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Congenital glaucoma

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https://www.readbyqxmd.com/read/28430330/long-term-visual-outcomes-in-children-with-primary-congenital-glaucoma
#1
Sanaa A Yassin
PURPOSE: To determine the long-term visual outcomes and risk factors for visual loss in children with primary congenital glaucoma (PCG) who underwent angle surgery over a 21-year period. METHODS: This was a retrospective study of patients who underwent trabeculotomy, trabeculectomy, or combined trabeculotomy-trabeculectomy for PCG. Visual acuity (VA), surgeries, and underlying cause of visual impairment were recorded and compared. Main outcome measures were final best-corrected good VA (20/20 to 20/50), moderate VA (<20/50 to 20/200), or poor VA (<20/200); age at surgery, sex, laterality, type of initial glaucoma surgery, and number of surgeries were recorded...
April 20, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#2
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28418539/ophthalmic-manifestations-of-congenital-zika-syndrome-in-colombia-and-venezuela
#3
Juan B Yepez, Felipe A Murati, Michele Pettito, Carlos F Peñaranda, Jazmin de Yepez, Gladys Maestre, J Fernando Arevalo
Importance: The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed...
April 13, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28412799/-long-term-outcomes-after-cataract-surgery-in-infants-with-congenital-cataract
#4
J Y Qi, W Xiao, M Y Wang, D X Zhao, W Pu
Objective: To observe the long-term outcomes after congenital cataract surgery performed prior to 36 months of age. Methods: A retrospective case study was conducted. Thirty-two cases (57 eyes) of congenital cataract were included from January 2004 to January 2012. All patients received intraocular lens (IOL) implantation with posterior continuous curvilinear capsulorhexies and anterior vitrectomy after cataract extraction and were followed up. At the last visit, the best corrected visual acuity (BCVA) was determined and postoperative complications were evaluated during follow-up with a longest time of 13 years...
April 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28407842/the-prevalence-of-glaucoma-in-young-people
#5
Susanne Marx-Gross, Dagmar Laubert-Reh, Astrid Schneider, René Höhn, Alireza Mirshahi, Thomas Münzel, Philipp S Wild, Manfred E Beutel, Maria Blettner, Norbert Pfeiffer
BACKGROUND: Earlier information on the prevalence of glaucoma among children in Germany was based solely on estimates. Reported values for congenital glaucoma range from 1 in 10 000 to 1 in 68 000 depending on ethnic origin. The estimate for juvenile glaucoma is 1 in 44 000. METHODS: The Gutenberg Health Study is a populationbased, prospective, monocentric cohort study with 15 010 participants aged 35 to 74. To determine the history-based prevalence of childhood glaucoma, participants were asked about the diagnosis of glaucoma, any operations for glaucoma that were performed, regular use of drugs for glaucoma, and the age of onset of glaucoma...
March 24, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28405489/three-dimensional-optical-coherence-tomography-imaging-and-treatment-of-glaucomatous-optic-nerve-head-defects-associated-with-schisis-like-maculopathy
#6
Zafer Öztaş, Jale Menteş, Halil Ateş, Serhad Nalçacı
We present the three-dimensional (3D) spectral-domain optical coherence tomography (SD-OCT) findings of schisis-like maculopathy associated with structural changes of the optic nerve (ON) head as well as the treatment outcomes of a case of advanced glaucoma. In addition to ophthalmological examination, B-scan and 3D-SD-OCT images of the ON head, peripapillary retina, and the macula were obtained. The B-scan images only detected typical retinoschisis findings. However, the 3D-SD-OCT images of the ON head revealed defects of various sizes, shapes, and depths at the outer wall of the prelaminar and laminar regions of the ON canal...
