier undergone a trabeculectomy for glaucoma. However, cataract surgery may be associated with failure of the previous glaucoma surgery and antimetabolites may be used with cataract surgery to prevent such failure. There is no systematic review on whether antimetabolites with cataract surgery prevent failure of a previous trabeculectomy. To assess the effects of antimetabolites with cataract surgery on functioning of a previous trabeculectomy. We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (2014, Issue 5), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to June 2014), EMBASE (January 1980 to June 2014), Latin American and Caribbean Health Sciences Literature Database (LILACS) (January 1982 to June 2014), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov) and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 10 June 2014. We also searched the Science Citation Index database (July 2013) and reference lists of potentially relevant studies. Randomised controlled trials (RCTs) of antimetabolites with cataract surgery in people with a functioning trabeculectomy. Two review authors independently reviewed the titles and abstracts from the electronic searches. Two review authors independently assessed relevant full-text articles and entered data. We identified no RCTs to test the effectiveness of antimetabolites with cataract surgery in individuals with the intention of preventing failure of a previous trabeculectomy. There are no RCTs of antimetabolites with cataract surgery in people with a functioning trabeculectomy. Appropriately powered RCTs

Elemental distribution in frozen-hydrated rat lenses with galactose cataract

International Nuclear Information System (INIS)

Koyama-Ito, H.

1990-01-01

The elemental distributions in frozen-hydrated rat lenses with galactose cataract were compared before and after the onset of the nuclear cataract to investigate the possible role of ion levels in the lens opacification due to the phase separation of the lens cytoplasm. The maps of the weight concentrations of the minor elements, S, Cl, K and Ca, on the basis of wet weight in the central plane of lens were obtained by X-ray analysis with the high energy ion microprobe at a resolution of 50 microns. Before the onset of the nuclear cataract, the distributions of Cl and K, were almost normal, except in the lens posterior periphery with high Cl and low K. In the lens with the nuclear opacity, sudden changes were observed. The Cl increased throughout the lens, and K decreased throughout the lens except at lens anterior thin layer. However, the totalized monovalent ion level changed only slightly. The Ca level increased throughout the lens after the onset of the nuclear cataract, suggesting a possible role of Ca in the nuclear opacification of galactose cataract of rats. The distributions of S were similar to the protein density distributions previously known both in the normal and in the cataractous lenses

Cataract and its surgery in Fiji.

Science.gov (United States)

Brian, Garry; Ramke, Jacqueline; Szetu, John; Qoqonokana, Mundi Qalo

2011-07-01

To characterize cataract and its surgery among adults aged ≥40 years in Fiji. Population-based cross-sectional survey using multistage cluster random sampling. 1381 (= 73.0% participation); eight provinces on Viti Levu. Interview-based questionnaire; visual acuity measured; autorefraction; dilated ocular examination. Prevalence; predictors; surgical outcomes. Being Indian (P = 0.001), elderly (P Fiji population aged ≥40 years, prevalence of cataract-induced low vision and blindness were each 1.7% (95% confidence interval [CI] 1.0-2.4%). At least one eye of 4.6% and both of 1.8% participants had surgery (86.4% extracapsular). Gender (P = 0.213), age (P = 0.472) and rural/urban domicile (P = 0.895) were not predictors of surgery among those who required it in at least one eye. After intraocular lens surgery: 50.7% had pupillary posterior capsular opacification; mean spherical equivalent was -1.37 ± 1.95D (range, -6.38 to +2.25D); mean cylindrical error was 2.31 ± 1.75D (range, 0.0 to 8.75D); ≥N8 for 39.5%; ≥6/18 for 56.6%; Fiji population aged ≥40 years, Cataract Surgical Coverage (Person) was 47.5% (95%CI 29.2-65.8%) at Fiji cataract services and outcomes compare favourably with those of neighbouring Papua New Guinea and Timor Leste. © 2011 The Authors. Clinical and Experimental Ophthalmology © 2011 Royal Australian and New Zealand College of Ophthalmologists.

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome

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Abramowicz Marc

2008-10-01

Full Text Available Abstract Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2. Hearing deficit in Harboyan is slowly progressive and typically found in patients 10–25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan. All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma. Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and

Phacoemulsification of bilateral cataracts in two pet rabbits | Gomes ...

African Journals Online (AJOL)

Two 3 year-old, healthy, client-owned Lop rabbits presented with bilateral cataracts. After performing a physical examination, bloodwork, ocular ultrasonography and electroretinography, both animals were deemed good surgical candidates for phacoemulsification. Bilateral cataract surgery was performed and both rabbits ...

Clinical evaluation on the coaxial microincision cataract surgery in hard nuclear cataracts

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Qing-Cheng Shi

2013-05-01

Full Text Available AIM: To assess and compare the results of 2.2mm microincision coaxial cataract surgery(MCCSphacoemulsification with the conventional 3.0mm MCCS in hard nuclear cataracts. METHODS: Totally 132 eyes with hard cataract(Ⅳ level and abovewere randomized to two groups: 2.2mm MCCS(group 1:60 eyesand 3.0mm MCCS(group 2:72 eyes. All patients underwent standard phacoemulsification and intraocular lens implantation surgery by one experienced surgeon. The average ultrasound power(AVEwas recorded during the operation. The incidences of capsule rupture and postoperative corneal edema were compared.Visual acuity, surgically induced astigmatism(SIAand the descent rate of endothelial cell density were compared at intervals of 1 day, 1 month and 3 months after surgery. Statistic analysis was taken by Student's t test and Chi square test. RESULTS: There was no significant difference on the incidences of capsule rupture, postoperative corneal edema and AVE(P> 0.05between the two groups(3.3%, 10.0%, 65.09±20.15and(4.2%, 11.1%, 69.13±15.44. One day after the surgery, the 2.2mm MCCS group showed better uncorrected visual acuity as compared to the 3.0mm MCCS group(P < 0.05. There were no significant differences on best-corrected visual acuity on 1 month and 3 months after the surgery. There was no significant difference on the descent rate of endothelial cell density(16.54%±10.20%, 17.69%±10.65%3 months after the surgery. One day, 1 month and 3 months after the surgery, SIA was 0.77±0.31,0.66±0.29, 0.52±0.25D in the 2.2mm MCCS group, and 1.41±0.73,0.98±0.61D,0.82±0.35D in the 3.0mm MCCS group, respectively. The differences were statistically significant. CONCLUSION: The operative safety of the 2.2mm MCCS group were the same as 3.0mm MCCS group with the hard nuclear cataracts. The 2.2mm MCCS phacoemulsification could significantly reduce SIA and get better earlier visual rehabilitation.

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

OpenAIRE

Neuillé, Marion; El Shamieh, Said; Orhan, Elise; Michiels, Christelle; Antonio, Aline; Lancelot, Marie-Elise; Condroyer, Christel; Bujakowska, Kinga; Poch, Olivier; Sahel, José-Alain; Audo, Isabelle; Zeitz, Christina

2014-01-01

International audience; Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital stationary night blindness (cCSNB). The role of the corresponding protein in the ON-bipolar cell signaling cascade remains to be elucidated. Here we genetically and functionally characterize a commercially available Lrit3 knockout mouse, a model to study the function and the pathogenic mechanism of LRIT3. We confi...

Etiopathogenesis of presenile cataracts in Central Kerala: A cross-sectional observational study

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R Jyothi

2017-01-01

Conclusion: Apart from DM and atopy, the place of residence and occupation (and thus possibly exposure to ultraviolet radiations is also associated with the development of presenile cataract. Posterior subcapsular cataract is the most common type of presenile cataract in Central Kerala.

Non-invasive tryptophan fluorescence measurements as a novel method of grading cataract

DEFF Research Database (Denmark)

Erichsen, Jesper Høiberg; Mensah, Aurore; Kessel, Line

2017-01-01

. All cataracts were age-related. Lens material from 16 eyes of 14 patients was included in the study. Cataracts were preoperatively graded in categories 1, 2 and 3. No lenses were category 4. For nuclear cataracts mean values of F-factor were 52.9 (SD 12.2), 61.7 (SD 5.3) and 75.7 (SD 8.9......) for categories 1, 2 and 3 respectively. Linear regression on F-factor as a function of preoperative grading category showed increasing values of F-factor with increasing preoperative grading category, R2 = 0.515. Our experiment showed that preoperative optical grading of cataracts by Scheimpflug imaging may......Development of non-invasive treatments for cataract calls for a sensitive diagnostic assay. We conducted a study to test whether the ratio of folded tryptophan to non-tryptophan fluorescence emission (F-factor) may be used for grading cataracts in human lenses. The F-factor was measured...

Cataract surgery in a case of carotid cavernous fistula

Science.gov (United States)

Nair, Akshay Gopinathan; Praveen, Smita Vittal; Noronha, Veena Olma

2014-01-01

A carotid-cavernous fistula (CCF) is an abnormal communication between the cavernous sinus and the carotid arterial system. The ocular manifestations include conjunctival chemosis, proptosis, globe displacement, raised intraocular pressure and optic neuropathy. Although management of CCF in these patients is necessary, the ophthalmologist may also have to treat other ocular morbidities such as cataract. Cataract surgery in patients with CCF may be associated with many possible complications, including suprachoroidal hemorrhage. We describe cataract extraction surgery in 60-year-old female with bilateral spontaneous low-flow CCF. She underwent phacoemulsification via a clear corneal route under topical anesthesia and had an uneventful postoperative phase and recovered successfully. Given the various possible ocular changes in CCF, one must proceed with an intraocular surgery with caution. In this communication, we wish to describe the surgical precautions and the possible pitfalls in cataract surgery in patients with CCF. PMID:25370401

Evaluation of antioxidants and argpyrimidine in normal and cataractous lenses in north Indian population

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Bharani K Mynampati

2017-07-01

Full Text Available AIM: To assess the level of glutathione, thioltransferase, and argpyrimidine in nuclear and cortical cataractous lenses as well as in the clear lenses in the north Indian population. METHODS: Human cataractous lenses were collected from the patients who underwent extracapsular cataract extraction surgery; clear lenses were collected from the freshly donated eye bank eyes. Antioxidant molecules such as glutathione and thioltransferase enzyme activity were measured; simultaneously in these lenses a blue fluorophore argpyrimidine, an advanced glycation end (AGE product level was assessed using high performance liquid chromatography (HPLC. RESULTS: The protein concentration was found to be present at higher levels in the control lenses compared to cataract lenses. A significant decrease in the glutathione level was observed in the nuclear cataractous lenses compared to cortical cataractous (P=0.004 and clear lenses (P≤0.005, but no significant change in the level of antioxidant enzyme thioltransferase was observed. Further, argpyrimidine a blue fluorophore (AGE was found to be significantly higher in the nuclear cataract (P=0.013 compared to cortical cataract lenses. CONCLUSION: Antioxidants such as glutathione significantly decrease in age-related nuclear and cortical cataract and an AGE, argpyrimidine are present at significantly higher levels in nuclear cataract.

Mimicking cataract-induced visual dysfunction by means of protein denaturation in egg albumen

Science.gov (United States)

Mandracchia, B.; Finizio, A.; Ferraro, P.

2016-03-01

As the world's population ages, cataract-induced visual dysfunction and blindness is on the increase. This is a significant global problem. The most common symptoms of cataracts are glared and blurred vision. Usually, people with cataract have trouble seeing and reading at distance or in low light and also their color perception is altered. Furthermore, cataract is a sneaky disease as it is usually a very slow but progressive process, which creates adaptation so that patients find it difficult to recognize. All this can be very difficult to explain, so we built and tested an optical device to help doctors giving comprehensive answers to the patients' symptoms. This device allows visualizing how cataract impairs vision mimicking the optical degradation of the crystalline related cataracts. This can be a valuable optical tool for medical education as well as to provide a method to illustrate the patients how cataract progression process will affect their vision.

Immediately sequential bilateral cataract surgery: advantages and disadvantages.

Science.gov (United States)

Singh, Ranjodh; Dohlman, Thomas H; Sun, Grace

2017-01-01

The number of cataract surgeries performed globally will continue to rise to meet the needs of an aging population. This increased demand will require healthcare systems and providers to find new surgical efficiencies while maintaining excellent surgical outcomes. Immediately sequential bilateral cataract surgery (ISBCS) has been proposed as a solution and is increasingly being performed worldwide. The purpose of this review is to discuss the advantages and disadvantages of ISBCS. When appropriate patient selection occurs and guidelines are followed, ISBCS is comparable with delayed sequential bilateral cataract surgery in long-term patient satisfaction, visual acuity and complication rates. In addition, the risk of bilateral postoperative endophthalmitis and concerns of poorer refractive outcomes have not been supported by the literature. ISBCS is cost-effective for the patient, healthcare payors and society, but current reimbursement models in many countries create significant financial barriers for facilities and surgeons. As demand for cataract surgery rises worldwide, ISBCS will become increasingly important as an alternative to delayed sequential bilateral cataract surgery. Advantages include potentially decreased wait times for surgery, patient convenience and cost savings for healthcare payors. Although they are comparable in visual acuity and complication rates, hurdles that prevent wide adoption include liability concerns as ISBCS is not an established standard of care, economic constraints for facilities and surgeons and inability to fine-tune intraocular lens selection in the second eye. Given these considerations, an open discussion regarding the advantages and disadvantages of ISBCS is important for appropriate patient selection.

Clinical application of femtosecond laser assisted cataract surgery combined with triple-focus intraocular lens implantation in the treatment of cataract

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Qing-Song Gao

2018-02-01

Full Text Available AIM:To evaluate the effect of femtosecond laser assisted cataract surgery combined with triple-focus intraocular lens implantation in the treatment of cataract. METHODS: Totally 86 cases(106 eyesof patients with double cataract in our hospital from January 2016 to January 2017 were selected, including 49 cases(59 eyeswere set as the observation group(treated with femtosecond laser assisted phacoemulsification combined with triple-focus intraocular lens implantation, and 37 cases(47 eyeswere set as the control group(received traditional phacoemulsification combined with triple-focus intraocular lens implantation. Corneal endothelial cell density, cumulative dissipated energy(CDE, distant and near visual accommodation before and after operation were compared between the two groups, postoperative complications were observed. RESULTS: The preoperative corneal endothelial cell density of two groups had no significant difference(P>0.05. The corneal endothelial cell density of two groups significantly decreased at postoperative 1wk, with statistic significance within groups(PPPPPP>0.05. The incidence of glare and halo in the observation group was 10.2% and 8.5% in the control group, and are in the patients whose age was above 60 years old, there was no significant difference between the two groups(P>0.05. CONCLUSION: Femtosecond laser assisted cataract surgery combined with triple-focus intraocular lens implantation in the treatment of cataract can not only improve curative effect, but also provide high safety, while the adverse events including glare, halo and other adverse visual circumstances should be considered after triple-focus intraocular lens implantation.

[Computer-assisted phacoemulsification for hard cataracts].

Science.gov (United States)

Zemba, M; Papadatu, Adriana-Camelia; Sîrbu, Laura-Nicoleta; Avram, Corina

2012-01-01

to evaluate the efficiency of new torsional phacoemulsification software (Ozil IP system) in hard nucleus cataract extraction. 45 eyes with hard senile cataract (degree III and IV) underwent phacoemulsification performed by the same surgeon, using the same technique (stop and chop). Infiniti (Alcon) platform was used, with Ozil IP software and Kelman phaco tip miniflared, 45 degrees. The nucleus was split into two and after that the first half was phacoemulsificated with IP-on (group 1) and the second half with IP-off (group 2). For every group we measured: cumulative dissipated energy (CDE), numbers of tip closure that needed manual desobstruction the amount of BSS used. The mean CDE was the same in group 1 and in group 2 (between 6.2 and 14.9). The incidence of occlusion that needed manual desobstruction was lower in group 1 (5 times) than in group 2 (13 times). Group 2 used more BSS compared to group 1. The new torsional software (IP system) significantly decreased occlusion time and balanced salt solution use over standard torsional software, particularly with denser cataracts.

Reprint of: Relationship between cataract severity and socioeconomic status.

Science.gov (United States)

Wesolosky, Jason D; Rudnisky, Christopher J

2015-06-01

To determine the relationship between cataract severity and socioeconomic status (SES). Retrospective, observational case series. A total of 1350 eyes underwent phacoemulsification cataract extraction by a single surgeon using an Alcon Infiniti system. Cataract severity was measured using phaco time in seconds. SES was measured using area-level aggregate census data: median income, education, proportion of common-law couples, and employment rate. Preoperative best corrected visual acuity was obtained and converted to logarithm of the minimum angle of resolution values. For patients undergoing bilateral surgery, the generalized estimating equation was used to account for the correlation between eyes. Univariate analyses were performed using simple regression, and multivariate analyses were performed to account for variables with significant relationships (p < 0.05) on univariate testing. Sensitivity analyses were performed to assess the effect of including patient age in the controlled analyses. Multivariate analyses demonstrated that cataracts were more severe when the median income was lower (p = 0.001) and the proportion of common-law couples living in a patient's community (p = 0.012) and the unemployment rate (p = 0.002) were higher. These associations persisted even when controlling for patient age. Patients of lower SES have more severe cataracts. Copyright © 2015. Published by Elsevier Inc.

Cataract after total body irradiation and bone marrow transplantation degree of visual impairment

International Nuclear Information System (INIS)

Kempen-Harteveld, M. Loes van; Struikmans, Henk; Kal, Henk B.; Tweel, Ingeborg van der; Mourits, Maarten P.; Verdonck, Leo F.; Schipper, Jan; Battermann, Jan J.

