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Congenital glaucoma

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https://www.readbyqxmd.com/read/28644236/cyp1b1-cytopathy-uncommon-phenotype-of-a-homozygous-cyp1b1-deletion-as-internal-corneal-ulcer-of-von-hippel
#1
Valeria Oliva-Biénzobas, Alejandro Navas, Mirena C Astiazarán, Oscar Francisco Chacón-Camacho, Jose A Bermúdez-Magner, Mariana Takane, Enrique Graue-Hernández, Juan Carlos Zenteno
PURPOSE: To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma. METHODS: The newborn presented with diffuse corneal edema and bilaterally elevated intraocular pressure (IOP). Ophthalmological examination, ultrasound, and ultrasound biomicroscopy were performed; congenital infections were ruled out. Genetic analysis was performed. The patient underwent penetrating keratoplasty and goniotomy in a single surgical time...
June 21, 2017: Cornea
https://www.readbyqxmd.com/read/28636141/binocular-facilitation-of-cone-specific-visual-evoked-potentials-in-colour-deficiency
#2
Jeff Rabin, Andrew Kryder, Dan Lam
BACKGROUND: Neural compensatory mechanisms have been proposed, which preserve the binocular visual field in glaucoma, as well as cognition in Alzheimer's disease and motor function in Parkinson's disease. It is conceivable that comparable mechanisms operate to preserve function in congenital and/or dystrophic disease. In hereditary colour vision deficiency (CVD), we observed significant facilitation in the amplitude of the binocular cone-specific visual evoked potential (VEP) compared to the monocular amplitude for the cone type corresponding to the CVD...
June 21, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28626825/phace-s-syndrome-report-of-a-case-with-new-ocular-and-systemic-manifestations
#3
Raheleh Assari, Vahid Ziaee, Sasan Moghimi, Mohammad Reza Akbari, Arash Mirmohammadsadeghi
PURPOSE: To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. METHODS: A 6-month-old girl was referred with large hemangiomas on the left side of the face. RESULTS: In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28624326/randomized-trial-on-illuminated-microcatheter-circumferential-trabeculotomy-versus-conventional-trabeculotomy-in-congenital-glaucoma
#4
Jyoti Shakrawal, Shveta Bali, Talvir Sidhu, Saurabh Verma, Ramanjit Sihota, Tanuj Dada
PURPOSE: To compare one year outcomes of illuminated microcatheter-assisted circumferential trabeculotomy(IMCT) vs conventional partial trabeculotomy(CPT) for Primary Congenital Glaucom (PCG). DESIGN: Randomized clinical trial METHODS: Forty eyes of 31 patients with unilateral or bilateral primary congenital glaucoma aged less than two years were randomized to undergo IMCT (20 eyes) or CPT (20 eyes). Primary outcome measure was IOP reduction. The success criterion was defined as intraocular pressure (IOP) ≤ 12 mm Hg without and with anti-glaucoma medications (absolute success and qualified success respectively)...
June 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28620713/angiopoietin-receptor-tek-interacts-with-cyp1b1-in-primary-congenital-glaucoma
#5
Meha Kabra, Wei Zhang, Sonika Rathi, Anil K Mandal, Sirisha Senthil, Goutham Pyatla, Muralidhar Ramappa, Seema Banerjee, Konegari Shekhar, Srinivas Marmamula, Asha L Mettla, Inderjeet Kaur, Rohit C Khanna, Hemant Khanna, Subhabrata Chakrabarti
Primary congenital glaucoma (PCG) is a severe autosomal recessive ocular disorder associated with considerable clinical and genetic heterogeneity. Recently, rare heterozygous alleles in the angiopoietin receptor-encoding gene TEK were implicated in PCG. We undertook this study to ascertain the second mutant allele in a large cohort (n = 337) of autosomal recessive PCG cases that carried heterozygous TEK mutations. Our investigations revealed 12 rare heterozygous missense mutations in TEK by targeted sequencing...
