keyword
MENU ▼
Read by QxMD icon Read
search

Congenital glaucoma

keyword
https://www.readbyqxmd.com/read/29226564/-lowe-syndrome-a-particularly-severe-phenotype-without-clinical-kidney-involvement
#1
Abdalla Etesam, El-Beheiry Ahmed, Dieterich Klaus, Thevenon Julien, Fauré Julien, Rendu John
Lowe syndrome (LS) is a very rare disorder of phosphatidylinositol metabolism, which manifests with a complex phenotype comprising a clinical triad encompassing major abnormalities of the eyes, the kidneys, and the central nervous system. We are reporting a 23-year-old Egyptian male with a severe phenotype of LS with a minimal kidney disease. Direct sequencing of the OCRL gene detected a p.His375Arg mutation in the catalytic domain of the protein. The patient suffered from bilateral congenital cataracts and glaucoma, striking growth deficiency, severe psychomotor disability, a severe osteopathy, and seizures, but only minimal renal dysfunction...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29217026/ciliary-body-location-in-eyes-with-and-without-primary-congenital-glaucoma
#2
Ghadah Al Nosair, Rajiv Khandekar, Mohammed Al-Shamrani, Deepak P Edward
OBJECTIVE: To compare the location of ciliary body (CB) in children with and without primary congenital glaucoma (PCG). METHODS: In this cross-sectional study, we enrolled Saudi children who were less than 5 years old. CB distance (CBD) was measured and compared in eyes with PCG (PCG group) and without PCG (control group). CBD was measured with a caliper and defined as the distance between the edge of the corneoscleral limbus and the anterior edge of CB as delineated by transillumination...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29201477/a-case-of-advanced-glaucoma-with-increased-episcleral-venous-pressure-in-a-17-year-old-with-eisenmenger-syndrome
#3
Leanne Grech, Adrian Mifsud, Maryanne Caruana, Francis Carbonaro
Eisenmenger syndrome refers to reversal of shunt and central cyanosis due to pulmonary hypertension induced by congenital heart disease with a large systemic-to-pulmonary shunt. We report a case of a 17-year-old man with Eisenmenger syndrome who presented with gradual deterioration in visual acuity and was diagnosed with advanced secondary open angle glaucoma. There have been reports of patients suffering from thrombosis due to hyperviscosity associated with this syndrome; however, to our knowledge, the association of secondary open angle glaucoma with Eisenmenger syndrome has not yet been documented...
2017: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/29189946/treatment-results-in-aphakic-patients-with-glaucoma-following-congenital-cataract-surgery
#4
Mine Baris, Elif Demirkilinc Biler, Suzan Guven Yilmaz, Halil Ates, Onder Uretmen, Suheyla Kose
PURPOSE: To evaluate the clinical findings and possible risk factors of patients with aphakic glaucoma following congenital cataract surgery and identify the factors affecting response to glaucoma treatment. METHODS: A retrospective chart review of 173 patients was performed who underwent congenital cataract surgery before the age of 12 months and 40 eyes of 25 patients with aphakic glaucoma were enrolled. Age of the patients at the time of the cataract surgery, postoperative complications, additional ocular pathologies and the type of glaucoma treatment needed were investigated...
November 30, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29183046/in-vivo-analysis-of-angle-dysgenesis-in-primary-congenital-juvenile-and-adult-onset-open-angle-glaucoma
#5
Viney Gupta, Abadh K Chaurasia, Shikha Gupta, Bhavya Gorimanipalli, Ajay Sharma, Amisha Gupta
Purpose: The purpose of this study was to comparatively evaluate angle dysgenesis in vivo, among congenital, juvenile, and adult-onset open angle glaucoma patients. Methods: A cross-sectional evaluation of 96 glaucoma patients, 22 children with primary congenital glaucoma (PCG) old enough to cooperate for optical coherence tomography (OCT), 34 juvenile-onset open angle glaucoma (JOAG) patients, 40 adult-onset primary open angle glaucoma (POAG), and 30 healthy subjects, was carried out using high-resolution anterior segment spectral domain (SD)-OCT...
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29166895/retrospective-data-on-causes-of-childhood-vision-impairment-in-eritrea
#6
Rajendra Gyawali, Bharat Kumar Bhayal, Rabindra Adhikary, Arjun Shrestha, Rabindra Prasad Sah
BACKGROUND: Proper information on causes of childhood vision loss is essential in developing appropriate strategies and programs to address such causes. This study aimed at identifying the causes of vision loss in children attending the national referral eye hospital with the only pediatric ophthalmology service in Eritrea. METHODS: A retrospective data review was conducted for all the children (< 16 years of age) who attended Berhan Aiyni National Referral Eye Hospital in five years period from January 2011 to December 2015...