2002-01-01

Purpose: To assess the degree of visual impairment as a result of cataract formation after total body irradiation (TBI) for bone marrow transplantation. Methods and Materials: The data from 93 patients who received TBI in 1 or 2 fractions as a part of their conditioning regimen for bone marrow transplantation were analyzed with respect to the degree of visual impairment as a result of cataract formation. The probability to develop severe visual impairment (SVI) was determined for all patients, and the degree of visual impairment was assessed for 56 patients with stabilized cataract, using three categories: no, mild, or severe. Results: For all 93 patients, the probability of developing a cataract causing SVI was 0.44. For allogeneic patients, it was 0.33 without and 0.71 with steroid treatment (p<0.001). All SVI-free probability curves reached a plateau distinct from the cataract-free curves. Apparently, cataracts developing late in the follow-up period rarely cause SVI. Of the patients with stabilized cataract, 32% had no visual impairment, 16% had mild, and 52% severe impairment. No or mild visual impairment was present in 61% of all patients with stable cataract and no steroid treatment compared with only 13% of the patients treated with steroids (p=0.035). Conclusion: SVI occurs in only some of the patients (52%) with stable cataract after TBI for bone marrow transplantation in 1 or 2 fractions. Steroid treatment markedly increases the probability of developing visual problems as result of a cataract after TBI

Congenital insensitivity to pain and anhidrosis: A case report from South India

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Carounanidy Udayashankar

2012-01-01

Full Text Available Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia, mental retardation, and self-mutilating behavior. It is an extremely rare disorder with only a handful of reports from India. A five- year- old boy, born to second-degree consanguineous parents after uneventful antenatal period, presented to us with history of recurrent unexplained fever, recurrent ulcers in the lower limbs, insensitivity to painful stimuli (like injections, vaccination and self-mutilating behavior from early childhood. Cutaneous examination showed multiple ulcers, loss of teeth, loss of tip of the tongue (due to biting, scarring of finger tips, xerosis and lichenification. Sensory examination showed complete loss of pain and temperature sensations, but fine touch and vibration were preserved. Deep tendon reflexes were normal. Evaluation for Hansen′s disease was non-contributory. An intradermal injection of histamine did not show any flare response. Based on clinical as well as compatible histological features a diagnosis of congenital insensitivity to pain with anhidrosis was made. The ulcers were treated with appropriate antibiotics and daily dressings. The parents were counseled about appropriate care of the child.

Effect of hesperetin on chaperone activity in selenite-induced cataract

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Nakazawa Yosuke

2016-01-01

Full Text Available Background. Chaperone activity of α-crystallin in the lens works to prevent protein aggregation and is important to maintain the lens transparency. This study evaluated the effect of hesperetin on lens chaperone activity in selenite-induced cataracts. Methodology. Thirteen-day-old rats were divided into four groups. Animals were given hesperetin (groups G2 and G4 or vehicle (G1 and G3 on Days 0, 1, and 2. Rats in G3 and G4 were administered selenite subcutaneously 4 hours after the first hesperetin injection. On Days 2, 4, and 6, cataract grades were evaluated using slit-lamp biomicroscopy. The amount of a-crystallin and chaperone activity in water-soluble fraction were measured after animals sacrificed. Results. G3 on day 4 had developed significant cataract, as an average cataract grading of 4.6 ± 0.2. In contrast, G4 had less severe central opacities and lower stage cataracts than G3, as an average cataract grading of 2.4 ± 0.4. The a-crystallin levels in G3 lenses were lower than in G1, but the same as G4. Additionally, chaperone activity was weaker in G3 lenses than G1, but the same as in G4. Conclusions. Our results suggest that hesperetin can prevent the decreasing lens chaperone activity and a-crystallin water solubility by administered of selenite.

The aqueous humour antioxidative capacity in different types and color of the age-related cataract

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Žorić Lepša

2005-01-01

Full Text Available Background/Aim. Oxidative stress results from increased oxidative processes, decreased antioxidative protection, or both processes simultaneously. Photooxidative stress, as a form of oxidative stress, induced by the energy of solar radiation, today is considered as crucial in the age-related cataractogenesis. Other known and unknown, endogenous and egsogenous factors that contribute to the oxidative stress intensity, can influence the cataract type and brunescence. Thus the oxidative stress intensity and its form might determine the cataract type and brunescence, and also make the efforts in cataract prevention more complex. Hence, the objective of the present paper was to investigate the current amount of antioxidative capacity in aqueous humour during the cataract genesis of different types and pigmentation of cataract. Methods. Transversal review of 80 samples of humour aqueous obtained during extracapsular cataract extraction. Aqueouses were analyzed by tiobarbituric acid (TBA method for the total antioxidant activity estimation, expressed as %iMDA, and by using 0.1 ml of aqueous. Results. The mixed type of cataract showed the statistically significantly lower values of the intensities of antioxidative protection in aqueous humour compared to cortical and nuclear cataracts (p < 0.001, respectively. Between pure nuclear and cortical cataracts we found the small differences of the investigated parameter, but they pointed to the decreased level of antioxidative protection, i.e. the increased intensity of the aqueous humour oxidative stress in the cortical cataract type. A significant correlation between the cortical cataract maturation and the %iMDA (p < 0.05 was found. Conclusions. The role of the oxidative stress, here expressed as the antioxidative capacity of aqueous humour, could not be the same for all the cataract types. The lower level of antioxidative protection of aqueous in brunescent and mixed cataracts may point to the higher

Visual outcome after cataract surgery at the University College ...

African Journals Online (AJOL)

Aim: The aim of this study was to determine the visual outcome of patients who had cataract surgery in the University College Hospital Ibadan. Methodology: This is an observational descriptive, longitudinal study of consecutive patients undergoing cataract surgery at the University College Hospital conducted between May ...

Cataract influence on iris recognition performance

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Trokielewicz, Mateusz; Czajka, Adam; Maciejewicz, Piotr

2014-11-01

This paper presents the experimental study revealing weaker performance of the automatic iris recognition methods for cataract-affected eyes when compared to healthy eyes. There is little research on the topic, mostly incorporating scarce databases that are often deficient in images representing more than one illness. We built our own database, acquiring 1288 eye images of 37 patients of the Medical University of Warsaw. Those images represent several common ocular diseases, such as cataract, along with less ordinary conditions, such as iris pattern alterations derived from illness or eye trauma. Images were captured in near-infrared light (used in biometrics) and for selected cases also in visible light (used in ophthalmological diagnosis). Since cataract is a disorder that is most populated by samples in the database, in this paper we focus solely on this illness. To assess the extent of the performance deterioration we use three iris recognition methodologies (commercial and academic solutions) to calculate genuine match scores for healthy eyes and those influenced by cataract. Results show a significant degradation in iris recognition reliability manifesting by worsening the genuine scores in all three matchers used in this study (12% of genuine score increase for an academic matcher, up to 175% of genuine score increase obtained for an example commercial matcher). This increase in genuine scores affected the final false non-match rate in two matchers. To our best knowledge this is the only study of such kind that employs more than one iris matcher, and analyzes the iris image segmentation as a potential source of decreased reliability

Operating Room Performance Improves after Proficiency-Based Virtual Reality Cataract Surgery Training

DEFF Research Database (Denmark)

Thomsen, Ann Sofia Skou; Bach-Holm, Daniella; Kjærbo, Hadi

2017-01-01

PURPOSE: To investigate the effect of virtual reality proficiency-based training on actual cataract surgery performance. The secondary purpose of the study was to define which surgeons benefit from virtual reality training. DESIGN: Multicenter masked clinical trial. PARTICIPANTS: Eighteen cataract...... surgeons with different levels of experience. METHODS: Cataract surgical training on a virtual reality simulator (EyeSi) until a proficiency-based test was passed. MAIN OUTCOME MEASURES: Technical performance in the operating room (OR) assessed by 3 independent, masked raters using a previously validated...... task-specific assessment tool for cataract surgery (Objective Structured Assessment of Cataract Surgical Skill). Three surgeries before and 3 surgeries after the virtual reality training were video-recorded, anonymized, and presented to the raters in random order. RESULTS: Novices (non...

The value of serial personal photographs in timing the onset of unilateral cataracts in children.

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Sawhney, Gagan K; Hutchinson, Amy K; Lambert, Scott R

2009-10-01

To determine the value of serial personal photographs in timing the onset of unilateral cataracts in children over 6 months of age. Personal photographs from children with unilateral cataracts who underwent cataract extraction and intraocular lens implantation when > or =6 months of age were reviewed. Photographs were evaluated for changes in the red reflex, which might indicate the presence of a cataract. Twelve children underwent cataract surgery at a mean age of 37 months. They were followed for a mean of 32 months. Ten children were diagnosed as having an acquired cataract by photographic review documenting a previously normal red reflex. The visual acuity in the affected eye of 4 of these children improved to > or =20/60. Cataracts were visible on photographs prior to clinical diagnosis in 6 patients, from 0.5 to 22 months prior to clinical diagnosis. Visual outcomes did not relate closely to the photographically documented duration of the cataract prior to treatment. Photographs were not helpful in timing the onset of cataract in 2 children due to the poor quality of the images. Serial personal photographs are sometimes helpful in determining whether cataracts are acquired. However, the usefulness of personal photographs alone in predicting the visual outcome after cataract surgery was limited in this small, retrospective study.

Femtosecond laser cataract surgery: technology and clinical practice.

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Roberts, Timothy V; Lawless, Michael; Chan, Colin Ck; Jacobs, Mark; Ng, David; Bali, Shveta J; Hodge, Chris; Sutton, Gerard

2013-03-01

The recent introduction of femtosecond lasers to cataract surgery has generated much interest among ophthalmologists around the world. Laser cataract surgery integrates high-resolution anterior segment imaging systems with a femtosecond laser, allowing key steps of the procedure, including the primary and side-port corneal incisions, the anterior capsulotomy and fragmentation of the lens nucleus, to be performed with computer-guided laser precision. There is emerging evidence of reduced phacoemulsification time, better wound architecture and a more stable refractive result with femtosecond cataract surgery, as well as reports documenting an initial learning curve. This article will review the current state of technology and discuss our clinical experience. © 2012 The Authors. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists.

Cataract surgical rate in Yemen: 2012

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Saleh A. Al-Akily

2017-01-01

Conclusion: CSR has increased in Yemen in the recent years but is still below the target suggested by WHO. There is need to increase the cataract surgical rate in Yemen mainly in rural areas. Inadequate number of eye surgeons, limited accessibility of cataract surgical services in rural areas and the affordability of surgery to large sections of society are major constraints that have to be addressed. The information from this study will help and enable Ministry of Health and other eye care providers to more equitably disperse trained ophthalmic personnel and eye units in Yemeni governorates.

Waiting time for cataract surgery and its influence on patient attitudes.

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Chan, Frank Wan-kin; Fan, Alex Hoi; Wong, Fiona Yan-yan; Lam, Philip Tsze-ho; Yeoh, Eng-kiong; Yam, Carrie Ho-kwan; Griffiths, Sian; Lam, Dennis Shun-chiu; Congdon, Nathan

2009-08-01

To characterize willingness to pay for private operations and preferred waiting time among patients awaiting cataract surgery in Hong Kong. This was a cross-sectional survey. Subjects randomly selected from cataract surgical waiting lists in Hong Kong (n = 467) underwent a telephone interview based on a structured, validated questionnaire. Data were collected on private insurance coverage, preferred waiting time, amount willing to pay for surgery, and self-reported visual function and health status. Among 300 subjects completing the interview, 144 (48.2%) were 76 years of age or older, 177 (59%) were women, and mean time waiting for surgery was 17 +/- 15 months. Among 220 subjects (73.3%) willing to pay anything for surgery, the mean amount was US$552 +/- 443. With adjustment for age, education, and monthly household income, subjects willing to pay anything were less willing to wait 12 months for surgery (OR = 4.34; P = 0.002), more likely to know someone having had cataract surgery (OR = 2.20; P = 0.03), and more likely to use their own savings to pay for the surgery (OR = 2.21; P = 0.04). Subjects considering private cataract surgery, knowing people who have had cataract surgery, using nongovernment sources to pay for surgery, and having lower visual function were willing to pay more. Many patients wait significant periods for cataract surgery in Hong Kong, and are willing to pay substantial amounts for private operations. These results may have implications for other countries with cataract waiting lists.

Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

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Cohen, J; Schanen, N C

2000-01-01

The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

Combined Cataract and Glaucoma Surgery: An assessment of 68 ...

African Journals Online (AJOL)

Objective: To assess the best corrected visual acuity and average intraocular pressure at 6 months and one (1) year in patients with cataracts in glaucoma that had combined trabeculectomy and cataract surgery with lens implantation. Methods: A retrospective review of the case notes of patients who underwent combined ...

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.

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J Pedro Fernández-Murray

2016-01-01

Full Text Available Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutations in the SLC25A38 gene. The current treatment for SLC25A38 congenital sideroblastic anemia is chronic blood transfusion coupled with iron chelation. The function of SLC25A38 is not known. Here we report that the SLC25A38 protein, and its yeast homolog Hem25, are mitochondrial glycine transporters required for the initiation of heme synthesis. To do so, we took advantage of the fact that mitochondrial glycine has several roles beyond the synthesis of heme, including the synthesis of folate derivatives through the glycine cleavage system. The data were consistent with Hem25 not being the sole mitochondrial glycine importer, and we identify a second SLC25 family member Ymc1, as a potential secondary mitochondrial glycine importer. Based on these findings, we observed that high levels of exogenous glycine, or 5-aminolevulinic acid (5-Ala a metabolite downstream of Hem25 in heme biosynthetic pathway, were able to restore heme levels to normal in yeast cells lacking Hem25 function. While neither glycine nor 5-Ala could ameliorate SLC25A38 congenital sideroblastic anemia in a zebrafish model, we determined that the addition of folate with glycine was able to restore hemoglobin levels. This difference is likely due to the fact that yeast can synthesize folate, whereas in zebrafish folate is an essential vitamin that must be obtained exogenously. Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia.

Emerging issues in radiogenic cataracts and cardiovascular disease

International Nuclear Information System (INIS)

Hamada, Nobuyuki; Fujimichi, Yuki; Iwasaki, Toshiyasu; Nomura, Takaharu; Fujii, Noriko; Furuhashi, Masato; Kubo, Eri; Minamino, Tohru; Sato, Hitoshi

2014-01-01

In 2011, the International Commission on Radiological Protection issued a statement on tissue reactions (formerly termed non-stochastic or deterministic effects) to recommend lowering the threshold for cataracts and the occupational equivalent dose limit for the crystalline lens of the eye. Furthermore, this statement was the first to list circulatory disease (cardiovascular and cerebrovascular disease) as a health hazard of radiation exposure and to assign its threshold for the heart and brain. These changes have stimulated various discussions and may have impacts on some radiation workers, such as those in the medical sector. This paper considers emerging issues associated with cataracts and cardiovascular disease. For cataracts, topics dealt with herein include (1) the progressive nature, stochastic nature, target cells and trigger events of lens opacification, (2) roles of lens protein denaturation, oxidative stress, calcium ions, tumor suppressors and DNA repair factors in cataractogenesis, (3) dose rate effect, radiation weighting factor, and classification systems for cataracts, and (4) estimation of the lens dose in clinical settings. Topics for cardiovascular disease include experimental animal models, relevant surrogate markers, latency period, target tissues, and roles of inflammation and cellular senescence. Future research needs are also discussed. (author)

Evaluation of advanced glycation end-products in diabetic and inherited canine cataracts.

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Bras, I Dineli; Colitz, Carmen M H; Kusewitt, Donna F; Chandler, Heather; Lu, Ping; Gemensky-Metzler, Anne J; Wilkie, David A

2007-02-01

The receptor for advanced glycation end-products (RAGE) increases in the human cataract and should correlate with increased DNA damage and proliferation of lens epithelial cells (LECs). The purpose of this study was to measure and immunolocalize RAGE in normal and cataractous canine LECs, and to determine whether there was a correlation between RAGE and DNA damage (gadd45), cell-cycle regulation (p21), and LEC proliferation (proliferating cell nuclear antigen, PCNA). Thirty-two anterior lens capsules from 22 dogs that underwent cataract surgery and 10 lenses from dogs with normal eyes were evaluated. Eleven of the cataractous lenses were from diabetic patients (n=16), and eleven were from patients with inherited cataracts (n=16). Standard immunohistochemical staining was performed using antibodies against RAGE, gadd45, p21, PCNA, alpha-smooth muscle actin, and TGF-beta. Immunostaining intensity for each antibody was given a score of 0-4+. Standard Western blot analysis on normal and cataractous lens capsules was performed using the same antibodies as in the immunohistochemical staining. Comparisons were also made based on age and sex. Real-time reverse transcriptase-polymerase chain reaction (qRT-PCR) was performed for RAGE. There was an increase in RAGE expression with age in normal LECs, but no significant difference was seen when normal adult LECs were compared to cataractous LECs. The stage of the cataract and the presence of LIU were not associated with a significant increase in RAGE expression. There was no age-dependent difference in the normal lenses for gadd45, p21, or PCNA. Significant up-regulation of p21 (P RAGE and PCNA expression did not increase with cataractogenesis, possibly due to overexpression associated with normal aging and constant exposure to oxidative stress from sunlight-related ultraviolet irradiation, respectively. However, p21 and PCNA increased in diabetic cataractogenesis suggesting cell cycle and proliferation dysregulation. This may

An Internal Disulfide Locks a Misfolded Aggregation-prone Intermediate in Cataract-linked Mutants of Human γD-Crystallin.

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Serebryany, Eugene; Woodard, Jaie C; Adkar, Bharat V; Shabab, Mohammed; King, Jonathan A; Shakhnovich, Eugene I

2016-09-02

Considerable mechanistic insight has been gained into amyloid aggregation; however, a large number of non-amyloid protein aggregates are considered "amorphous," and in most cases, little is known about their mechanisms. Amorphous aggregation of γ-crystallins in the eye lens causes cataract, a widespread disease of aging. We combined simulations and experiments to study the mechanism of aggregation of two γD-crystallin mutants, W42R and W42Q: the former a congenital cataract mutation, and the latter a mimic of age-related oxidative damage. We found that formation of an internal disulfide was necessary and sufficient for aggregation under physiological conditions. Two-chain all-atom simulations predicted that one non-native disulfide in particular, between Cys(32) and Cys(41), was likely to stabilize an unfolding intermediate prone to intermolecular interactions. Mass spectrometry and mutagenesis experiments confirmed the presence of this bond in the aggregates and its necessity for oxidative aggregation under physiological conditions in vitro Mining the simulation data linked formation of this disulfide to extrusion of the N-terminal β-hairpin and rearrangement of the native β-sheet topology. Specific binding between the extruded hairpin and a distal β-sheet, in an intermolecular chain reaction similar to domain swapping, is the most probable mechanism of aggregate propagation. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

An Internal Disulfide Locks a Misfolded Aggregation-prone Intermediate in Cataract-linked Mutants of Human γD-Crystallin*

Science.gov (United States)

Serebryany, Eugene; Woodard, Jaie C.; Adkar, Bharat V.; Shabab, Mohammed; King, Jonathan A.; Shakhnovich, Eugene I.