June 15, 2017: Human Genetics
https://www.readbyqxmd.com/read/28617521/regular-versus-releasable-sutures-in-surgery-for-primary-congenital-glaucoma
#6
Nader H Bayoumi
PURPOSE: To compare releasable and regular sutures in combined angle and filtering surgery for primary congenital glaucoma. METHODS: A prospective study was conducted on 39 eyes (26 right eyes) of 39 children (20 boys; 19 girls) who had primary congenital glaucoma treated with combined trabeculotomy-trabeculectomy with mitomycin C and scleral flap closure with regular or releasable sutures. Follow-up was 24 months. Success rates (defined as an intraocular pressure [IOP] < 16 mm Hg without hypotony-related complications and/or lack of IOP-related progression of the disease) were studied and complications were noted...
June 15, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28613427/clinical-anatomy-of-the-anterior-chamber-angle-in-congenital-aniridia-and-consequences-for-trabeculotomy-cyclophotocoagulation
#7
Arne Viestenz, Berthold Seitz, Eva Deland, Miltiadis Fiorentzis, Lorenz Latta, Anja Viestenz, Barbara Käsmann-Kellner
INTRODUCTION: Intraocular pressure (IOP) lowering surgery in congenital aniridia glaucoma (CAG) can be complicated by dysgenesis of the limbal region, anterior chamber angle, iris and lens. METHODS: The anterior segments of 23 eyes (17 patients) with congenital aniridia were investigated under general anesthesia using ultrasound biomicroscopy (UBM). The structures of the anterior segment were examined: distance of ciliary body processes from the anterior chamber angle and positioning of Schlemm's canal...
June 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28599093/clinical-and-molecular-cytogenetic-characterization-of-four-unrelated-patients-carrying-2p14-microdeletions
#8
Marie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, Alexandra Afenjar, Cyril Mignot, Joris Andrieux, Marion Gerard, Jaume Catala-Mora, Pierre Simon Jouk, Audrey Labalme, Patrick Edery, Damien Sanlaville, Massimiliano Rossi
We report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven patients have been reported so far harboring deletions including 2p14p15 and encompassing OTX1, whose haploinsufficiency is frequently associated with genitourinary defects. To date, only one patient has been reported carrying a more proximal 2p14 microdeletion which does not include OTX1...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28574493/agreement-in-central-corneal-thickness-measurements-between-optical-and-ultrasound-pachymeters-in-patients-with-primary-congenital-glaucoma
#9
M R Razeghinejad, Z Tajbakhsh, M H Nowroozzadeh
No abstract text is available yet for this article.
June 2, 2017: Eye
https://www.readbyqxmd.com/read/28573046/a-comparative-study-the-use-of-collagen-implant-versus-mitomycin-c-in-combined-trabeculotomy-and-trabeculectomy-for-treatment-of-primary-congenital-glaucoma
#10
Alaa Abdel Sadek Singab, Osama Ali Mohammed, Mohammed Iqbal Hafez Saleem, Mortada Ahmed Abozaid
PURPOSE: To compare Ologen implant versus mitomycin-C (MMC) in combined trabeculotomy and trabeculectomy as a treatment of primary congenital glaucoma. SETTING: Sohag University Hospital, Egypt. DESIGN: A prospective comparative study. METHODS: Thirty-four eyes of twenty-one patients with primary congenital glaucoma were included in this study. All patients were subjected to preoperative evaluation including complete anterior segment examination under general anesthesia...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28549150/primary-congenital-and-developmental-glaucomas
#11
Carly Lewis, Adam Hedberg-Buenz, Adam P DeLuca, Edwin M Stone, Wallace L M Alward, John H Fingert
Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cause of childhood blindness. Other early-onset glaucomas may arise secondary to developmental abnormalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome...
May 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28527653/ultrasound-biomicroscopy-measurement-of-schlemm-s-canal-in-pediatric-patients-with-and-without-glaucoma
#12
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 18, 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
#13
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
#14
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
#15
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...
June 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
#16
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
#17
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
#18
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
#19
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
#20
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
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