November 22, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29155694/paracentral-acute-middle-maculopathy-in-primary-congenital-glaucoma
#7
Yavuz K Aribas, Zeynep Aktas, Kemal Bayrakceken, Tuba Atalay, Sengul Ozdek
PURPOSE: To report a case of primary congenital glaucoma associated with paracentral acute middle maculopathy. METHODS: A case report. RESULTS: A 14-year-old girl with undiagnosed primary congenital glaucoma was referred for the evaluation of sudden vision loss a week after the initial symptoms. Visual acuity was counting fingers at 2 m in the right eye. Examination of her right eye revealed corneal stromal scar like Haab striae, splinter hemorrhage at the temporal border of the optic disk, perivenular hemorrhage, and fern-like white area at the macula...
November 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29152434/characterization-of-eyeball-loss-in-four-cities-of-colombia
#8
F Hernán Moreno-Caviedes, Nórida Velez Cuellar, Margarita Caicedo Zapata, Gabriel Triana Reina, Azucena Sánchez
PURPOSE: Describe the socio-demographic characteristics of anophthalmic patients examined at specialized centers of four cities in Colombia to know the different causes of eyeball loss. METHOD: A transversal retrospective study was done of 511 medical records from the specialized practices of four cities in Colombia. Socio-demographic data of patients who were seen between January 2011 and December 2013 were compiled. SOFA Statistics software v1.4.6 was used for this analysis...
September 11, 2017: Curēus
https://www.readbyqxmd.com/read/29151681/incidence-and-risk-factors-of-early-onset-glaucoma-following-pediatric-cataract-surgery-in-egyptian-children-one-year-study
#9
Ghada I Gawdat, Maha M Youssef, Nermeen M Bahgat, Dina M Elfayoumi, Mohamed As Eddin
Aim: To study the incidence and risk factors of glaucoma occurring within 1 year following pediatric cataract surgery in Egyptian children. Materials and methods: This is a prospective nonrandomized study conducted at Aburich Children's Hospital, over a period of 1 year on a cohort of Egyptian patients with congenital and infantile cataract. One hundred and fifty eyes of 88 patients were enrolled in this study. All the patients underwent anterior approach removal of lens matter, whereas primary intraocular lens (IOL) implantation was carried at the age of 1 and 2 years for unilateral and bilateral cases respectively...
September 2017: Journal of Current Glaucoma Practice
https://www.readbyqxmd.com/read/29142762/analysis-of-cyp1b1-gene-mutations-in-patients-with-primary-congenital-glaucoma
#10
REVIEW
Leila Chouiter, Sellama Nadifi
Primary congenital glaucoma (PCG) is the most common type of infantile glaucoma, yet it remains a relatively rare disease, because the disease is often transmitted in an autosomal recessive pattern. However, PCG occurs up to 10 times more frequently in certain ethnic and geographical groups where consanguineous relationships are common. The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene ( CYP1B1 ) in patients with PCG among different populations around the world from 2011 until May 2016...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29141391/-research-updates-on-glaucoma-after-congenital-cataract-surgery
#11
M R Yu, Y Luo
Postoperative glaucoma is one of the most common complications after congenital cataract surgery and an important cause of unsatisfactory long-term visual acuity rehabilitation. Recently, the diagnostic criteria of glaucoma after congenital cataract surgery have been gradually complemented; the measurement of intraocular pressure is improved and the follow-up is standardized. The risk factors of glaucoma after congenital cataract surgery include age at surgery, ocular abnormalities and central corneal thickness, some of which still remain controversial...
November 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29141386/-clinical-characteristics-and-surgical-effect-observation-of-congenital-aniridia-combined-with-cataract
#12
X H Wu, Q Z Cao, Y X Hu, J N Lin, H T Lin, W R Chen, Y Z Liu
Objective: To analyze the clinical manifestations, surgical approaches and postoperative prognosis for the cases of congenital aniridia combined with cataract. Methods: In this retrospective case series, 26 patients diagnosed with congenital aniridia combined with cataract were collected from Zhongshan Ophthalmic Center from February 2002 to August 2016. The Clinical data were collected to analyze the clinical features, surgical approaches and postoperative prognosis. T-test was used for statistical analysis...