2016-01-01

Considerable mechanistic insight has been gained into amyloid aggregation; however, a large number of non-amyloid protein aggregates are considered “amorphous,” and in most cases, little is known about their mechanisms. Amorphous aggregation of γ-crystallins in the eye lens causes cataract, a widespread disease of aging. We combined simulations and experiments to study the mechanism of aggregation of two γD-crystallin mutants, W42R and W42Q: the former a congenital cataract mutation, and the latter a mimic of age-related oxidative damage. We found that formation of an internal disulfide was necessary and sufficient for aggregation under physiological conditions. Two-chain all-atom simulations predicted that one non-native disulfide in particular, between Cys32 and Cys41, was likely to stabilize an unfolding intermediate prone to intermolecular interactions. Mass spectrometry and mutagenesis experiments confirmed the presence of this bond in the aggregates and its necessity for oxidative aggregation under physiological conditions in vitro. Mining the simulation data linked formation of this disulfide to extrusion of the N-terminal β-hairpin and rearrangement of the native β-sheet topology. Specific binding between the extruded hairpin and a distal β-sheet, in an intermolecular chain reaction similar to domain swapping, is the most probable mechanism of aggregate propagation. PMID:27417136

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

Science.gov (United States)

Brooks, Simon; Ebenezer, Neil; Poopalasundaram, Subathra; Maher, Eamonn; Francis, Peter; Moore, Anthony; Hardcastle, Alison

2004-06-01

The X-linked congenital cataract (CXN) locus has been mapped to a 3-cM (approximately 3.5 Mb) interval on chromosome Xp22.13, which is syntenic to the mouse cataract disease locus Xcat and encompasses the recently refined Nance-Horan syndrome (NHS) locus. A positional cloning strategy has been adopted to identify the causative gene. In an attempt to refine the CXN locus, seven microsatellites were analysed within 21 individuals of a CXN family. Haplotypes were reconstructed confirming disease segregation with markers on Xp22.13. In addition, a proximal cross-over was observed between markers S3 and S4, thereby refining the CXN disease interval by approximately 400 Kb to 3.2 Mb, flanked by markers DXS9902 and S4. Two known genes (RAI2 and RBBP7) and a novel gene (TL1) were screened for mutations within an affected male from the CXN family and an NHS family by direct sequencing of coding exons and intron- exon splice sites. No mutations or polymorphisms were identified, therefore excluding them as disease-causative in CXN and NHS. In conclusion, the CXN locus has been successfully refined and excludes PPEF1 as a candidate gene. A further three candidates were excluded based on sequence analysis. Future positional cloning efforts will focus on the region of overlap between CXN, Xcat, and NHS.

Effects of two antioxidants; α-lipoic acid and fisetin against diabetic cataract in mice.

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Kan, Emrah; Kiliçkan, Elif; Ayar, Ahmet; Çolak, Ramis

2015-02-01

The purpose of this study was to determine whether α-lipoic acid and fisetin have protective effects against cataract in a streptozotocin-induced experimental cataract model. Twenty-eight male BALB/C mice were made diabetic by the intraperitoneal administration of streptozotocin (200 mg/kg). Three weeks after induction of diabetes, mice were divided randomly into 4 groups in which each group contained 7 mice; fisetin-treated group (group 1), α-lipoic acid-treated group (group 2), fisetin placebo group (group 3), α-lipoic acid placebo group (group 4). Fisetin and α-lipoic acid were administered intraperitoneally weekly for 5 weeks. Cataract development was assessed at the end of 8 weeks by slit lamp examination, and cataract formation was graded using a scale. All groups developed at least grade 1 cataract formation. In the fisetin-treated group, the cataract stages were significantly lower than in the placebo group (p = 0.02). In the α-lipoic acid-treated group, the cataract stages were lower than in the placebo group but it did not reach to a significant value. Both fisetin and α-lipoic acid had a protective effect on cataract development in a streptozotocin-induced experimental cataract model. The protective effect of fisetin appears as though more effective than α-lipoic acid.

Residual symptoms after surgery for unilateral congenital superior oblique palsy.

Science.gov (United States)

Caca, Ihsan; Sahin, Alparslan; Cingu, Abdullah; Ari, Seyhmus; Akbas, Umut

2012-01-01

To establish the surgical results and residual symptoms in 48 cases with unilateral congenital superior oblique muscle palsy that had surgical intervention to the vertical muscles alone. Myectomy and concomitant disinsertion of the inferior oblique (IO) muscle was performed in 38 cases and myectomy and concomitant IO disinsertion and recession of the superior rectus muscle in the ipsilateral eye was performed in 10 cases. The preoperative and postoperative vertical deviation values and surgical results were compared. Of the patients who had myectomy and concomitant IO disinsertion, 74% achieved an "excellent" result, 21% a "good" result, and 5% a "poor" result postoperatively. The difference in deviation between preoperative and postoperative values was statistically significant (P < .001). Of the patients who had myectomy and concomitant inferior oblique disinsertion and ipsilateral superior rectus recession, 50% achieved an "excellent" result, 20% a "good" result, and 30% a "poor" result postoperatively. The difference in deviation between preoperative and postoperative values was statistically significant (P < .001). Both procedures are effective and successful in patients with superior oblique muscle palsy, but a secondary surgery may be required. Copyright 2012, SLACK Incorporated.

Phacoemulsification in eyes with cataract and pseudoexfoliation syndrome

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Servet Cetinkaya

2016-06-01

Full Text Available AIM: To evaluate the visual outcomes and intraoperative and postoperative complications of phacoemulsification surgery in patients with cataract and pseudoexfoliation syndrome(PEXand the usage of proper surgical techniques and appropriate devices intraoperatively.METHODS: Sixty-seven eyes of 53 patients with PEX and cataract who had undergone phacoemulsification and intraocular lens(IOLimplantation surgery were evaluated retrospectively. The mean age was 71.68±9.96(53-89y, and there were 24(45%males and 29(55%females. Nuclear, cortical, posterior subcapsular, and mature cataracts were all represented.RESULTS: Nuclear cataract was significantly more common than other types(P=0.00. The mean preoperative best corrected visual acuity(BCVAwas 0.99±0.30(SD(0.40-1.50logMAR, and the mean postoperative BCVA was 0.32±0.31(SD(0.00-1.00logMAR(P=0.00. Iris retractors were used in 12(18%eyes. Capsular tension ring(CTRimplantation was used in 15(22%eyes, it was planned in 8(12%and unplanned in 7(10%. Posterior capsule rupture occurred in 4(6%eyes, and vitreous loss occurred in 2(3%eyes. Anterior vitrectomy was performed in these 2 eyes. Conversion to extracapsular cataract extraction(ECCEwas needed in these 2(3%eyes due to large posterior capsular rupture. Persistent corneal edema was observed in 4(6%eyes, and anterior chamber reaction in 5(7%eyes. IOL dislocation occurred in 4(6%eyes, but repositioning was only needed in 1(1.5%eye. Posterior capsule opacification(PCOrequiring Nd:YAG laser capsulotomy developed in 13(20%eyes.CONCLUSION: Postoperative visual acuities of patients with cataract and PEX are satisfactory. However, intraoperative and postoperative complications like posterior capsule rupture, vitreous loss, conversion to ECCE, persistent corneal edema, anterior chamber reaction and IOL dislocation may be observed. To avoid these complications, proper surgical techniques and the use of appropriate devices intraoperatively are essential.

Combined keratoplasty and cataract extraction.

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Demeler, U; Hinzpeter, E N

1977-04-01

A short film showing our technique of combined penetrating keratoplasty and intracapsular cataract extraction was shown, and the postoperative results in 72 eyes after an average of 3 years were reported.

Protective effects of ebselen on sodium-selenite-induced experimental cataract in rats.

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Aydemir, Orhan; Güler, Mete; Kaya, Mehmet Kaan; Deniz, Nurettin; Üstündağ, Bilal

2012-12-01

To determine whether ebselen has a protective effect or antioxidative potential in a sodium-selenite-induced experimental cataract model. Fırat University, Elazığ, Turkey. Experimental study. Twenty-one Sprague-Dawley rat pups were randomly divided into a control group, a sodium-selenite-induced-cataract group, and an ebselen-treated group; each group contained 7 rat pups. Rats in the control group received dimethyl sulfoxide (DMSO) intraperitoneally only and rats in the sodium-selenite-induced-cataract group received 30 nmol/g body weight sodium selenite subcutaneously and DMSO intraperitoneally 10 days postpartum. Rats in the ebselen group received 30 nmol/g body weight sodium selenite subcutaneously 10 days postpartum and were treated with 5 mg/kg body weight ebselen once a day for 4 consecutive days. Cataract development was assessed weekly for 3 weeks by slitlamp examination and graded using a scale. Reduced glutathione (GSH), total nitrite, and malondialdehyde (MDA) levels in lens supernatants were measured at the end of 3 weeks. In the control group, all lenses were clear. In the ebselen-treated group, the mean cataract stage was significantly lower than in the sodium-selenite-induced-cataract group (P = .022). The GSH levels were significantly lower in the sodium-selenite-induced-cataract group than in the control and ebselen groups (P ebselen group than in the sodium-selenite-induced-cataract group (P ebselen group (P = .001). Ebselen had a protective effect on cataract development in a sodium-selenite-induced experimental model. The protective effect of ebselen appears to be due to inhibition of oxidative stress. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2012 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Use of the Delphi process in paediatric cataract management.

Science.gov (United States)

Serafino, Massimiliano; Trivedi, Rupal H; Levin, Alex V; Wilson, M Edward; Nucci, Paolo; Lambert, Scott R; Nischal, Ken K; Plager, David A; Bremond-Gignac, Dominique; Kekunnaya, Ramesh; Nishina, Sachiko; Tehrani, Nasrin N; Ventura, Marcelo C

2016-05-01

To identify areas of consensus and disagreement in the management of paediatric cataract using a modified Delphi approach among individuals recognised for publishing in this field. A modified Delphi method. International paediatric cataract experts with a publishing record in paediatric cataract management. The process consisted of three rounds of anonymous electronic questionnaires followed by a face-to-face meeting, followed by a fourth anonymous electronic questionnaire. The executive committee created questions to be used for the electronic questionnaires. Questions were designed to have unit-based, multiple choice or true-false answers. The questionnaire included issues related to the preoperative, intraoperative and postoperative management of paediatric cataract. Consensus based on 85% of panellists being in agreement for electronic questionnaires or 80% for the face-to-face meeting, and near consensus based on 70%. Sixteen of 22 invited paediatric cataract surgeons agreed to participate. We arrived at consensus or near consensus for 85/108 (78.7%) questions and non-consensus for the remaining 23 (21.3%) questions. Those questions where consensus was not reached highlight areas of either poor evidence or contradicting evidence, and may help investigators identify possible research questions. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

[Cataract surgery and its impact on balance and autonomy in elderly].

Science.gov (United States)

Raynal, M; Aupy, B; Jahidi, A; Ettien, D; Le Page, P; Briche, T; Kossowski, M; Pailllaud, E

2009-01-01

Cataract is a major cause of visual impairment among elderly. Cataract surgery improves visual afferencies and can have an impact on balance. The present study assessed the impact of cataract surgery upon balance and autonomy in elderly. We realized clinical examinations and objective tests the day before surgery and 2-months later. The initial cohort consisted of 66 patients that had to undergo a cataract surgery. Their mean age was 79 +/- 0.5. For logistic reasons, only 33 patients have been completely evaluated before and after surgery. Each patient underwent a history and examination that have assessed autonomy, walking, visual and then cochleo-vestibular functions including bone vibratory test and dynamic computerized posturography (Equitest). After 2 months, cataract surgery had no incidence on balance. The fear of falling has stayed the same whereas the number of falls has been noticeably reduced by surgery. The overall score of Equitest has shown an increase in visual dependence after surgery. Although cataract surgery has no incidence on autonomy, it may improve the quality of life among older people by leisure activities recovery. An early physical rehabilitation facilitated by visual improvement after surgery can also prevent visual dependence and autonomy loss. We recommend vestibular rehabilitation in elderly with major visual dependence.

Three-Dimensional Cataract Crystalline Lens Imaging With Swept-Source Optical Coherence Tomography.

Science.gov (United States)

de Castro, Alberto; Benito, Antonio; Manzanera, Silvestre; Mompeán, Juan; Cañizares, Belén; Martínez, David; Marín, Jose María; Grulkowski, Ireneusz; Artal, Pablo

2018-02-01

To image, describe, and characterize different features visible in the crystalline lens of older adults with and without cataract when imaged three-dimensionally with a swept-source optical coherence tomography (SS-OCT) system. We used a new SS-OCT laboratory prototype designed to enhance the visualization of the crystalline lens and imaged the entire anterior segment of both eyes in two groups of participants: patients scheduled to undergo cataract surgery, n = 17, age range 36 to 91 years old, and volunteers without visual complains, n = 14, age range 20 to 81 years old. Pre-cataract surgery patients were also clinically graded according to the Lens Opacification Classification System III. The three-dimensional location and shape of the visible opacities were compared with the clinical grading. Hypo- and hyperreflective features were visible in the lens of all pre-cataract surgery patients and in some of the older adults in the volunteer group. When the clinical examination revealed cortical or subcapsular cataracts, hyperreflective features were visible either in the cortex parallel to the surfaces of the lens or in the posterior pole. Other type of opacities that appeared as hyporeflective localized features were identified in the cortex of the lens. The OCT signal in the nucleus of the crystalline lens correlated with the nuclear cataract clinical grade. A dedicated OCT is a useful tool to study in vivo the subtle opacities in the cataractous crystalline lens, revealing its position and size three-dimensionally. The use of these images allows obtaining more detailed information on the age-related changes leading to cataract.

The comparison between torsional and conventional mode phacoemulsification in moderate and hard cataracts.

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Kim, Dong-Hyun; Wee, Won-Ryang; Lee, Jin-Hak; Kim, Mee-Kum

2010-12-01

To compare the intraoperative performances and postoperative outcomes of cataract surgery performed with longitudinal phacoemulsification and torsional phacoemulsification in moderate and hard cataracts. Of 85 patients who had senile cataracts, 102 eyes were operated on using the Infiniti Vision System. Preoperative examinations (slit lamp examination, mean central corneal thickness, and central endothelial cell counts) were performed for each patient. Cataracts were subdivided into moderate and hard, according to the Lens Opacities Classification System III grading of nucleus opalescence (NO). Eyes in each cataract group were randomly assigned to conventional and torsional phaco-mode. Intraoperative parameters, including ultrasound time (UST), cumulative dissipated energy (CDE), and the balanced salt solution plus (BSSP) volume utilized were evaluated. Best corrected visual acuity (BCVA) was checked on postoperative day 30; mean central corneal thickness and central endothelial cell counts were investigated on postoperative days 7 and 30. Preoperative BCVA and mean grading of NO showed no difference in both groups. Preoperative endothelial cell count and central corneal thickness also showed no significant difference in both groups. In the moderate cataract group, the CDE, UST, and BSSP volume were significantly lower in the torsional mode than the longitudinal mode, but they did not show any difference in the hard cataract group. Torsional group showed less endothelial cell loss and central corneal thickening at postoperative day seven in moderate cataracts but showed no significant differences, as compared with the longitudinal group, by postoperative day 30. Torsional phacoemulsification showed superior efficiency for moderate cataracts, as compared with longitudinal phacoemulsification, in the early postoperative stage.

The Comparison between Torsional and Conventional Mode Phacoemulsification in Moderate and Hard Cataracts

Science.gov (United States)

Kim, Dong-Hyun; Wee, Won-Ryang; Lee, Jin-Hak

2010-01-01

Purpose To compare the intraoperative performances and postoperative outcomes of cataract surgery performed with longitudinal phacoemulsification and torsional phacoemulsification in moderate and hard cataracts. Methods Of 85 patients who had senile cataracts, 102 eyes were operated on using the Infiniti Vision System. Preoperative examinations (slit lamp examination, mean central corneal thickness, and central endothelial cell counts) were performed for each patient. Cataracts were subdivided into moderate and hard, according to the Lens Opacities Classification System III grading of nucleus opalescence (NO). Eyes in each cataract group were randomly assigned to conventional and torsional phaco-mode. Intraoperative parameters, including ultrasound time (UST), cumulative dissipated energy (CDE), and the balanced salt solution plus (BSSP) volume utilized were evaluated. Best corrected visual acuity (BCVA) was checked on postoperative day 30; mean central corneal thickness and central endothelial cell counts were investigated on postoperative days 7 and 30. Results Preoperative BCVA and mean grading of NO showed no difference in both groups. Preoperative endothelial cell count and central corneal thickness also showed no significant difference in both groups. In the moderate cataract group, the CDE, UST, and BSSP volume were significantly lower in the torsional mode than the longitudinal mode, but they did not show any difference in the hard cataract group. Torsional group showed less endothelial cell loss and central corneal thickening at postoperative day seven in moderate cataracts but showed no significant differences, as compared with the longitudinal group, by postoperative day 30. Conclusions Torsional phacoemulsification showed superior efficiency for moderate cataracts, as compared with longitudinal phacoemulsification, in the early postoperative stage. PMID:21165231

Challenges to the Elimination of Cataract Blindness in Nigeria as ...