April 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28400699/ladd-syndrome-with-glaucoma-is-caused-by-a-novel-gene
#7
Allie Simpson, Armin Avdic, Ben R Roos, Adam DeLuca, Kathy Miller, Michael J Schnieders, Todd E Scheetz, Wallace L M Alward, John H Fingert
PURPOSE: Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder displaying variable expression of multiple congenital anomalies including hypoplasia or aplasia of the lacrimal and salivary systems causing abnormal tearing and dry mouth. Mutations in the FGF10, FGFR2, and FGFR3 genes were found to cause some cases of LADD syndrome in prior genetic studies. The goal of this study is to identify the genetic basis of a case of LADD syndrome with glaucoma and thin central corneal thickness (CCT)...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28397860/whole-exome-sequencing-of-congenital-glaucoma-patients-reveals-hypermorphic-variants-in-gpatch3-a-new-gene-involved-in-ocular-and-craniofacial-development
#8
Jesús-José Ferre-Fernández, José-Daniel Aroca-Aguilar, Cristina Medina-Trillo, Juan-Manuel Bonet-Fernández, Carmen-Dora Méndez-Hernández, Laura Morales-Fernández, Marta Corton, María-José Cabañero-Valera, Marta Gut, Raul Tonda, Carmen Ayuso, Miguel Coca-Prados, Julián García-Feijoo, Julio Escribano
Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients. In one patient we identified two rare, recessive and hypermorphic coding variants in GPATCH3, a gene of unidentified function, and 5% of a second group of 170 unrelated CG patients carried rare variants in this gene. The recombinant GPATCH3 protein activated in vitro the proximal promoter of CXCR4, a gene involved in embryo neural crest cell migration...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28396439/structural-basis-of-tie2-activation-and-tie2-tie1-heterodimerization
#9
Veli-Matti Leppänen, Pipsa Saharinen, Kari Alitalo
The endothelial cell (EC)-specific receptor tyrosine kinases Tie1 and Tie2 are necessary for the remodeling and maturation of blood and lymphatic vessels. Angiopoietin-1 (Ang1) growth factor is a Tie2 agonist, whereas Ang2 functions as a context-dependent agonist/antagonist. The orphan receptor Tie1 modulates Tie2 activation, which is induced by association of angiopoietins with Tie2 in cis and across EC-EC junctions in trans Except for the binding of the C-terminal angiopoietin domains to the Tie2 ligand-binding domain, the mechanisms for Tie2 activation are poorly understood...
April 10, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28386709/in-silico-analysis-of-five-missense-mutations-in-cyp1b1-gene-in-pakistani-families-affected-with-primary-congenital-glaucoma
#10
Sabika Firasat, Haiba Kaul, Usman Ali Ashfaq, Sobia Idrees
PURPOSE: The purpose of this study was to characterize the five missense mutations in CYP1B1 gene identified in Pakistani families affected with primary congenital glaucoma (PCG) using various bioinformatics and protein modeling tools. METHODS: We previously reported four novel missense mutations in CYP1B1 gene segregating in consanguineous Pakistani families. These mutations were identified by direct sequencing of all coding exons, the exon-intron boundaries and the 5' untranslated region of CYP1B1 using genomic DNA from affected and unaffected family members...
April 6, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28385300/quality-of-life-and-functional-vision-in-children-with-glaucoma
#11
Annegret Dahlmann-Noor, Vijay Tailor, Catey Bunce, Yassir Abou-Rayyah, Gillian Adams, John Brookes, Peng T Khaw, Maria Papadopoulos
PURPOSE: To evaluate the effect of glaucoma on functional vision and on vision-related (VR) and health-related (HR) quality of life (QoL) in children up to 16 years of age. DESIGN: Cross-sectional observational study. PARTICIPANTS: One hundred nineteen children 2 to 16 years of age (mean age, 9.4 years; standard deviation [SD], 4.56 years) with glaucoma and their parents. METHODS: Completion of 3 validated instruments for children to assess (1) functional visual ability (FVA) with the Cardiff Visual Ability Questionnaire for Children (CVAQC), (2) VR QoL with the Impact of Vision Impairment for Children (IVI-C), and (3) HR QoL with the Pediatric Quality of Life Inventory (PedsQL) version 4...
April 3, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28384041/candidate-gene-analysis-identifies-mutations-in-cyp1b1-and-ltbp2-in-indian-families-with-primary-congenital-glaucoma
#12
Yeming Yang, Lin Zhang, Shujin Li, Xianjun Zhu, Periasamy Sundaresan
BACKGROUND: Primary congenital glaucoma (PCG) is a severe ocular disorder that presents early in life. Cytochrome P4501B1 (CYP1B1) and latent transforming growth factor-beta-binding protein 2 (LTBP2) are the most commonly mutated genes in PCG. AIM: To investigate the causative genetic mutations in eight Indian families with PCG. MATERIALS AND METHODS: Whole-exome sequencing was applied to analyze the genomic DNA samples from PCG probands. Sanger sequencing was utilized to confirm the identified mutations...
April 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28364054/case-6-failure-to-thrive-with-congenital-glaucoma-in-a-2-month-old-girl
#13
Brittney Statler, David J Massop, John W Schmidt
No abstract text is available yet for this article.
