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Congenital glaucoma

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https://www.readbyqxmd.com/read/28527653/ultrasound-biomicroscopy-measurement-of-schlemm-s-canal-in-pediatric-patients-with-and-without-glaucoma
#1
Anika Tandon, Caroline Watson, Ramesh Ayyala
PURPOSE: To compare the diameter of Schlemm's canal in children with and without congenital glaucoma as measured in vivo by means of ultrasound biomicroscopy. METHODS: In this prospective single-center study of pediatric subjects (<18 years of age) the diameter of Schlemm's canal in nonglaucomatous and glaucomatous eyes was compared. An 80 MHz iUltrasound probe (iScience Interventional Inc, Menlo Park, CA) placed near the limbus was used to identify and measure the canal's diameter with special attention to the anterior segment anatomy (especially in subjects with congenital glaucoma)...
May 17, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28524147/-complex-treatment-results-in-a-congenital-glaucoma-patient-case-report
#2
O L Fabrikantov, S I Nikolashin, Yu V Matrosova, V A Kozlov, A E Kopylov, E S Pirogova
Early diagnosis of congenital glaucoma allows surgery to be performed at the stage of reversible glaucomatous alterations of the optic disc and retina. In primary congenital glaucoma, the main reason for visual acuity reduction following surgical stabilization of the intraocular pressure are corneal changes. These include an increased corneal diameter, Haab's striae, areas of thickening and a greater posterior elevation. The resultant irregular astigmatism leads to amblyopia and a marked decrease in visual acuity...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28516453/dba-2j-mouse-model-for-experimental-glaucoma-pitfalls-and-problems
#3
Anita J Turner, Roshana Vander Wall, Vivek Gupta, Alex Klistorner, Stuart L Graham
PURPOSE: The DBA/2J mouse has been described as a model for congenital experimental glaucoma. It develops anterior segment anomalies with synechiae and pigment dispersion leading to raised intraocular pressure (IOP) and glaucomatous damage. However there are serious practical considerations when using this model in longitudinal studies. METHODS: We followed 118 mice from 12 - 48 weeks of age in a pharmaceutical trial. Here we report on the findings in control animals (n=37)...
May 18, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28513611/glaucoma-spectrum-and-age-related-prevalence-of-individuals-with-foxc1-and-pitx2-variants
#4
Emmanuelle Souzeau, Owen M Siggs, Tiger Zhou, Anna Galanopoulos, Trevor Hodson, Deepa Taranath, Richard A Mills, John Landers, John Pater, James E Smith, James E Elder, Julian L Rait, Paul Giles, Vivek Phakey, Sandra E Staffieri, Lisa S Kearns, Andrew Dubowsky, David A Mackey, Alex W Hewitt, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig
Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectrum have not been well defined. As phenotypic heterogeneity is common, we aimed to delineate the age-related penetrance and the full phenotypic spectrum of glaucoma in FOXC1 or PITX2 carriers recruited through a national disease registry...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28510772/prevalence-incidence-and-risk-factors-for-the-development-of-glaucoma-in-patients-with-aniridia
#5
Shantha Balekudaru, Nandhini Sankaranarayanan, Sumita Agarkar
PURPOSE: To assess the prevalence, incidence, and risk factors for the development of glaucoma in patients with aniridia. METHODS: Retrospective analysis of case records of patients diagnosed as having congenital aniridia between January 1986 and December 2011 was performed. Patients with a follow-up of more than 12 months were included. RESULTS: Ninety-one patients (180 eyes) with the diagnosis of aniridia were identified from the case records...
May 15, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28473699/ocular-pathology-of-oculocerebrorenal-syndrome-of-lowe-novel-mutations-and-genotype-phenotype-analysis
#6
Emilie Song, Na Luo, Jorge A Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. OCRL1 encodes an inositol polyphosphate 5-phosphatase which preferentially dephosphorylates phosphatidylinositide 4,5 bisphosphate (PI(4,5)P2). We have identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutations are detected at c.739-742delAAAG in Lowe patient 1 and c...
May 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28448622/goniodysgenesis-variability-and-activity-of-cyp1b1-genotypes-in-primary-congenital-glaucoma
#7
María T García-Antón, Juan J Salazar, Rosa de Hoz, Blanca Rojas, Ana I Ramírez, Alberto Triviño, José-Daniel Aroca-Aguilar, Julián García-Feijoo, Julio Escribano, José M Ramírez
Mutations in the CYP1B1 gene are currently the main known genetic cause of primary congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in human PCG. Surgical pieces from trabeculectomy from patients with PCG (n = 5) and sclerocorneal rims (n = 3) from cadaver donors were processed for transmission electron microscopy. Patients were classified into three groups depending on goniodysgenesis severity, which was influenced by CYP1B1 enzymatic activity...
2017: PloS One
https://www.readbyqxmd.com/read/28448293/trabeculectomy-or-transscleral-cyclophotocoagulation-as-initial-treatment-of-secondary-childhood-glaucoma-in-northern-tanzania
#8
Achim Fieß, Peter Shah, Freda Sii, Furahini Godfrey, Joe Abbott, Richard Bowman, Jacqueline Bauer, Stefan Dithmar, Heiko Philippin
PURPOSE: The purpose is to describe the outcome of trabeculectomy with transscleral cyclophotocoagulation (TSCPC) as an initial intervention for secondary childhood glaucoma in Northern Tanzania. METHODS: A retrospective, consecutive case series was analyzed of all children with secondary childhood glaucoma who underwent initial trabeculectomy or TSCPC between 2000 and 2013 at a referral eye unit in Northern Tanzania. Retrospective data were collected on causes of glaucoma, intraocular pressure (IOP), visual acuity, complications, and subsequent interventions...
April 26, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28442696/surgical-management-of-pediatric-glaucoma
#9
Ingrid Chang, Joseph Caprioli, Yvonne Ou
Pediatric glaucoma surgery is challenging because of the differences in anatomy from the adult, differences in the behavior of the tissues of a child's glaucomatous eye, the variety in causes of the disease, and difficulties with postoperative management. Goniotomy and trabeculotomy are the preferred initial treatments for primary congenital glaucoma. Trabeculectomy with adjunctive mitomycin C is more likely to succeed in older, phakic patients, but carries the long-term risk of bleb-associated endophthalmitis...
2017: Developments in Ophthalmology
https://www.readbyqxmd.com/read/28430330/long-term-visual-outcomes-in-children-with-primary-congenital-glaucoma
#10
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
#11
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
#12
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...
May 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28412799/-long-term-outcomes-after-cataract-surgery-in-infants-with-congenital-cataract
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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 25, 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
#19
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
#20
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
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