African Journals Online (AJOL)

ophthalmic manpower for primary health centers is lacking. Equipments for modern cataract surgery is lacking as only 45.2% of practitioners have them for practice in their institutions. Institutional cataract surgery output is low; averaging 50-92 a year, ...

[Analysis of refractive status after cataract surgery in age-related cataract patients with shallow anterior chamber].

Science.gov (United States)

Yang, Fei; Hou, Xianru; Wu, Huijuan; Bao, Yongzhen

2014-02-01

To evaluate the characteristics of postoperative refractive status in age-related cataract patients with shallow anterior chamber and the correlation between pre-operative anterior chamber depth and postoperative refractive status. Prospective case-control study. Sixty-eight cases (90 eyes) with age-related cataract were recruited from October 2010 to January 2012 in People's Hospital Peking University including 28 cases (34 eyes) in control group and 40 cases (56 eyes) in shallow anterior chamber group according to anterior chamber depth (ACD) measured by Pentacam system. Axial length and keratometer were measured by IOL Master and intraocular lens power was calculated using SRK/T formula. Postoperative refraction, ACD and comprehensive eye examination were performed at 1 month and 3 months after cataract surgery. Using SPSS13.0 software to establish a database, the two groups were compared with independent samples t-test and correlation analysis were performed with binary logical regression. The postoperative refractive deviation at 1 month were (-0.39 ± 0.62) D in control group and (+0.73 ± 0.26) D in shallow anterior chamber group respectively which present statistical significance between the two groups (P = 0.00, t = 3.67); the postoperative refractive deviation in 3 month was (-0.37 ± 0.62) D in control group and (+0.79 ± 0.28) D in shallow anterior chamber group operatively which present statistical significance between the two groups (P = 0.00, t = 3.33). In shallow anterior chamber group, with the shallower of ACD, the greater of refractive deviation (P = 0.00, r1 month = -0.57, r3 months = -0.61). Hyperopic shift existed in age-related cataract patients with shallow anterior chamber and the shallower of ACD was, the greater of hyperopic shift happened.

Risk factors predisposing to congenital heart defects

International Nuclear Information System (INIS)

Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

2011-01-01

Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD

Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

OpenAIRE

Charfi, Nadia; Kamoun, Mahdi; Feki Mnif, Mouna; Mseddi, Neila; Mnif, Fatma; Kallel, Nozha; Ben Naceur, Basma; Rekik, Nabila; Fourati, Hela; Daoud, Emna; Mnif, Zainab; Hadj Sliman, Mourad; Sellami-Boudawara, Tahia; Abid, Mohamed

2012-01-01

Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs). Leydig cell tumors (...

Microincision versus small-incision coaxial cataract surgery using different power modes for hard nuclear cataract.

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Kim, Eun Chul; Byun, Yong Soo; Kim, Man Soo

2011-10-01

To compare the efficacy of microincision and small-incision coaxial phacoemulsification in treating hard cataracts using different ultrasound power modes. Department of Ophthalmology, Seoul St. Mary's Hospital, College of Medicine, Catholic University of Korea, Seoul, Korea. Randomized clinical trial. Eyes with hard cataract were randomized to have an initial incision of 1.80 mm, 2.20 mm, or 2.75 mm. The eyes in each group were equally randomized to treatment with burst, pulse, or continuous mode. Ultrasound time (UST), mean cumulative dissipated energy (CDE), corrected distance visual acuity (CDVA), surgically induced corneal astigmatism, incisional and central corneal thickness (CCT), and endothelial cell counts were evaluated. The study enrolled 180 eyes, 60 in each group. Two months postoperatively, there were no statistically significant differences in UST, CDE, CDVA, CCT, or percentage endothelial cell loss between the 3 incision groups. The 2.75 mm incision induced more astigmatism at 2 months and less incisional corneal edema at 1 week than the 1.80 mm or 2.20 mm incision (Phard cataract. The intraoperative energy use and ocular damage was less with the pulse and burst modes than with the continuous mode. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

A broadly applicable surgical teaching method: evaluation of a stepwise introduction to cataract surgery.

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Kloek, Carolyn E; Borboli-Gerogiannis, Sheila; Chang, Kenneth; Kuperwaser, Mark; Newman, Lori R; Lane, Anne Marie; Loewenstein, John I

2014-01-01

Although cataract surgery is one of the most commonly performed surgeries in the country, it is a microsurgical procedure that is difficult to learn and to teach. This study aims to assess the effectiveness of a new method for introducing postgraduate year (PGY)-3 ophthalmology residents to cataract surgery. Hospital-based ophthalmology residency program. Retrospective cohort study. PGY-3 and PGY-4 residents of the Harvard Medical School Ophthalmology Residency from graduating years 2010 to 2012. In July 2009, a new method of teaching PGY-3 ophthalmology residents cataract surgery was introduced, which was termed "the stepwise introduction to cataract surgery." This curriculum aimed to train residents to perform steps of cataract surgery by deliberately practicing each of the steps of surgery under a structured curriculum with faculty feedback. Assessment methods included surveys administered to the PGY-4 residents who graduated before the implementation of these measures (n = 7), the residents who participated in the first and second years of the new curriculum (n = 16), faculty who teach PGY-4 residents cataract surgery (n = 8), and review of resident Accreditation Council for Graduate Medical Education surgical logs. Resident survey response rate was 100%. Residents who participated in the new curriculum performed more of each step of cataract surgery in the operating room, spent more time practicing each step of cataract surgery on a cataract surgery simulator during the PGY-3 year, and performed more primary cataract surgeries during the PGY-3 year than those who did not. Faculty survey response rate was 63%. Faculty noted an increase in resident preparedness following implementation of the new curriculum. There was no statistical difference between the precurriculum and postcurriculum groups in the percentage turnover of cataracts for the first 2 cataract surgery rotations of the PGY-4 year of training. The introduction of cataract surgery to PGY-3 residents

OPTIMIZATION OF LASER SURGERY OF THE SECONDARY CATARACT

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O. I. Baum

2016-01-01

Full Text Available Background: This is a theoretical and experimental study of the thermomechanical effects of laser radiation with a wavelength of 1.06 microns on the eye tissues during a laser surgery on the secondary cataract (pupillary membrane. Its relevance is related to the rates of complications after laser surgery of the eye associated with the choice of energy and time parameters of the laser irradiation. These parameters are related to the occurrence of such factors as unstable fields of thermal stress and pressure that are difficult to take into account and indirectly lead to adverse events when removing the secondary cataract. Aim: To minimize side effects and to optimize the existing technology of laser removal of the secondary cataract. Materials and methods: Samples of a  normal lens capsule and of lens capsules with various types of opacities taken during a  cataract surgery, with various optic characteristics and thickness, were treated with an infrared laser (Nd:YAG laser, 1064 nm. We performed morphometric measurements and built up a  theoretical model of the processes in a continuous medium under the effects of impulse laser irradiation. Results: The results of numerical modelling with this newly developed theoretical model are in satisfactory agreement with the experimental data on development of deformities obtained with the autopsy materials (posterior capsule of the human lens with various optical characteristics and thickness, from thin transparent membranes to more thick opaque samples. Conclusion: This study would allow for optimization of the technology of laser treatment for secondary cataracts by changing the irradiation parameters during the procedure. 

Results of endocapsular phacofracture debulking of hard cataracts

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Davison JA

2015-07-01

Full Text Available James A Davison Wolfe Eye Clinic, Marshalltown, IA, USA Purpose/aim of the study: To present a phacoemulsification technique for hard cataracts and compare postoperative results using two different ultrasonic tip motions during quadrant removal.Materials and methods: A phacoemulsification technique which employs in situ fracture and endocapsular debulking for hard cataracts is presented. The prospective study included 56 consecutive cases of hard cataract (LOCS III NC [Lens Opacification Classification System III, nuclear color], average 4.26, which were operated using the Infiniti machine and the Partial Kelman tip. Longitudinal tip movement was used for sculpting for all cases which were randomized to receive longitudinal or torsional/interjected longitudinal (Intelligent Phaco [IP] strategies for quadrant removal. Measurements included cumulative dissipated energy (CDE, 3 months postoperative surgically induced astigmatism (SIA, and corneal endothelial cell density (ECD losses.Results: No complications were recorded in any of the cases. Respective overall and longitudinal vs IP means were as follows: CDE, 51.6±15.6 and 55.7±15.5 vs 48.6±15.1; SIA, 0.36±0.2 D and 0.4±0.2 D vs 0.3±0.2 D; and mean ECD loss, 4.1%±10.8% and 5.9%±13.4% vs 2.7%±7.8%. The differences between longitudinal and IP were not significant for any of the three categories.Conclusion: The endocapsular phacofracture debulking technique is safe and effective for phacoemulsification of hard cataracts using longitudinal or torsional IP strategies for quadrant removal with the Infiniti machine and Partial Kelman tip. Keywords: astigmatism, cataract, corneal endothelium, phacoemulsification, viscoelastic

CT evaluation of the anterior epitympanic recess

International Nuclear Information System (INIS)

Yamasoba, Tatsuya; Kikuchi, Shigeru; Takeuchi, Naonobu; Harada, Takehiko; Nomura, Yasuya

1991-01-01

The structures of the anterior epitympanic recess and its surrounding tissues were examined among non-inflammatory ear, chronic otitis media with central perforation and cholesteatoma, using axial scans of high resolution computed tomography. The length and width of the recess, as well as the number of the slices where the cog was determined, had no significant differences among them. Thus, the bony structure of the recess was considered to be seldom influenced by inflammatory processes. In the non-inflammatory ear, the degree of pneumatization around the recess was similar to that of the petrous apex cells and lower than that of the mastoid cells. In the chronic otitis media with central perforation and cholesteatoma, the pneumatization of the whole temporal bones was suppressed and the tendency was also found that the cells around the recess were less pneumatized than the mastoid cells. When cholesteatoma invaded into the anterior epitympanic recess, the destruction of the bony protrusion of the lateral wall between the recess and the epitympanum was recognized, as well as the disappearance of the cog. The bony protrusion was considered to be an inferior extention of the cog toward the anterior tympanic spine. (author)

Cataract surgery in Southern Ethiopia: distribution, rates and determinants of service provision.

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Habtamu, Esmael; Eshete, Zebiba; Burton, Matthew J

2013-11-19

Cataract is the leading cause of blindness worldwide, with the greatest burden found in low-income countries. Cataract surgery is a curative and cost-effective intervention. Despite major non-governmental organization (NGO) support, the cataract surgery performed in Southern Region, Ethiopia is currently insufficient to address the need. We analyzed the distribution, productivity, cost and determinants of cataract surgery services. Confidential interviews were conducted with all eye surgeons (Ophthalmologists & Non-Physician Cataract Surgeons [NPCS]) in Southern Region using semi-structured questionnaires. Eye care project managers were interviewed using open-ended qualitative questionnaires. All eye units were visited. Information on resources, costs, and the rates and determinants of surgical output were collected. Cataract surgery provision is uneven across Southern Region: 66% of the units are within 200 km of the regional capital. Surgeon to population ratios varied widely from 1:70,000 in the capital to no service provision in areas containing 7 million people. The Cataract Surgical Rate (CSR) in 2010 was 406 operations/million/year with zonal CSRs ranging between 204 and 1349. Average number of surgeries performed was 374 operations/surgeon/year. Ophthalmologists and NPCS performed a mean of 682 and 280 cataract operations/surgeon/year, respectively (p = 0.03). Resources are underutilized, at 56% of capacity. Community awareness programs were associated with increased activity (p = 0.009). Several factors were associated with increased surgeon productivity (p 2 years, working in a NGO/private clinic, working in an urban unit, having a unit manger, conducting outreach programs and a satisfactory work environment. The average cost of cataract surgery in 2010 was US$141.6 (Range: US$37.6-312.6). Units received >70% of their consumables from NGOs. Mangers identified poor staff motivation, community awareness and limited government support as major

Changes in the distribution of lens calcium during development of x-ray cataract

International Nuclear Information System (INIS)

Hightower, K.R.; Giblin, F.J.; Reddy, V.N.

1983-01-01

The present study was designed to examine the possible role of calcium in the opacification of x-ray-induced cataract in rabbit. The results demonstrate that the concentration of calcium in x-rayed lenses, just prior to lens hydration (7.5 weeks postirradiation), was twice that present in contralateral control lenses. At this stage of immature cataract, the lens nucleus remained transparent and maintained a normal level of calcium, but the lens cortex, containing regions of subcapsular opacification, accumulated a level of calcium that was twice that of the control. In the completely opaque mature cataract, (8-9 weeks post x-ray), both the cortex and nucleus had gained significant amounts of calcium. As the concentration of total calcium increased in the immature x-ray cataract, the amount of the cation bound to membranes and insoluble proteins of the cytosol also increased comparably. However, the relative proportion of calcium in the various fractions remained unaltered in the immature cataract; in both control lenses and immature cataracts, 20% of the total calcium remained in the membrane pellet and 70% was located in the soluble protein fraction. Only in the mature stage of cataract was a shift in the distribution of calcium apparent, as the proportion of calcium in the soluble protein fraction increased to 90%. Although only 7% of the total calcium in a mature cataract was bound to membrane, the amount represented a fivefold increase over the control. The results of this study demonstrate that an elevation in lens calcium accompanies the opacification process in x-ray cataract. The work also suggests that changes in calcium levels are not likely to result from inactivation of Ca-ATPase

Retinal detachment repair and cataract surgery in patients with atopic dermatitis.

Science.gov (United States)

Gnana Jothi, V; McGimpsey, S; Sharkey, J A; Chan, W C

2017-09-01

PurposeThe aim of this study is to report a case series of ocular complications including retinal detachment (RD) and cataract in atopic dermatitis (AD) and surgical management involving a majority of Caucasian patients.Patients and methodsThis study is an observational case series, originally designed as an audit. It involves detailed discussion of history, clinical features, and surgical management of patients presenting with retinal detachment and cataracts secondary to severe AD. Six consecutive patients with diagnosis of severe AD requiring posterior segment and cataract surgery were included in the study.ResultsEight eyes of six patients had retinal detachment. Most of them involved the temporal retina. The retinal breaks were located anteriorly close to the ora serrata in six eyes and Giant tear retinal (GRT) detachment was found in two eyes. Five eyes had proliferative vitreo-retinopathy (PVR) at presentation. All six patients had bilateral cataracts and cataract surgery was performed in eleven eyes. Bilateral simultaneous surgery was essential in two patients. Three eyes had secondary intra-ocular lens (IOL) implantation with pars plana vitrectomy for subluxed lens implant.ConclusionsAnterior retinal breaks and temporal RD are common in retinal detachment secondary to AD. PVR is often present, which makes surgical management difficult. Cataract formation is quite often and late subluxation of IOL may occur.

[The occupational radiation-induced cataract in five industrial radiographers].

Science.gov (United States)

Benzarti Mezni, A; Loukil, I; Hriz, N; Kallel, K; Mlaiki, N; Ben Jemaâ, A

2012-04-01

The industrial uses of ionizing radiation in Tunisia are expanding, especially in industry and most particularly in the nondestructive testing of welds. Thus workers operating in the non-destructive testing of welds may develop a radiation-induced cataract varying in time to onset depending on the dose. To describe the characteristics of the radiation-induced cataract in patients exposed to ionizing radiation, determine the risk factors of radiation-induced cataracts. This was an anamnestic, clinical, and environmental study of five cases of radiation-induced cataract in workers employed in non-destructive testing of welds. This series of five cases had a mean age of 30.2 years and 5.53 years of work experience, ranging from 14 months to 15 years. All the patients were male and industrial radiographers specialized in nondestructive testing of welds. The average duration of exposure to ionizing radiation was 5.53 years. None of the patients had worn protective gear such as eye goggles. The ophthalmic check-up for the five special industrial radiographers showed punctuate opacities in three cases, punctiform opacities in one eye in one case, and phacosclerosis with bilateral lens multiple crystalline stromal opacities in a case of micro-lens opacities in both eyes with opalescence of both eyes in one case. These cataracts had been declared as occupational diseases. The value of a specialized ophthalmologic surveillance among these workers and the early diagnosis of lens opacities must be emphasized. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Cataract surgery in patients with nanophthalmos: results and complications.

Science.gov (United States)

Wu, Wayne; Dawson, Daniel G; Sugar, Alan; Elner, Susan G; Meyer, Kathy A; McKey, Jesse B; Moroi, Sayoko E

2004-03-01

To evaluate the results and complications of cataract surgery in patients with nanophthalmos. University hospital practice. The records of consecutive patients with nanophthalmos who had cataract surgery from 1978 through 2002 were reviewed for ocular diagnoses, corneal diameter, keratometry, axial length, retinal-choroidal-scleral thickness determined by echography, ocular surgeries, visual acuity, and complications. Eight patients (6 women, 2 men) with a mean age of 59 years were reviewed. Four patients were not previously diagnosed with nanophthalmos; increased retinal-choroidal-scleral thickness (mean 2.41 mm) confirmed the diagnosis. Twelve eyes had cataract extraction with posterior chamber intraocular lens (IOL) implantation, 11 by phacoemulsification and 1 by extracapsular cataract extraction, and 4 eyes had lamellar scleral resections. Additional surgeries included glaucoma laser treatment (8 eyes), cyclocryotherapy (2 eyes), trabeculectomy with scleral resection (1 eye), trabeculectomy combined with phacoemulsification (1 eye), and neodymium:YAG laser capsulotomy (4 eyes). No eye lost vision; however, complications included severe iritis, broken IOL haptic with vitreous loss, posterior capsule opacity, choroidal hemorrhage, phthisis, and aqueous misdirection. Results indicate that echography should be used to assess retinal-choroidal-scleral thickness in eyes that are hyperopic and at risk for narrow-angle glaucoma. Thickening may confirm the diagnosis of nanophthalmos and allow careful preoperative assessment and appropriate operative procedures in these high-risk eyes. With advances in cataract, glaucoma, and uveal effusion treatments, surgical results in patients with nanophthalmos are improving.