April 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28351926/epiblepharon-in-congenital-glaucoma-case-control-study
#14
Namju Kim, Yung Ju Yoo, Ho-Kyung Choung, Sang In Khwarg
BACKGROUND/AIMS: To assess the prevalence, clinical features and risk factors of lower lid epiblepharon among patients with congenital glaucoma. METHODS: Cross-sectional, observational, case-control study. Patients diagnosed with congenital glaucoma between August 1999 and November 2014 were included. Demographic and clinical characteristic data were collected. Age-matched normal controls were recruited form general population. Main outcome measures were the prevalence, laterality and factors associated with epiblepharon in patients with congenital glaucoma...
March 28, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28345568/prognosis-of-different-glaucomas-seen-at-a-tertiary-center-a-10-year-overview
#15
Ramanjit Sihota, Neha Midha, Harathy Selvan, Talvir Sidhu, Deepa R Swamy, Ajay Sharma, Amisha Gupta, Viney Gupta, Tanuj Dada, Sunil Chaudhary
AIM: This study aims to determine treatment patterns, long-term intraocular pressure (IOP) and perimetric control in different glaucomas seen at a tertiary eye center. SETTINGS AND DESIGN: Hospital-based, cross-sectional chart review of patients routinely following up at an outpatient glaucoma service. METHODS: Patients with a follow-up of at least 10 years were evaluated. Their mean IOP, visual field (VF) status, and medications/surgery required at final assessment were noted...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28316196/-clinical-observation-on-the-treatment-of-untreatable-childhood-glaucoma-with-microcatheter-assisted-trabeculotomy
#16
H Z Wang, M Li, M Hu, Y W Wang, Y Shi, W W Wang, N L Wang
Objective: To evaluate the efficacy of microcatheter-assisted trabeculotomy for untreatable childhood glaucoma with traditional surgeries repeatedly. Methods: Clinical charts of fifteen cases (16 eyes) with childhood glaucoma patients from Beijing Tongren Hospital were retrospectively analyzed. All eyes had previously received 2 or more traditional anti-glaucoma surgeries. We performed microcatheter-assisted trabeculotomy for these patients. The intraocular pressure (IOP), numbers of anti-glaucoma medications and post-operative complications were analyzed...
March 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28302248/ocular-features-in-a-case-of-nevus-of-ota
#17
Murtaza Sameen Junejo, Muhammad Saim Khan, Ahsan Mukhtar
Oculodermal melanocytosis, also known as Nevus of Ota, is a hamartomatous melanocytic nevus of dermal melanocytes. It presents as a bluish grey patch on the face, which may be congenital or acquired involving the area of distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The nevus can be unilateral or bilateral, and, in addition to skin, it may involve ocular and oral mucosal surfaces. It is a rare disorder and the ocular complications, such as glaucoma and melanoma, may be vision or life-threatening...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28300742/newly-identified-paired-box-6-mutation-of-variant-familial-aniridia-congenital-iris-ectropion-with-foveal-hypoplasia
#18
Woo Jin Kim, Jong Ha Kim, Nam Chun Cho
Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene...
January 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28282485/contribution-of-mutations-in-known-mendelian-glaucoma-genes-to-advanced-early-onset-primary-open-angle-glaucoma
#19
Tiger Zhou, Emmanuelle Souzeau, Owen M Siggs, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Shiwani Sharma, Kathryn P Burdon, Jamie E Craig
Purpose: Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden accounted for by these known Mendelian glaucoma genes in a cohort of individuals with advanced early-onset POAG. Methods: The cases exhibited advanced POAG with young age of diagnosis. Cases and examined local controls were subjected to whole-exome sequencing...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28266150/two-year-results-of-microcatheter-assisted-trabeculotomy-in-paediatric-glaucoma-a-randomized-controlled-study
#20
Yasmine El Sayed, Ghada Gawdat
PURPOSE: To compare the outcomes of microcatheter-assisted circumferential trabeculotomy to standard rigid probe trabeculotomy in childhood glaucomas. METHODS: Eyes of children requiring trabeculotomy for primary congenital or secondary paediatric glaucoma were randomized to undergo either trabeculotomy using the Glaucolight illuminated microcatheter, or a rigid probe trabeculotomy. Complete success was defined as an intraocular pressure (IOP) of <18 mmHg without medications...
March 7, 2017: Acta Ophthalmologica
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