Impact of cataract surgery in reducing visual impairment: a review.

Science.gov (United States)

Khandekar, Rajiv; Sudhan, Anand; Jain, B K; Deshpande, Madan; Dole, Kuldeep; Shah, Mahul; Shah, Shreya

2015-01-01

The aim was to assess the impact of cataract surgeries in reducing visual disabilities and factors influencing it at three institutes of India. A retrospective chart review was performed in 2013. Data of 4 years were collected on gender, age, residence, presenting a vision in each eye, eye that underwent surgery, type of surgery and the amount the patient paid out of pocket for surgery. Visual impairment was categorized as; absolute blindness (no perception of light); blind (visual impairment (SVI) (visual impairment (6/18-6/60) and; normal vision (≥6/12). Statistically analysis was performed to evaluate the association between visual disabilities and demographics or other possible barriers. The trend of visual impairment over time was also evaluated. We compared the data of 2011 to data available about cataract cases from institutions between 2002 and 2009. There were 108,238 cataract cases (50.6% were female) that underwent cataract surgery at the three institutions. In 2011, 71,615 (66.2%) cases underwent surgery. There were 45,336 (41.9%) with presenting vision visual disability. The goal of improving vision related quality of life for cataract patients during the early stages of visual impairment that is common in industrialized countries seems to be non-attainable in the rural India.

Axial length elongation in adults with long-standing unilateral traumatic cataract

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Jonel Steffen

2016-09-01

Full Text Available Background: Unilateral eye elongation with resultant axial myopia has been reported to occur secondary to visual deprivation from birth or early childhood. Acquired axial length elongation secondary to visual deprivation in adults has rarely been reported. Aim: To report acquired axial myopia in adults with visual deprivation due to long-standing unilateral traumatic cataract. Methods: Eleven consecutive adult patients who presented for cataract surgery with unilateral, long-standing, mature, traumatic cataracts and an interocular axial length difference of more than 1 mm were studied. Patients with a post-operative best corrected visual acuity (BCVA of < 6/12 were excluded to rule out possible pre-existing anisometropic amblyopia. Results: Of the 11 patients with significant interocular axial length difference, 5 patients were excluded on the basis of possible pre-existing amblyopia. The remaining 6 patients had final BCVA of 6/12 or better. The median length of the cataractous eyes was 2.83 mm longer than the fellow eyes (range 1.12 mm – 3.52 mm. The intraocular lens power required for emmetropia was 6.8 dioptres (range 3.5 dioptres – 11.5 dioptres less in the cataractous eyes. A refractive outcome within 1 dioptre of the target refraction was achieved in all patients. The median delay between ocular trauma and cataract surgery was 20 years (range 8–24 years. Conclusion: Significant unilateral axial length elongation may occur in adults with longstanding traumatic cataracts and visual deprivation. A potential correlation may exist between delay to surgery and degree of axial length difference. This rare phenomenon must be considered when determining intraocular lens power to avoid post-operative refractive surprises.

Risk of cataract among medical staff in neurosurgical department occupationally exposed to radiation

International Nuclear Information System (INIS)

Stankova-Mileva, I.; Vassileva, J.; Djounova, J.

2012-01-01

In this study we present the risk of cataract among medical staff in neurosurgical department occupationally exposed to radiation compared to those of non-radiation workers. Cataract is the most common degenerative opacity of the crystalline lens developing with aging. Other risk factors for cataract are: infrared and ultraviolet radiation, systemic diseases (diabetes, hypertonic disease), eye diseases (glaucoma, high myopia), drugs (steroids), etc. High risk of developing cataract we find among staff occupationally exposed to radiation during operations - interventional cardiologists and neurosurgeons. This study includes 30 people between 33 and 60 years of age working in neurosurgical department and control group (the same amount and age of people not exposed to radiation in their work). After visual acuity measurement, the lens was examined by retroillumination method (red reflex) and using a bio microscope. The patients were asked for presence of ocular and systemic diseases, eye trauma, drug, alcohol and tobacco abuse and for how many years they work in this department. There was one case with cataract among neurosurgeons. The doctor doesn't have eye or systemic diseases, doesn't take any drugs and is not alcohol or tobacco abuser. In the control group there were two persons with subcapsular cataract but they have diabetes. Radiation is one of the risk factors for cataract. Continuing of this epidemiological survey will provide further knowledge on the potential risk of occupational radiation-induced cataract among neurosurgical staff and will contribute for optimization of radiation protection. (authors)

Images created in a model eye during simulated cataract surgery can be the basis for images perceived by patients during cataract surgery

Science.gov (United States)

Inoue, M; Uchida, A; Shinoda, K; Taira, Y; Noda, T; Ohnuma, K; Bissen-Miyajima, H; Hirakata, A

2014-01-01

Purpose To evaluate the images created in a model eye during simulated cataract surgery. Patients and methods This study was conducted as a laboratory investigation and interventional case series. An artificial opaque lens, a clear intraocular lens (IOL), or an irrigation/aspiration (I/A) tip was inserted into the ‘anterior chamber' of a model eye with the frosted posterior surface corresponding to the retina. Video images were recorded of the posterior surface of the model eye from the rear during simulated cataract surgery. The video clips were shown to 20 patients before cataract surgery, and the similarity of their visual perceptions to these images was evaluated postoperatively. Results The images of the moving lens fragments and I/A tip and the insertion of the IOL were seen from the rear. The image through the opaque lens and the IOL without moving objects was the light of the surgical microscope from the rear. However, when the microscope light was turned off after IOL insertion, the images of the microscope and operating room were observed by the room illumination from the rear. Seventy percent of the patients answered that the visual perceptions of moving lens fragments were similar to the video clips and 55% reported similarity with the IOL insertion. Eighty percent of the patients recommended that patients watch the video clip before their scheduled cataract surgery. Conclusions The patients' visual perceptions during cataract surgery can be reproduced in the model eye. Watching the video images preoperatively may help relax the patients during surgery. PMID:24788007

Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination.

Science.gov (United States)

Hussain, Shabbir

2016-05-01

Neonatal Bartter syndrome (NBS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic, hypochloraemic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninaemia and hyperaldosteronaemia but normotension. Congenital adrenal hyperplasia (CAH), another autosomal recessive condition, may present in the neonatal period with vomiting, hypovolaemia, failure to gain weight or ambiguous genitalia. We report a case of NBS and CAH combination in a neonate. A male neonate born at term was admitted with history of recurrent vomiting and dehydration episodes. Investigations revealed electrolytes imbalance, metabolic alkalosis, raised aldosterone and renin levels suggestive of NBS. He was treated successfully and discharged. He was re-admitted with the same symptoms. Further evaluation confirmed the presence of CAH as well. We report this case because of the rarity of this combination (NBS plus CAH) and to the best of our knowledge this is the first such case report from Pakistan.

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

NARCIS (Netherlands)

Y. Indo (Yasuhiro); S. Mardy (Sek); Y. Miura (Yuichi); A. Moosa (Allie); E.A.R. Ismail (Essam A.); E. Toscano (Ennio); G. Andria (Generoso); V. Pavone (Vito); D.L. Brown (Deborah); A.S. Brooks (Alice); F. Endo (Fumio); I. Matsuda (Ichiro)

2001-01-01

textabstractCongenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

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Carsten Bergmann

2018-02-01

Full Text Available Autosomal recessive polycystic kidney disease (ARPKD is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal hypertension in some patients. Mutations in the PKHD1 gene are the primary cause of ARPKD; however, the disease is genetically not as homogeneous as long thought and mutations in several other cystogenes can phenocopy ARPKD. The family history usually is negative, both for recessive, but also often for dominant disease genes due to de novo arisen mutations or recessive inheritance of variants in genes that usually follow dominant patterns such as the main ADPKD genes PKD1 and PKD2. Considerable progress has been made in the understanding of polycystic kidney disease (PKD. A reduced dosage of disease proteins leads to the disruption of signaling pathways underlying key mechanisms involved in cellular homeostasis, which may help to explain the accelerated and severe clinical progression of disease course in some PKD patients. A comprehensive knowledge of disease-causing genes is essential for counseling and to avoid genetic misdiagnosis, which is particularly important in the prenatal setting (e.g., preimplantation genetic diagnosis/PGD. For ARPKD, there is a strong demand for early and reliable prenatal diagnosis, which is only feasible by molecular genetic analysis. A clear genetic diagnosis is helpful for many families and improves the clinical management of patients. Unnecessary and invasive measures can be avoided and renal and extrarenal comorbidities early be detected in the clinical course. The increasing number of genes that have to be considered benefit from the advances of next-generation sequencing (NGS which allows simultaneous analysis of a large group of genes in a single test at relatively low cost and has become the mainstay for genetic diagnosis. The broad phenotypic and genetic

The clinical utility of new combination phenylephrine/ketorolac injection in cataract surgery

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Lawuyi LE

2015-07-01

Full Text Available Lola Elizabeth Lawuyi, Avinash Gurbaxani Moorfields Eye Hospital Dubai, Dubai, UAE Abstract: The maintenance of mydriasis throughout cataract extraction surgery and the control of ocular inflammation are crucial for successful surgical outcomes. The development of miosis during cataract surgery compromises the visualization of the surgical field and working space for surgeons. This may lead to complications that include posterior capsular tear and associated vitreous loss, longer surgical time, and postoperative inflammation. Postoperative inflammation is often uncomfortable and frustrating for patients. It causes pain, redness, and photophobia. This compromises the best-uncorrected vision following surgery and often leads to multiple clinic visits. This article examines the literature published on the current treatments used to manage mydriasis, pain, and inflammation in cataract extraction surgery. Combination phenylephrine/ketorolac injection offers an exciting new class of medication for use in cataract surgery. With the recent approval of Omidria™ (combination of phenylephrine 1% and ketorolac 0.3% by the US Food and Drug Administration (FDA for intraocular use, we review the clinical utility of this new combination injection in cataract surgery. PubMed, MEDLINE, and conference proceedings were searched for the relevant literature using a combination of the following search terms: cataract extraction surgery, pupil dilation (mydriasis, miosis, phenylephrine, ketorolac, Omidria™, intracameral mydriatic. Relevant articles were reviewed and their references checked for further relevant literature. All abstracts were reviewed and full texts retrieved where available. Keywords: cataract extraction surgery, ketorolac, mydriasis, miosis, Omidria™, phenylephrine

Congenital adrenal hyperplasia: Treatment and outcomes

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Mahdi Kamoun

2013-01-01

Full Text Available Congenital adrenal hyperplasia (CAH describes a group of autosomal recessive disorders where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency accounts for 95% of cases and shows a wide range of clinical severity. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment of CAH. The optimal treatment for adults with CAH continues to be a challenge. Important long-term health issues for adults with CAH affect both men and women. These issues may either be due to the disease or to steroid treatment and may affect final height, fertility, cardiometabolic risk, bone metabolism, neuro-cognitive development and the quality-of-life. Patients with CAH should be regularly followed-up from childhood to adulthood by multidisciplinary teams who have knowledge of CAH. Optimal replacement therapy, close clinical and laboratory monitoring, early life-style interventions, early and regular fertility assessment and continuous psychological management are needed to improve outcome.

Pediatric cataract surgery in Madagascar

African Journals Online (AJOL)

2013-03-28

Mar 28, 2013 ... Results: A total of 60.5 percent of the 86 children operated on during ... cataract, an avoidable cause of blindness and visual disability in children on the island nation. .... counseling services, reimbursement of transportation,.

Expert System Diagnosis of Cataract Eyes Using Fuzzy Mamdani Method

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Santosa, I.; Romla, L.; Herawati, S.

2018-01-01

Cataracts are eye diseases characterized by cloudy or opacity of the lens of the eye by changing the colour of black into grey-white which slowly continues to grow and develop without feeling pain and pain that can cause blindness in human vision. Therefore, researchers make an expert system of cataract eye disease diagnosis by using Fuzzy Mamdani and how to care. The fuzzy method can convert the crisp value to linguistic value by fuzzification and includes in the rule. So this system produces an application program that can help the public in knowing cataract eye disease and how to care based on the symptoms suffered. From the results of the design implementation and testing of expert system applications to diagnose eye disease cataracts, it can be concluded that from a trial of 50 cases of data, obtained test results accuracy between system predictions with expert predictions obtained a value of 78% truth.

Cataract surgery in juvenile xanthogranuloma: Case report and a brief review of literature

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R Muralidhar

2013-01-01

Full Text Available There is limited literature on the management of cataracts in juvenile xanthogranuloma (JXG. A 2-month-old girl presented to us with hyphema, secondary glaucoma OU and skin nodules suggestive of JXG. She developed bilateral cataracts during her follow-up and was treated successfully with cataract surgery and aphakic rehabilitation.

[Femtosecond laser in cataract surgery. A critical appraisal].

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Menapace, R M; Dick, H B

2014-01-01

The use of femtosecond lasers (FSL) is increasingly spreading in cataract surgery. Potential advantages over standard manual cataract surgery are the superior precision of corneal incisions and capsular openings as well as the reduction of ultrasound energy for lens nucleus work-up. Exact positioning and dimensioning of the anterior capsular opening should help reduce decentration and tilt of the intraocular lens (IOL) optics and thus achieve better target refraction. Together with the possibility to correct low-grade corneal astigmatism by precise arcuate incision, FSL technology is expected to convert cataract surgery from a purely curative into a refractive procedure. Apart from own experiences this review article critically analyses the pertinent literature published so far as well as congress presentations and personal reports of other FSL surgeons. The advantages and disadvantages are scrutinized with regard to their impact on the surgical and refractive results and compared with those experienced by the authors with manual cataract surgery over several decades. Economic and healthcare political aspects are also addressed. The use of FSL surgery improves the precision and reproducibility of corneal incisions and the capsular opening and reduces the amount of ultrasound energy required for lens nucleus work-up. However, the clinical benefits must be put into perspective due to the subsequent surgical manipulation of the incisions (during lens emulsification, aspiration and IOL injection), the lacking possibility to visualize the crystalline lens equator as the reference for correct capsulotomy centration and the relativity of ultrasound energy consumption on the corneal endothelial trauma. This is of particular relevance against the background of the significantly higher costs. Conversely, tears of the anterior capsule edge which, apart from interfering with correct IOL positioning, may entail serious complications presently occur more frequently with all FSL

Principles and paradigms of pediatric cataract management

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Basti Surendra

1995-01-01

Full Text Available Propensity for increased postoperative inflammation and capsular opacification, a refractive state that is constantly in a state of flux due to growth of the eye, difficulty in documenting anatomic and refractive changes due to poor compliance, and a tendency to develop amblyopia, makes management of cataract in the child different from that in the adult. The recent past has unraveled several caveats of pediatric cataract management - the importance of atraumatic surgery and complete removal of lens matter, benefits of in-the-bag intraocular lens(IOL implantation, role of titrating IOL power to counter refractive changes due to growth of the eye, prudery of continuously following these eyes for early detection of aphakic glaucoma and benefits of some surgical innovations. Although these promise to significantly improve our management of pediatric cataract, their long-term benefits are yet to be determined. We will also have to harness newer techniques, especially in the areas of wound construction and capsule management, and will have to develop effective strategies for the refractive management of infantile aphakia.

Differences in Physical Activity during School Recess

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Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer

2011-01-01

Background: School recess provides a daily opportunity for physical activity engagement. The purpose of this study was to examine physical activity levels during recess by gender, ethnicity, and grade, and establish the contribution of recess to daily school physical activity levels. Methods: Two hundred and ten children (45% boys) from grades 3…

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

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Seçil Arslansoyu Çamlar

2013-03-01

Full Text Available Chanarin-Dorfman syndrome (CDS is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear.

Loss of col8a1a Function during Zebrafish Embryogenesis Results in Congenital Vertebral Malformations

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Gray, Ryan S.; Wilm, Thomas; Smith, Jeff; Bagnat, Michel; Dale, Rodney M.; Topczewski, Jacek; Johnson, Stephen L.; Solnica-Krezel, Lilianna

2014-01-01

Congenital vertebral malformations (CVM) occur in 1 in 1,000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles (m531, vu41, vu105) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue. PMID:24333517

Efficacy of biodegradable curcumin nanoparticles in delaying cataract in diabetic rat model.

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Grama, Charitra N; Suryanarayana, Palla; Patil, Madhoosudan A; Raghu, Ganugula; Balakrishna, Nagalla; Kumar, M N V Ravi; Reddy, Geereddy Bhanuprakash

2013-01-01

Curcumin, the active principle present in the yellow spice turmeric, has been shown to exhibit various pharmacological actions such as antioxidant, anti-inflammatory, antimicrobial, and anti-carcinogenic activities. Previously we have reported that dietary curcumin delays diabetes-induced cataract in rats. However, low peroral bioavailability is a major limiting factor for the success of clinical utilization of curcumin. In this study, we have administered curcumin encapsulated nanoparticles in streptozotocin (STZ) induced diabetic cataract model. Oral administration of 2 mg/day nanocurcumin was significantly more effective than curcumin in delaying diabetic cataracts in rats. The significant delay in progression of diabetic cataract by nanocurcumin is attributed to its ability to intervene the biochemical pathways of disease progression such as protein insolubilization, polyol pathway, protein glycation, crystallin distribution and oxidative stress. The enhanced performance of nanocurcumin can be attributed probably to its improved oral bioavailability. Together, the results of the present study demonstrate the potential of nanocurcumin in managing diabetic cataract.

Efficacy of biodegradable curcumin nanoparticles in delaying cataract in diabetic rat model.

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Charitra N Grama

Full Text Available Curcumin, the active principle present in the yellow spice turmeric, has been shown to exhibit various pharmacological actions such as antioxidant, anti-inflammatory, antimicrobial, and anti-carcinogenic activities. Previously we have reported that dietary curcumin delays diabetes-induced cataract in rats. However, low peroral bioavailability is a major limiting factor for the success of clinical utilization of curcumin. In this study, we have administered curcumin encapsulated nanoparticles in streptozotocin (STZ induced diabetic cataract model. Oral administration of 2 mg/day nanocurcumin was significantly more effective than curcumin in delaying diabetic cataracts in rats. The significant delay in progression of diabetic cataract by nanocurcumin is attributed to its ability to intervene the biochemical pathways of disease progression such as protein insolubilization, polyol pathway, protein glycation, crystallin distribution and oxidative stress. The enhanced performance of nanocurcumin can be attributed probably to its improved oral bioavailability. Together, the results of the present study demonstrate the potential of nanocurcumin in managing diabetic cataract.

Patient satisfaction with cataract surgery

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Wasfi Ehab I

2008-10-01

Full Text Available Abstract Introduction Measuring the patient satisfaction is a very important issue that will help very much in improving the service provided to patients and improve the level of satisfaction. Aim To evaluate patient satisfaction with the cataract surgery service and identify any areas for improvement, determination of patient satisfaction with referral, out-patient consultation, pre-assessment clinic, surgery and post-operative care, also to report patients' comments relating to improvement in service provision. Methodology A retrospective study was undertaken for 150 patients underwent cataract surgery at Barrow General Hospital, UK, the survey sample was by postal questionnaires. We collected our data from the theatre lists for a period of 4 month. Results This study included 150 patients; the response rate was (72% 108 patients, Most patients were referred from their general practitioner 86.1%, 93 (86.1% patients were happy with the time interval from seeing their GP to eye clinic. In the eye out patient department many factors significantly affected the level of patient satisfaction, in general the more information provided for the patient the more the satisfaction. Conclusion Patient satisfaction is on important health outcome old understanding both the domains of satisfaction as well as their relative importance to patients is necessary to improve the overall quality of patient care. Meeting the doctor, presenting all relevant information and giving printed information are very important factors in improving the patient's satisfaction with cataract surgery.

The Impact of Cataract Surgery on Subjective Visual Functions and ...

African Journals Online (AJOL)

Purpose: To determine the impact of cataract surgery on visual functions (VFs) and quality of life (QoL) in patients with cataract at the National Eye Center, Kaduna. Methods: VFs and QoL questionnaires were administered to the patients preoperatively and 6 weeks postoperatively. Correlation was assessed among ...

Delay in Surgical Uptake for Cataract Services in a Pediatric ...

African Journals Online (AJOL)

tulyasys

(19%). These differences were statistically significant. (P = 0.027). Regarding laterality, out of 34, 27 (79%) children with bilateral cataracts were presented for surgery and that of 42, 29 (69%) children with unilateral cataracts were presented for the examination, however, the differences were statistically insignificant (P = 0.3) ...

Solar cataract: A clinical report | Ahuama | Journal of Health and ...

African Journals Online (AJOL)

Solar Ultraviolet radiation is caractogenic, as there is increasing evidence implicating ultraviolet radiation as a risk factor in the aetiology of cataracts. Through absorption from sunlight exposure especially into the violet and of the visible range of the solar spectrum, cataract formation may occur due to physiochemical ...

Topical anesthesia: possible risk factor for endophthalmitis after cataract extraction.

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Garcia-Arumi, Jose; Fonollosa, Alex; Sararols, Laura; Fina, Francesc; Martínez-Castillo, Vicente; Boixadera, Ana; Zapata, Miguel A; Campins, Magda

2007-06-01

To assess the relationship between the risk for acute endophthalmitis after cataract extraction and whether certain factors, such as surgeon qualification, numerical order, duration of surgery, operating theater, and type of anesthesia (topical or retrobulbar), could be modified to decrease the risk. Single-center academic practice. Two epidemiological studies were performed: a case-control study and a retrospective cohort study. The surgical records of all patients with clinically diagnosed endophthalmitis within 30 days after cataract surgery performed between February 2002 and September 2003 were reviewed. The endophthalmitis cases were compared with 108 randomly selected controls (4 controls per case). The global incidence of endophthalmitis and the incidence according to type of anesthesia were calculated. Of 5011 cataract extractions performed, 27 cases of endophthalmitis occurred. The incidence was 5.39 per 1000 procedures. An independent statistically significant relationship was found between endophthalmitis and the use of topical anesthesia (odds ratio [OR], 11.8; 95% confidence interval [CI], 2.4-58.7) and surgery longer than 45 minutes (OR, 7.2; 95% CI, 1.7-29.7) but not between the other variables. The incidence of endophthalmitis was 1.8 per 1000 cataract extractions with retrobulbar anesthesia and 6.76 per 1000 with topical anesthesia (relative risk [RR], 3.76; 95% CI, 0.89-15.85). After the start of the study period was extended to May 2001, the incidence of endophthalmitis was 1.3 per 1000 cataract extractions with retrobulbar anesthesia and 8.7 per 1000 with topical anesthesia (RR, 6.72; 95% CI, 1.63-27.63). Results suggest that there may be an association between topical anesthesia and endophthalmitis after cataract extraction.

Nutrient patterns and risk of cataract: a case-control study

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Fatemeh Sedaghat

2017-04-01

Full Text Available AIM: To assess the relation between nutrient patterns and cataract risk. METHODS: This is a hospital-based case-control study with 97 cataract patients and 198 matched controls. Dietary consumption was collected through a valid food frequency questionnaire (FFQ. Nutrient patterns were detected by applying factor analysis. Unconditional logistic regression models were used to estimate odds ratio (ORs and 95%CIs. RESULTS: We extracted 5 main nutrient patterns. Factor 1 included niacin, thiamin, carbohydrates, protein, zinc, vitamin B6 and sodium (sodium pattern. Factor 2 was characterized by oleic acid, monounsaturated fats, polyunsaturated fats, linoleic acid, trans fatty acid, linolenic acid, vitamin E and saturated fats (fatty acid pattern. The third factor represented high intake of vitamin B12, vitamin D, cholesterol and calcium (mixed pattern. The 4th pattern was high in intake of beta and alpha carotene, vitamin A and vitamin C (antioxidant pattern. Finally, the 5th pattern loaded heavily on docosahexaenoic acid (DHA and eicosapentaenoic acid (EPA (omega-3 pattern. In crude and multivariate analysis, the sodium pattern was associated with increased risk of cataract (OR=1.97, 95%CI: 1.09-3.96. The fatty acid pattern elevated the risk of cataract (OR=1.94, 95%CI: 1.1-3.86. Antioxidant pattern was associated with a significant 79% reduced risk (2nd category compared with the 1st. Omega-3 pattern was significantly negatively associated with risk of cataract (P=0.04. CONCLUSION: These findings imply that nutrient patterns reflecting a combined consumption of nutrients might be important in the etiology of cataract. Additional studies with more efficient designs are warranted to confirm our findings.

Patient's experiences with quality of hospital care: the Dutch Consumer Quality Index Cataract Questionnaire.

NARCIS (Netherlands)

Stubbe, J.H.; Brouwer, W.; Delnoij, D.M.J.

2007-01-01

BACKGROUND: Patients' feedback is of great importance in health care policy decisions. The Consumer Quality Index Cataract Questionnaire (CQI Cataract) was used to measure patients' experiences with quality of care after a cataract operation. This study aims to evaluate the reliability and the

Resident and young physician experience with complex cataract surgery and new cataract and refractive technology: Results of the ASCRS 2016 Young Eye Surgeons survey.

Science.gov (United States)

Schallhorn, Julie M; Ciralsky, Jessica B; Yeu, Elizabeth

2017-05-01

A survey was offered to attendees of the 2016 annual meeting of the American Society of Cataract and Refractive Surgery (ASCRS) as well as online to ASCRS members. Of the 429 self-identified surgeons in training or those with fewer than 5 years in practice, 83% had performed complex cataract surgery using iris expansion devices or capsular tension rings (63%) and 70% had implanted a toric intraocular lens (IOL). A minority of respondents had performed laser-assisted cataract surgery (27%) or implanted presbyopia-correcting IOLs (39%), and only half (50%) had performed laser vision correction (LVC). Comfort with complex cataract and IOL procedures improved with increasing number of cases performed until greater than 10 cases. From this we can conclude that young surgeons have adequate exposure to complex cataracts but lack experience in refractive surgery and new IOL technology. Reported surgeon confidence improved with increased experience and exposure. Copyright © 2017 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

Science.gov (United States)

Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

2013-11-01

The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

Optimization of surgical treatment of cataract in patients with diabetes mellitus

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Dmitriy Valentinovich Lipatov

2010-06-01

Full Text Available Aim. To compare different methods for surgical treatment of cataract in patients with diabetes melli-tus (DM and substantiate the choice of its optimalmodality. Materials and methods. Analysis included data on 209 patients (221 eyes treated from January 2008 to December 2009 in the Department ofRetinopathy and Ophthalmosurgey, Endocrinological Research Centre. Diabetic cataract was managed using UNIVERSAL-II, LEGACY EVEREST,and INFINITI phacoemulsifiers. Parameters studied included time of ultrasound (US ex-posure, US power, and retinal characteristics in the earlypostoperative period. In addition, analysis included data on the location of lens opacity in 1047 patients (1897 eyes with diabetic cataract. Results. Relatively low corrected and uncorrected visual acuity in the early postoperative period was attributable to concomitant DM-related retinalpathology. Analysis of lenticular opacity showed that it in the first place affected collagen fibers beneath the posterior capsule. The use of torsional USin INFINITI for cataract phacoemulsification produced almost 4-fold reduction in the exposure time of ocular tissues. As a result, the postoperativeoedema was significantly smaller than in patients undergoing combined treatment (AQUALASE hydromonitoring and OZIL ultrasound system. Conclusion. Combination of ultrasound and hydromonitoring phacoemulsification for the treatment of cataract in DM patients reduces exposure timeof ocular tissues and postoperative oedema which creates prerequisites for faster recovery of visual acuity after surgery. Functional results of surgicaltreatment of diabetic cataract can be further improved by early diagnosis of lens opacity and the use of US and hydromonitoring phacoemulsificationtechniques.

Modified adjustable suture hang-back recession: Description of technique and comparison with conventional adjustable hang-back recession

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Siddharth Agrawal

2017-01-01

Full Text Available Purpose: This study aims to describe and compare modified hang-back recession with the conventional hang-back recession in large angle comitant exotropia (XT. Methods: A prospective, interventional, double-blinded, randomized study on adult patients (>18 years undergoing single eye recession-resection for large angle (>30 prism diopters constant comitant XT was conducted between January 2011 and December 2015. Patients in Group A underwent modified hang-back lateral rectus recession with adjustable knot while in Group B underwent conventional hang-back recession with an adjustable knot. Outcome parameters studied were readjustment rate, change in deviation at 6 weeks, complications and need for resurgery at 6 months. Results: The groups were comparable in terms of age and preoperative deviation. The patients with the modified hang back (Group A fared significantly better (P < 0.05 than those with conventional hang back (Group B in terms of lesser need for adjustment, greater correction in deviation at 6 weeks and lesser need for resurgery at 6 months. Conclusion: This modification offers several advantages, significantly reduces resurgery requirement and has no added complications.

Prevalence of pterygium and cataract in indigenous populations of the Brazilian Amazon rain forest.

Science.gov (United States)

Paula, J S; Thorn, F; Cruz, A A V

2006-05-01

To compare the prevalence of pterygium and cataract in four indigenous populations of the Brazilian Amazonian rain forest (Arawak, Tukano, Maku, and Yanomami) with different ethnic and social behaviour backgrounds. A cross-sectional pterygium and cataract survey was performed in 624 adult Indians of the Brazilian rain forest belonging to four different ethnic groups. The Indians were classified according to their social behaviour in two groups: Arawak and Tukano (group 1) and Maku and Yanomami (group 2). Slit-lamp biomicroscopy was employed to examine the entire sample. All subjects were classified as 1 or 0 according to the presence or absence pterygium and cataract. Sex and age were also recorded. chi(2)-tests revealed that the prevalence of pterygium and cataract differed significantly between groups 1 and 2. For pterygia: 36.6% (97/265) and 5.0% (18/359), respectively (chi(2)=101.2, P<0.0001), and for cataracts: 24.5% (65/265) and 13.7% (49/359) respectively (chi(2)=12.09, P=0.0005). Gender was not associated with pterygium (P=0.1326) and cataract (P=0.2263) in both groups. Elderly subjects showed a significantly higher prevalence of cataract (P<0.0001). The prevalence of pterygia did not increase with age (P=0.8079) in both groups. Indians of group 1 have higher prevalence of pterygia and cataract than Indians of group 2. Social behaviour, especially the rate of sun exposure, appears to be the main factor for the different rates of pterygium and cataract displayed by these indigenous people of the Brazilian rain forest.

Cataract production in mice by heavy charged particles

International Nuclear Information System (INIS)

Ainsworth, E.H.; Jose, J.; Yang, V.V.; Barker, M.E.

1981-03-01

The cataractogenic effects of heavy charged particles have been evaluated in mice in relation to dose and ionization density (LET/sub infinity/). The study was undertaken due to the high potential for eye exposures to HZE particles among SPS personnel working in outer space. This has made it imperative that the relative biological effectiveness (RBE) in relation to LET/sub infinity/ for various particles be defined so that appropriate quality factors (Q) could be assigned for estimation of risk. Although mice and men differ in susceptibility to radiation-induced cataracts, the results from this project should assist in defining appropriate quality factors in relation to LET/sub infinity/, particle mass, charge, or velocity. Evaluation of results indicated that : (1) low single doses (5 to 20 rad) of iron ( 56 Fe) or argon ( 40 Ar) particles are cataractogenic at 11 to 18 months after irradiation; (2) onset and density of the opacification are dose related; (3) cataract density (grade) at 9, 11, 13, and 16 months after irradiation shows partial LET/sub infinity/-dependence; and (4) the severity of cataracts is reduced significantly when 417 rad of 60 Co gamma radiation is given in 24 weekly 17 rad fractions compared to giving this radiation as a single dose, but cataract severity is not reduced by fractionation of 12 C doses over 24 weeks

Congenital muscular dystrophies--problems of classification.

Science.gov (United States)

Lenard, H G

1991-04-01

The classification of congenital muscular dystrophies (CMD), based on perceived clinical and morphological similarities or differences, is controversial. CMD without cerebral involvement has sometimes been divided into a mild and a severe form. This distinction is, however, arbitrary and not uncontested. Whether Ullrich's disease, formerly called atonic-sclerotic dystrophy, is a disease entity and if so, whether it is a primary muscle disorder, is uncertain. CMD without cerebral involvement is inherited in an autosomal recessive fashion in the great majority of cases. CMDs with cerebral involvement are usually classified into at least three forms: the Fukuyama type of CMD, occurring almost exclusively in Japanese patients; CMD with hypomyelination, sometimes also called the occidental type of cerebromuscular dystrophy; and Walker-Warburg syndrome. Muscle-eye-brain disease, described in a number of Finnish patients, may or may not belong in this last category. In CMD with cerebral involvement inheritance is also autosomal recessive. It is possible that single sporadic cases are phenocopies due to infectious or other exogenous causes. Reports of clinical and morphological findings from an increasing number of patients show a high degree of variability within and, on the other hand, certain similarities between the forms of CMD with cerebral involvement. In addition, neuroradiological changes are also found with increasing frequency in CMD patients without clinical neuropsychological abnormalities. It is not unreasonable to speculate that molecular genetic techniques will reveal in the near future a variable defect in one gene locus or defects in a few gene loci as the cause of the various clinical forms of CMDs.

Rubella and Congenital Rubella Syndrome in the Philippines: A Systematic Review

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Anna Lena Lopez

2016-01-01

Full Text Available Background. As part of regional elimination efforts, rubella-containing vaccines (RCV have recently been introduced in the Philippines, yet the true burden of rubella and congenital rubella syndrome (CRS in the country is largely unknown. Objective. To provide baseline information on rubella and CRS prior to routine vaccine introduction in the Philippines. Methods. We conducted a systematic literature review on rubella and CRS in the Philippines, including a cross-sectional study conducted in 2002 among 383 pregnant women attending the obstetric outpatient clinic of the Philippine General Hospital to assess rubella susceptibility of women of childbearing age. Results. 15 locally published and unpublished studies were reviewed. Susceptibility to rubella among women of childbearing age was higher in rural communities. Retrospective reviews revealed congenital heart diseases, cataracts, and hearing impairments to be most common presentations in children of CRS. In the cross-sectional study, 59 (15.4% of the 383 pregnant women enrolled were seronegative for rubella IgG. Conclusion. Similar to other countries introducing RCV, it was only recently that surveillance for rubella has been established. Previous studies show substantial disabilities due to CRS and a substantial proportion of susceptible women who are at risk for having babies affected with CRS. Establishment of CRS surveillance and enhanced awareness on rubella case detection should be prioritized.

Inadvertent filtering bleb following sutureless cataract surgery

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Jain Sunil

2005-01-01

Full Text Available The case history of a sixty-two-year-old lady, who presented with a bleb in the upper part of her left eye following cataract surgery was studied. The patient had no prior history of any glaucoma surgery. Gonioscopy revealed fishmouthing of the internal aspect of the scleral tunnel incision. The diagnosis of post-cataract filtering bleb was made which was managed by resuturing the wound. This case highlights the use of gonioscopy to visualise and evaluate the internal wound and discusses intraoperative recognition of internal leak and its management with horizontal sutures.

Prevalence of lens opacity at Queen Elizabeth Central Hospital in ...

African Journals Online (AJOL)

Laterality is reported probably for the first time in Central Africa - bilateral cataracts being more common than unilateral ones, and the leading cause of cataracts in adults was senility whereas congenital cataracts were commoner in children. The prevalence increased with age, males being affected more than females.

The challenges in improving outcome of cataract surgery in low and middle income countries

Science.gov (United States)

Lindfield, Robert; Vishwanath, Kalluru; Ngounou, Faustin; Khanna, Rohit C

2012-01-01

Cataract is the leading cause of blindness globally and surgery is the only known measure to deal with it effectively. Providing high quality cataract surgical services is critical if patients with cataract are to have their sight restored. A key focus of surgery is the outcome of the procedure. In cataract surgery this is measured predominantly, using visual acuity. Population- and hospital-based studies have revealed that the visual outcome of cataract surgery in many low and middle income settings is frequently sub-optimal, often failing to reach the recommended standards set by the World Health Organization (WHO). Another way of measuring outcome of cataract surgery is to ask patients for their views on whether surgery has changed the functioning of their eyes and their quality of life. There are different tools available to capture patient views and now, these patient-reported outcomes are becoming more widely used. This paper discusses the visual outcome of cataract surgery and frames the outcome of surgery within the context of the surgical service, suggesting that the process and outcome of care cannot be separated. It also discusses the components of patient-reported outcome tools and describes some available tools in more detail. Finally, it describes a hierarchy of challenges that need to be addressed before a high quality cataract surgical service can be achieved. PMID:22944761

Association of vitamin C with the risk of age-related cataract: a meta-analysis.

Science.gov (United States)

Wei, Lin; Liang, Ge; Cai, Chunmei; Lv, Jin

2016-05-01

Whether vitamin C is a protective factor for age-related cataract remains unclear. Thus, we conducted a meta-analysis to summarize the evidence from epidemiological studies of vitamin C and the risk of age-related cataract. Pertinent studies were identified by searching in PubMed and in Webscience. The random effect model was used to combine the results. Meta-regression and subgroups analyses were used to explore potential sources of between-study heterogeneity. Publication bias was estimated using Egger's regression asymmetry test. Finally, 15 articles with 20 studies for vitamin C intake and eight articles with 10 studies for serum ascorbate were included in this meta-analysis. The relative risk (RR) and 95% confidence interval of cataract for the highest versus the lowest category of vitamin C intake was 0.814 (0.707-0.938), and the associations were significant in America and Asia. Significant association of cataract risk with highest versus the lowest category of serum ascorbate was found in general [0.704 (0.564-0.879)]. Inverse associations were also found between serum ascorbate and nuclear cataract and posterior subcapsular cataract. Higher vitamin C intake and serum ascorbate might be inversely associated with risk of cataract. Vitamin C intake should be advocated for the primary prevention of cataract. © 2015 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

The challenges in improving outcome of cataract surgery in low and middle income countries

Directory of Open Access Journals (Sweden)

Robert Lindfield

2012-01-01

Full Text Available Cataract is the leading cause of blindness globally and surgery is the only known measure to deal with it effectively. Providing high quality cataract surgical services is critical if patients with cataract are to have their sight restored. A key focus of surgery is the outcome of the procedure. In cataract surgery this is measured predominantly, using visual acuity. Population- and hospital-based studies have revealed that the visual outcome of cataract surgery in many low and middle income settings is frequently sub-optimal, often failing to reach the recommended standards set by the World Health Organization (WHO. Another way of measuring outcome of cataract surgery is to ask patients for their views on whether surgery has changed the functioning of their eyes and their quality of life. There are different tools available to capture patient views and now, these patient-reported outcomes are becoming more widely used. This paper discusses the visual outcome of cataract surgery and frames the outcome of surgery within the context of the surgical service, suggesting that the process and outcome of care cannot be separated. It also discusses the components of patient-reported outcome tools and describes some available tools in more detail. Finally, it describes a hierarchy of challenges that need to be addressed before a high quality cataract surgical service can be achieved.

Gingival recession: a cross-sectional clinical investigation.

Science.gov (United States)

Goutoudi, P; Koidis, P T; Konstantinidis, A

1997-06-01

In this cross-sectional study, risk and potentially causative factors of gingival recession were examined and their relationship to apical migration of the gingival margin evaluated. Thirty eight patients (18-60 years), displaying one or more sites with gingival recession but without any significant periodontal disease participated. A total of 28 parameters were evaluated in both 'test' teeth (50 teeth with gingival recession) and 'control' teeth (50 contralateral teeth). The results revealed that gingival margin recession was associated with both high inflammatory and plaque scores, with decreased widths of keratinized and attached gingiva and with the subjects' toothbrush bristle hardness.

Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.

Science.gov (United States)

Gong, Bo; Zhang, Li-Yun; Lam, Dennis Shun-Chiu; Pang, Chi-Pui; Yam, Gary Hin-Fai

2010-06-04

gammaD-Crystallin (CRYGD) is a major structural lens crystallin and its mutations result in congenital cataract formation. In this study, we attempted to correct the altered protein features of G165fsX8 CRYGD protein with small chemical molecules. Recombinant FLAG-tagged mutants (R15C, R15S, P24T, R61C, and G165fsX8) of CRYGD were expressed in COS-7 cells and treated with small chemical molecules with reported protein chaperoning properties (sodium 4-phenylbutyrate [4-PBA], trimethylamine N-oxide [TMAO], and glycerol and DMSO [DMSO]). Protein solubility in 0.5% Triton X-100 and subcellular distribution was examined by western blotting and immunofluorescence, respectively. Apoptosis was assayed as the percentage of fragmented nuclei in transfected cells. Expression of heat-shock proteins (Hsp70 and Hsp90) was examined by reverse transcription-polymerase chain reaction analysis. Unlike WT and most mutants (R15C, R15S, P24T, and R61C) of CRYGD, G165fsX8 CRYGD was significantly insoluble in 0.5% Triton X-100. This insolubility was alleviated by dose-dependent 4-PBA treatment. The treatment relieved the mislocalization of G165fsX8 CRYGD from the nuclear envelope. Also, 4-PBA treatment reduced cell apoptosis and caused an upregulation of Hsp70. 4-PBA treatment reduced the defective phenotype of mutant G165fsX8 CRYGD and rescued the affected cells from apoptosis. This could be a potential treatment for lens structural protein and prevent lens opacity in cataract formation.

The relationship between disability-adjusted life years of cataracts and ambient erythemal ultraviolet radiation in China.

Science.gov (United States)

Zhu, Min; Yu, Jiaming; Gao, Qian; Wang, Yang; Hu, Liwen; Zheng, Yang; Wang, Fang; Liu, Yang

2015-01-01

Cataracts are one of the major public health problems worldwide. Ultraviolet radiation (UVR) is one of the risk factors for cataract development. We analyzed the relationship between disability-adjusted life year (DALY) rates of cataracts and UVR exposure in China. DALY rates of cataracts and UVR exposure in 31 regions of China were calculated based on data from the Second China National Sample Survey on Disability and the United States' National Aeronautics and Space Administration database. The relationship between the DALY rates of cataracts and UVR was estimated by Spearman rank correlation analysis and linear regression analysis. The elderly (≥ 65 years) had higher DALY rates of cataracts than the whole population. The DALY rate of cataracts in the agricultural population was higher than that observed in the non-agricultural population. The DALY rates of cataracts were positively associated with UVR The DALY rates of cataracts in regions with higher UVR were higher than those in regions with lower UVR. An increase in the daily ambient erythemal UVR of 1000 J/m(2) was associated with an increase in the DALY rates of cataracts by 92 DALYs/100 000 (R(2) = 0.676) among the whole population, 34 DALYs/100 000 among the population population aged 65-74 years (R(2) = 0.617), and by 1342 DALYs/100 000 among the population ≥ 75 years old (R(2) = 0.758). DALY rates of cataracts increased with increases in UVR exposure in 31 regions of China. Greater exposure to UVR increases the disease burden of cataracts in the whole population, especially in the elderly and among the agricultural population.

Phacoemulsificatıon in eyes wıth cataract and high myopia

OpenAIRE

Cetinkaya,Servet; Acir,Nursen Oncel; Cetinkaya,Yasemin Fatma; Dadaci,Zeynep; Yener,Halil İbrahim; Saglam,Faik

2015-01-01

ABSTRACTPurpose:To evaluate the outcomes and complications following phacoemulsification surgery in eyes with cataract and high myopia.Methods:We retrospectively evaluated the data of 43 eyes of 28 consecutive patients (12 males, 16 females) with cataract and high myopia who had undergone phacoemulsification and intraocular lens (IOL) implantation. The mean [± standard deviation (range)] age of the patients was 59.20 ± 11.08 (39-77) years.Results:The frequency of nuclear cataract was signific...

The role of imaging in congenital adrenal hyperplasia

International Nuclear Information System (INIS)

Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge; Elias, Paula Condé Lamparelli

2014-01-01

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

The role of imaging in congenital adrenal hyperplasia

Energy Technology Data Exchange (ETDEWEB)

Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge, E-mail: jejunior@fmrp.usp.br [Department of Internal Medicine, Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo (FMRP-USP), Ribeirao Preto, SP (Brazil); Elias, Paula Condé Lamparelli [Department of Internal Medicine, Division of Endocrinology, Clinical Hospital, FMRP-USP, Ribeirao Preto, SP (Brazil)

2014-10-15

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

Low-Dose Radiation Cataract and Genetic Determinants of Radiosensitivity

Energy Technology Data Exchange (ETDEWEB)

Kleiman, Norman Jay [Columbia University

2013-11-30

The lens of the eye is one of the most radiosensitive tissues in the body. Ocular ionizing radiation exposure results in characteristic, dose related, progressive lens changes leading to cataract formation. While initial, early stages of lens opacification may not cause visual disability, the severity of such changes progressively increases with dose until vision is impaired and cataract extraction surgery may be required. Because of the transparency of the eye, radiation induced lens changes can easily be followed non-invasively over time. Thus, the lens provides a unique model system in which to study the effects of low dose ionizing radiation exposure in a complex, highly organized tissue. Despite this observation, considerable uncertainties remain surrounding the relationship between dose and risk of developing radiation cataract. For example, a growing number of human epidemiological findings suggest significant risk among various groups of occupationally and accidentally exposed individuals and confidence intervals that include zero dose. Nevertheless, questions remain concerning the relationship between lens opacities, visual disability, clinical cataract, threshold dose and/or the role of genetics in determining radiosensitivity. Experimentally, the response of the rodent eye to radiation is quite similar to that in humans and thus animal studies are well suited to examine the relationship between radiation exposure, genetic determinants of radiosensitivity and cataractogenesis. The current work has expanded our knowledge of the low-dose effects of X-irradiation or high-LET heavy ion exposure on timing and progression of radiation cataract and has provided new information on the genetic, molecular, biochemical and cell biological features which contribute to this pathology. Furthermore, findings have indicated that single and/or multiple haploinsufficiency for various genes involved in DNA repair and cell cycle checkpoint control, such as Atm, Brca1 or Rad9

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

Science.gov (United States)

Gal, Moran; Levanon, Erez Y; Hujeirat, Yasir; Khayat, Morad; Pe'er, Jacob; Shalev, Stavit

2014-12-01

Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above-mentioned conditions and compatible with autosomal recessive inheritance. Exome sequencing identified a novel c.542G > T (p.C181F) apparently mutation in the TSPAN12 gene that segregated with the ocular disease in the family. The TSPAN12 gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra-familial clinical variability caused by a single mutation in the TSPAN12 gene underscores the complicated phenotype-genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin/β-catenin signaling pathway. © 2014 Wiley Periodicals, Inc.

Serum Antioxidative Enzymes Levels and Oxidative Stress Products in Age-Related Cataract Patients

Directory of Open Access Journals (Sweden)

Dong Chang

2013-01-01

Full Text Available Purpose. To investigate the activity of antioxidative enzymes and the products of oxidative stress in patients with age-related cataracts and compare the findings with those in healthy control subjects. Method. Sixty patients with age-related cataract and sixty healthy controls of matched age and gender were included in this study. Serum samples were obtained to detect the antioxidative enzymes of superoxide dismutase (SOD, catalase (CAT, and glutathione peroxidase (GSH-Px, and oxidation degradation products of malondialdehyde (MDA, 4-hydroxynonenal (4-HNE, conjugated diene (CD, advanced oxidation protein products (AOPP, protein carbonyl (PC, and 8-hydroxydeoxyguanosine (8-OHdG. Results. Serum SOD, GSH-Px, and CAT activities in cataract group were significantly decreased as compared to the control subjects (P<0.05. The levels of MDA, 4-HNE, and CD in cataract patients were significantly higher than those in the control subjects (P<0.05, P<0.01. Cataract patients had higher levels of 8-OHdG, AOPP, and PC with respect to the comparative group of normal subjects (P<0.01. And there was no statistical significance in concentration of antioxidative enzymes and oxidative stress products in patients with different subtype cataract. Conclusions. Oxidative stress is an important risk factor in the development of age-related cataract, and augmentation of the antioxidant defence systems may be of benefit to prevent or delay cataractogenesis.

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Science.gov (United States)

van der Ven, Amelie T; Vivante, Asaf; Hildebrandt, Friedhelm

2018-01-01

Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans. Copyright © 2018 by the American Society of Nephrology.

Influence of taurine on the dynamics of the development of experimental cataracts in animals

International Nuclear Information System (INIS)

Fedorenko, B.S.; Kabachenko, A.N.; Yartsev, E.I.; Kolesnikov, Yu.A.; Vajnshtejn, E.S.

1978-01-01

The influence of taurine on the development of radiation cataracts in white raceless rats and mice of the F1 line, the prophylactic taurine effect on the frequency of radiation cataracts as well as the therapeutical effectiveness of taurine and vita-jodurol were examined under comparative aspects. The development of cataracts was induced by whole-body irradiation with 645 MeV protons and 60 Co gamma radiation in doses of 100, 200 and 300 rad as well as by local irradiation of the head with protons of the same energy and a dose of 1,000 rad. It is shown that prophylactic instillation of a 4% taurine solution in the course of 2 to 4 weeks leads to a significant decrease of cataract frequency, to partial regression of cataracts at the initial stage, and to retardation of ripening. The application of taurine eye-drops during one month after irradiation leads to an attenuated cataractogenic radiation effect. Vita-jorudol has no therapeutic effect on the radiation cataract. (author)

Antioxidant vitamin supplementation for preventing and slowing the progression of age-related cataract.

Science.gov (United States)

Mathew, Milan C; Ervin, Ann-Margret; Tao, Jeremiah; Davis, Richard M

2012-06-13

Age-related cataract is a major cause of visual impairment in the elderly. Oxidative stress has been implicated in its formation and progression. Antioxidant vitamin supplementation has been investigated in this context. To assess the effectiveness of antioxidant vitamin supplementation in preventing and slowing the progression of age-related cataract. We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (The Cochrane Library 2012, Issue 2), MEDLINE (January 1950 to March 2012), EMBASE (January 1980 to March 2012), Latin American and Caribbean Literature on Health Sciences (LILACS) (January 1982 to March 2012), Open Grey (System for Information on Grey Literature in Europe) (www.opengrey.eu/), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov) and the WHO International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). There were no date or language restrictions in the electronic searches for trials. The electronic databases were last searched on 2 March 2012. We also checked the reference lists of included studies and ongoing trials and contacted investigators to identify eligible randomized trials. We included only randomized controlled trials in which supplementation with one or more antioxidant vitamins (beta-carotene, vitamin C and vitamin E) in any form, dosage or combination for at least one year was compared to another antioxidant vitamin or to placebo. Two authors extracted data and assessed trial quality independently. We pooled results for the primary outcomes, i.e., incidence of cataract and incidence of cataract extraction. We did not pool results of the secondary outcomes - progression of cataract and loss of visual acuity, because of differences in definitions of outcomes and data presentation. We pooled results by type of cataract when data were available. We did not perform a sensitivity analysis. Nine trials involving 117

One-year outcomes of AquaLase cataract surgery.

Science.gov (United States)

Yoo, Sonia H; Bhatt, Anand B

2007-01-01

The authors report surgical experience and clinical outcomes up to 1 year postoperatively in patients who underwent cataract surgery with the AquaLase liquefaction device (Alcon Laboratories, Fort Worth, TX). The device is a handpiece option for use with Alcon's Infiniti Vision System that uses heated balanced saline solution micropulses to liquefy lenticular material. Twenty-seven eyes of 23 patients underwent cataract extraction with the use of the AquaLase liquefaction device. The average age of participants was 68 years, and the average nuclear sclerotic grade was 1.96 on a 4-point scale. Outcomes were judged by metrics such as visual acuity, inflammation, endothelial cell count, and postoperative posterior capsule opacification. At 30 days postoperatively, 78% of eyes had a best-corrected visual acuity of 20/20. Visual acuity was 20/25 or better 1 year postoperatively in 88% of patients without complications except conversion to ultrasound phacoemulsification for two dense cataracts.

Evaluation of alternate outreach models for cataract services in rural Nepal

Directory of Open Access Journals (Sweden)

Gautam Maria

2010-03-01

Full Text Available Abstract Background Bharatpur Eye Hospital in Chitwan District, a primarily agrarian setting in south-central Nepal, reduced the number of diagnostic screening and treatment (DST camps by one half (151 to 75 in an attempt to increase both the efficiency of its outreach program and the number of people that go directly to the hospital for service. The Hospital evaluated the two program models in terms of program costs, cataract surgical utilization, hospital direct payment and patient equity. Methods The study is a prospective, before and after, study of the impact of an alternate outreach model on cataract service utilization patterns and cost per outreach camp and cost per cataract surgery at Bharatpur Eye Hospital, comparing the service years July 2006 to June 2007, with July 2007 to June 2008. Study findings were based on routinely gathered hospital and outreach administrative data. Results The total cost of the DST camps decreased by approximately US$2000. The cost per camp increased from US$52 to $78 and the cost per cataract surgery decreased from US$ 3.80 to $3.20. The number of patients who went directly to the hospital, and paid for cataract surgery, increased from 432 (17% to 623 (25%. The total number of cataract surgical procedures at Bharatpur Eye Hospital remained very similar between the two service years (2501 and 2449, respectively. The presenting visual acuity and sex of the two cataract surgical populations were very similar (favouring women, 53 and 55% in the two years, respectively. A shift toward younger men and women occurred with a 245 (64% increase in people age 50-59 years, and shift away from people age 70 years and older with a 236 (22% reduction. The age and sex distribution of the direct paying patients were very similar in the two years. Conclusion The new, more concentrated, more rural DST model of service delivery reduced overall outreach program costs, cost per cataract surgery transported, while increasing

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

Science.gov (United States)

Bichet, Daniel G; Bockenhauer, Detlef

2016-03-01

Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.

Use of intraocular lenses in children with traumatic cataract in south India

OpenAIRE

Eckstein, M.; Vijayalakshmi, P; Killedar, M.; Gilbert, C.; Foster, A.

1998-01-01

AIMS—To assess the long term results of intraocular lens (IOL) implantation for traumatic cataract in young children in a developing country.
METHODS—Prospective hospital based study of 52 children (age 2-10 years) undergoing unilateral cataract extraction and IOL insertion for traumatic cataract performed by a single surgeon in south India. Children were reviewed regularly and followed up initially for 3 years.
RESULTS—There were no serious operative complications. Clinically significant pos...

HYDRORECESSION: A toolbox for streamflow recession analysis

Science.gov (United States)

Arciniega, S.

2015-12-01

Streamflow recession curves are hydrological signatures allowing to study the relationship between groundwater storage and baseflow and/or low flows at the catchment scale. Recent studies have showed that streamflow recession analysis can be quite sensitive to the combination of different models, extraction techniques and parameter estimation methods. In order to better characterize streamflow recession curves, new methodologies combining multiple approaches have been recommended. The HYDRORECESSION toolbox, presented here, is a Matlab graphical user interface developed to analyse streamflow recession time series with the support of different tools allowing to parameterize linear and nonlinear storage-outflow relationships through four of the most useful recession models (Maillet, Boussinesq, Coutagne and Wittenberg). The toolbox includes four parameter-fitting techniques (linear regression, lower envelope, data binning and mean squared error) and three different methods to extract hydrograph recessions segments (Vogel, Brutsaert and Aksoy). In addition, the toolbox has a module that separates the baseflow component from the observed hydrograph using the inverse reservoir algorithm. Potential applications provided by HYDRORECESSION include model parameter analysis, hydrological regionalization and classification, baseflow index estimates, catchment-scale recharge and low-flows modelling, among others. HYDRORECESSION is freely available for non-commercial and academic purposes.

Performance Analysis of High-Speed Deep/Shallow Recessed Hybrid Bearing

Directory of Open Access Journals (Sweden)

Lei Wang

2013-01-01

Full Text Available The present paper proposes a theoretical analysis of the performance of deep/shallow recessed hybrid bearing. It is intended that, on the basis of the numerical results drawn from this study, appropriate shallow recess depth and width can be determined for use in the bearing design process. By adopting bulk flow theory, the turbulent Reynolds equation and energy equation are modified and solved numerically including concentrated inertia effects at the recess edge with different depth and width of shallow recess. The results indicate that the load capacity, drag torque increases as the depth of shallow recess is shallower and the width ratio (half angle of deep recess versus half angle of shallow recess is smaller. In contrast, the flow rate decreases as the depth of shallow recess is shallower and the width ratio is smaller. Nevertheless, the appropriate design of the depth and width of shallow recess might well induce the performance of high-speed deep/shallow recessed hybrid bearing.

The New Zealand cataract and refractive surgery survey 1997/1998.

Science.gov (United States)

Elder, M; Tarr, K; Leaming, D

2000-04-01

This study documents the current practice for cataract and refractive surgery in New Zealand. A postal questionnaire was distributed in late 1997 to all consultant members of the Ophthalmological Society of New Zealand that were resident in the country at that time. Most questions were identical to the 1997 survey of the American Society of Cataract and Refraction Surgeons (ASCRS) to enable a comparison. There were 98 returns from 101 surveys distributed. Of the returns, 72 performed cataract surgery, 23 performed PRK and 11 performed LASIK. ASCRS members did more refractive surgery than did New Zealanders: 28 versus 1% of 1-5 RK per month, 7 versus 1% of 1-2 clear lens extractions per month and 85 versus 51% had access to an excimer laser. For cataract surgery, ASCRS members used more topical anaesthesia (30 vs 5.5%), used no sutures more often (73 vs 51%), used more preoperative antibiotics (76 vs 26%) and used fewer injections of antibiotic/steroids (38 vs 61%). Otherwise the two groups were broadly similar.

[Sir Harold Ridley--the creator of modern cataract surgery].

Science.gov (United States)

Obuchowska, Iwona; Mariak, Zofia

2005-01-01

In February 2000, the worldwide ophthalmology community celebrated the 50th anniversary of one of the twentieth century's most important innovations in eye care--the implantation of the first intraocular lens after cataract extraction by Sir Harold Ridley. It was the initiation of a golden age for the development of ophthalmology, especially cataract surgery. In our paper we would like to remember this outstanding English ophthalmologist and his great invention.

Prognostic Indicators of Gingival Recession in Nigeria: Preliminary Findings

Directory of Open Access Journals (Sweden)

Michael Adedigba

2010-06-01

Full Text Available AIM: Literature is replete with studies on gingival recession, the apical shift of the gingival margin from the cemento-enamel junction. Chronic periodontitis and frequent toothbrushing are among its aetiological factors. Many of these were however prevalence studies. The current study was therefore aimed at separating prognostic indicators from determinants of the number of recessions. METHOD: 650 consecutive adult patients visiting a Nigerian teaching hospital were examined using a checklist including plaque, calculus, Miller’s class of recession and other parameters.. A total of 408 recession sites were identified. RESULTS: The mean age of the patients with recession was 42.3 years; mean number of recession was 4.74 Incisors had the highest number of recessions (35.7%. While a factor such as age was related both to the number and prognosis of recession sites, abrasion and plaque were only related to prognosis. Again, some of the factors previously significantly related to prognosis on univariate analysis like calculus and smoking, lost their significance on regression analysis. CONCLUSION: The three strongest predictors of prognosis (Miller’s class of recession were age, plaque and abrasion. [TAF Prev Med Bull 2010; 9(3.000: 187-194

Post-cataract prevention of inflammation and macular edema by steroid and nonsteroidal anti-inflammatory eye drops

DEFF Research Database (Denmark)

Kessel, Line; Tendal, Britta; Jørgensen, Karsten Juhl

2014-01-01

PURPOSE: Favorable outcome after cataract surgery depends on proper control of the inflammatory response induced by cataract surgery. Pseudophakic cystoid macular edema is an important cause of visual decline after uncomplicated cataract surgery. DESIGN: We compared the efficacy of topical steroids...... with topical nonsteroidal anti-inflammatory drugs (NSAIDs) in controlling inflammation and preventing pseudophakic cystoid macular edema (PCME) after uncomplicated cataract surgery. PARTICIPANTS: Patients undergoing uncomplicated surgery for age-related cataract. METHODS: We performed a systematic literature...... for age-related cataract. MAIN OUTCOME MEASURES: Postoperative inflammation and pseudophakic cystoid macular edema. RESULTS: Fifteen randomized trials were identified. Postoperative inflammation was less in patients randomized to NSAIDs. The prevalence of PCME was significantly higher in the steroid group...

Pros and cons of immediately sequential bilateral cataract surgery (ISBCS).

Science.gov (United States)

Grzybowski, Andrzej; Wasinska-Borowiec, Weronika; Claoué, Charles

2016-01-01

Immediately sequential bilateral cataract surgery (ISBCS) is currently a "hot topic" in ophthalmology. There are well-documented advantages in terms of quicker visual rehabilitation and reduced costs. The risk of bilateral simultaneous endophthalmitis and bilateral blindness is now recognized to be minuscule with the advent of intracameral antibiotics and modern management of endophthalmitis. Refractive surprises are rare for normal eyes and with the use of optical biometry. Where a general anesthetic is indicated for cataract surgery, the risk of death from a second anesthetic is much higher than the risk of blindness. A widely recognized protocol from the International Society of Bilateral Cataract Surgeons needs to be adhered to if surgeons wish to start practicing ISBCS.

Evaluation of povidone-iodine applications in cataract surgery

Directory of Open Access Journals (Sweden)

Xi Zhang

2013-09-01

Full Text Available As a routine measure to prevent intraocular inflammation, rinsing conjunctival sac with povidone-iodine(PVP-Ihas been increasingly adopted in cataract surgery. It can effectively reduce the complications of cataract surgery, including endophthalmitis and corneal complications. However, PVP-I itself has certain side effects. Therefore, to achieve the best bactericidal effect and to avoid eye injury, it is necessary to find out the optimal treatment duration and concentration. This article offers a review on the latest researches worldwide in this field.

Cataract Surgery Outcomes in Uveitis: The Multicenter Uveitis Steroid Treatment Trial.

Science.gov (United States)

Sen, H Nida; Abreu, Francis M; Louis, Thomas A; Sugar, Elizabeth A; Altaweel, Michael M; Elner, Susan G; Holbrook, Janet T; Jabs, Douglas A; Kim, Rosa Y; Kempen, John H

2016-01-01

To assess the visual outcomes of cataract surgery in eyes that received fluocinolone acetonide implant or systemic therapy with oral corticosteroids and immunosuppression during the Multicenter Uveitis Steroid Treatment (MUST) Trial. Nested prospective cohort study of patients enrolled in a randomized clinical trial. Patients that underwent cataract surgery during the first 2 years of follow-up in the MUST Trial. Visual outcomes of cataract surgery were evaluated 3, 6, and 9 months after surgery using logarithmic visual acuity charts. Change in visual acuity over time was assessed using a mixed-effects model. Best-corrected visual acuity. After excluding eyes that underwent cataract surgery simultaneously with implant surgery, among the 479 eyes in the MUST Trial, 117 eyes (28 eyes in the systemic, 89 in the implant group) in 82 patients underwent cataract surgery during the first 2 years of follow-up. Overall, visual acuity increased by 23 letters from the preoperative visit to the 3-month visit (95% confidence interval [CI], 17-29 letters; P uveitis onset, and hypotony were associated with worse preoperative visual acuity (P 0.05, test of interaction). After adjusting for other risk factors, there was no significant difference in the improvement in visual acuity between the 2 treatment groups (implant vs. systemic therapy, 2 letters; 95% CI, -10 to 15 letters; P = 0.70). Cataract surgery resulted in substantial, sustained, and similar visual acuity improvement in the eyes of patients with uveitis treated with the fluocinolone acetonide implant or standard systemic therapy. Published by Elsevier Inc.

Visual impairment secondary to congenital glaucoma in children: visual responses, optical correction and use of low vision AIDS

Directory of Open Access Journals (Sweden)

Maria Aparecida Onuki Haddad

2009-01-01

Full Text Available INTRODUCTION: Congenital glaucoma is frequently associated with visual impairment due to optic nerve damage, corneal opacities, cataracts and amblyopia. Poor vision in childhood is related to global developmental problems, and referral to vision habilitation/rehabilitation services should be without delay to promote efficient management of the impaired vision. OBJECTIVE: To analyze data concerning visual response, the use of optical correction and prescribed low vision aids in a population of children with congenital glaucoma. METHOD: The authors analyzed data from 100 children with congenital glaucoma to assess best corrected visual acuity, prescribed optical correction and low vision aids. RESULTS: Fifty-five percent of the sample were male, 43% female. The mean age was 6.3 years. Two percent presented normal visual acuity levels, 29% mild visual impairment, 28% moderate visual impairment, 15% severe visual impairment, 11% profound visual impairment, and 15% near blindness. Sixty-eight percent received optical correction for refractive errors. Optical low vision aids were adopted for distance vision in 34% of the patients and for near vision in 6%. A manual monocular telescopic system with 2.8 × magnification was the most frequently prescribed low vision aid for distance, and for near vision a +38 diopter illuminated stand magnifier was most frequently prescribed. DISCUSSION AND CONCLUSION: Careful low vision assessment and the appropriate prescription of optical corrections and low vision aids are mandatory in children with congenital glaucoma, since this will assist their global development, improving efficiency in daily life activities and promoting social and educational inclusion.

The Great Recession and America's Geography of Unemployment.

Science.gov (United States)

Thiede, Brian C; Monnat, Shannon M

The Great Recession of 2007-2009 was the most severe and lengthy economic crisis in the U.S. since the Great Depression. The impacts on the population were multi-dimensional, but operated largely through local labor markets. To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. The local consequences of macroeconomic trends are associated with county population characteristics, as well as the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state inequality between local labor market conditions. To present new estimates of the recession's impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately large recession-related increases in unemployment.

Outcome of cataract surgery in rural areas of Kaduna State, Nigeria

African Journals Online (AJOL)

Ethic Research Committee (ERC) and was conducted following research principles as contained in the Declaration of Helsinki. Consent for cataract surgery with intraocular lens implant was obtained from all the patients or their relatives. Standard extracapsular cataract extraction (ECCE) and posterior chamber intraocular ...

Cataract surgery and age-related macular degeneration. An evidence-based update

DEFF Research Database (Denmark)

Kessel, Line; Erngaard, Ditte; Flesner, Per

2015-01-01

PURPOSE: Age-related macular degeneration (AMD) and cataract often coexist in patients and concerns that cataract surgery is associated with an increased risk of incidence or progression of existing AMD has been raised. This systematic review and meta-analysis is focused on presenting the evidence...

Monitoring and Morphologic Classification of Pediatric Cataract Using Slit-Lamp-Adapted Photography.

Science.gov (United States)

Long, Erping; Lin, Zhuoling; Chen, Jingjing; Liu, Zhenzhen; Cao, Qianzhong; Lin, Haotian; Chen, Weirong; Liu, Yizhi

2017-11-01

To investigate the feasibility of pediatric cataract monitoring and morphologic classification using slit lamp-adapted anterior segmental photography in a large cohort that included uncooperative children. Patients registered in the Childhood Cataract Program of the Chinese Ministry of Health were prospectively selected. Eligible patients underwent slit-lamp adapted anterior segmental photography to record and monitor the morphology of their cataractous lenses. A set of assistance techniques for slit lamp-adapted photography was developed to instruct the parents of uncooperative children how to help maintain the child's head position and keep the eyes open after sleep aid administration. Briefly, slit lamp-adapted photography was completed for all 438 children, including 260 (59.4%) uncooperative children with our assistance techniques. All 746 images of 438 patients successfully confirmed the diagnoses and classifications. Considering the lesion location, pediatric cataract morphologies could be objectively classified into the seven following types: total; nuclear; polar, including two subtypes (anterior and posterior); lamellar; nuclear combined with cortical, including three subtypes (coral-like, dust-like, and blue-dot); cortical; and Y suture. The top three types of unilateral cataracts were polar (55, 42.3%), total (42, 32.3%), and nuclear (23, 17.7%); and the top three types of bilateral cataracts were nuclear (110, 35.8%), total (102, 33.2%), and lamellar (34, 11.1%). Slit lamp-adapted anterior segmental photography is applicable for monitoring and classifying the morphologies of pediatric cataracts and is even safe and feasible for uncooperative children with assistance techniques and sleep aid administration. This study proposes a novel strategy for the preoperative evaluation and evidence-based management of pediatric ophthalmology (Clinical Trials.gov, NCT02748031).

Peculiarity of A-bomb cataract complicated by incipient senile cataract-report of 2 recent cases

Energy Technology Data Exchange (ETDEWEB)

Sugimoto, S [Sugimoto Ophthalmic Clinic, Hiroshima (Japan)

1980-03-01

Two cases of typical cataract caused by atomic bomb radiation were observed. Both patients were male and had been exposed near the hypocenter (950m and 140m from the hypocenter) when they were young (12 years and 5 months, and 15 years and 3 months). Wounds at the exposure were not fatal, but their exposure doses were close to the lethal dose (570 and 609 rad). Their acute symptoms were severe. Nevertheless, their symptoms recovered by rest and good nutrition. Lenticular opacities (delayed ocular damage caused by atomic radiation) occurred in one patient 3 years and 7 months after the exposure and in the other patient 4 years after the exposure. It was 33 years and 10 month after the exposure when both patients aged 45 and 48 had senile cataract. Effects of aging on both patients exposed to large doses of radiation in young ages were suggested.

Strabismus and Nystagmus Following Cataract Surgeries in Childhood

Directory of Open Access Journals (Sweden)

Ayşe Yeşim Oral

2012-03-01

Full Text Available Pur po se: To evaluate the incidence of strabismus in pediatric cataracts and the effects of strabismus and nystagmus accompanied by cataract on postoperative visual acuity. Ma te ri als and Met hod: Seventy-four eyes of 45 patients under 15 years old who had undergone cataract operation were included in this study. The mean postoperative follow-up period was 1.57±2.25 years (ranged between 3 months and 9 years. Twenty-nine of the patients (64% had bilateral and 16 of the patients (36% had unilateral cataract. Preoperative and postoperative visual acuities, as well as the presence of nystagmus and strabismus were recorded. Re sults: Seventeen of the patients (38% had strabismus: 9 of them (53% had esotropia (ET, and 8 of them had (47% exotropia (XT. Fourteen (19% of the total number of cases had nystagmus. The mean age was 5.8±4.4 years for the total group of patients, 4.6±3.0 years for patients with strabismus and 5.1±3.7 years for patients with nystagmus. Visual acuity measurements were not possible in 26 uncooperative patients. The visual acuity was 0.3 logMAR and over in 15 (31% and 1.0 logMAR and under in 12 (25% of the remaining of 48 eyes. Of a total of 28 eyes with strabismus, we were unable to measure visual acuity in 10 patients, and the visual acuities were 0.3 logMAR and over in 7 (39% and 1.0 logMAR and under in 5 (28% of the rest of the 18 patients. The mean visual acuity was significantly lower in the 8 of 14 patients with nystagmus whose visual acuity could be measured (1.25±0.45 logMAR than in both the patients without strabismus (0.44±0.59 logMAR and the patients with strabismus (0.66±0.56 logMAR (p=0.019 and p=0.015, respectively. Dis cus si on: Although strabismus is seen more often in childhood cataracts compared to general population, the presence of strabismus has no negative effect on visual acuity after cataract surgery, while nystagmus is the main factor limiting the visual outcome. (Turk J Ophthalmol 2012; 42