November 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29106382/angiopoietin-1-is-required-for-schlemm-s-canal-development-in-mice-and-humans
#13
Benjamin R Thomson, Tomokazu Souma, Stuart W Tompson, Tuncer Onay, Krishnakumar Kizhatil, Owen M Siggs, Liang Feng, Kristina N Whisenhunt, Tammy L Yanovitch, Luba Kalaydjieva, Dimitar N Azmanov, Simone Finzi, Christine E Tanna, Alex W Hewitt, David A Mackey, Yasmin S Bradfield, Emmanuelle Souzeau, Shari Javadiyan, Janey L Wiggs, Francesca Pasutto, Xiaorong Liu, Simon Wm John, Jamie E Craig, Jing Jin, Terri L Young, Susan E Quaggin
Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structures, Schlemm's canal (SC) and the trabecular meshwork. We previously identified loss-of-function mutations in the angiopoietin (ANGPT) receptor TEK in families with PCG and showed that ANGPT/TEK signaling is essential for SC development. Here, we describe roles for the major ANGPT ligands in the development of the aqueous outflow pathway. We determined that ANGPT1 is essential for SC development, and that Angpt1-knockout mice form a severely hypomorphic canal with elevated intraocular pressure...
November 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29101006/corneal-abnormalities-in-congenital-aniridia-congenital-central-corneal-opacity-versus-aniridia-associated-keratopathy
#14
Hyo Kyung Lee, Mee Kum Kim, Joo Youn Oh
PURPOSE: To clinically characterize and compare 2 types of corneal abnormalities in patients with congenital aniridia: (1) congenital central corneal opacity from birth (CCO) and (2) aniridia-associated keratopathy (AAK) that develops progressively with age. DESIGN: Retrospective cohort study. METHODS: Medical records of Korean patients who were diagnosed with congenital aniridia at Seoul National University Hospital between 1991 and 2016 were reviewed...
October 31, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29100920/4q25-microdeletion-encompassing-pitx2-a-patient-presenting-with-tetralogy-of-fallot-and-dental-anomalies-without-ocular-features
#15
P Vande Perre, C Zazo Seco, O Patat, L Bouneau, A Vigouroux, D Bourgeois, S El Hout, N Chassaing, P Calvas
Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations of FOXC1 and PITX2 are responsible for about 40% of the ARS cases. We describe the phenotype of a patient carrying a deletion encompassing the 4q25 locus containing PITX2 gene. This child presented with a congenital heart defect (Tetralogy of Fallot, TOF) and no signs of ARA...
October 31, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29062779/understanding-practice-patterns-of-glaucoma-sub-specialists-in-india
#16
Nikhil S Choudhari, Vanita Pathak-Ray, Sushmita Kaushik, Prateep Vyas, Ronnie George
AIM: To obtain information on the prevailing practice patterns of glaucoma specialists in India. METHODS: Glaucoma specialists attending the Annual Conference of the Glaucoma Society of India (GSI) were surveyed. This survey, conducted in 2013, was based on an interactive audience response system. RESULTS: The information was obtained from 146 glaucoma specialists. Approximately half (n=83; 57%) had ≥10y of experience in managing glaucoma and were in institutional practice (n=74, 51%)...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/29054513/maternal-and-fetal-outcomes-associated-with-vagus-nerve-stimulation-during-pregnancy
#17
Anne Sabers, Dina Battino, Erminio Bonizzoni, John Craig, Dick Lindhout, Emilio Perucca, Sanjeev V Thomas, Torbjörn Tomson, Frank Vajda
OBJECTIVE: To access the effect of vagus nerve stimulation (VNS) on the outcome of pregnancy. METHODS: We used the International Registry of Antiepileptic Drugs and Pregnancy (EURAP) and its network to search for women receiving adjunctive VNS during pregnancy. Data on maternal and fetal outcomes were extracted from the registry databases and outcomes were evaluated. RESULTS: Twenty-six pregnancies were identified in 25 women. All women were exposed to a relative high VNS stimulation level (mean duty cycle 18%, range 5%-51%)...
November 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29054387/the-post-natal-development-of-intraocular-pressure-in-normal-domestic-cats-felis-catus-and-in-feline-congenital-glaucoma
#18
Sara Adelman, Daniel Shinsako, Julie A Kiland, Vincent Yaccarino, N Matthew Ellinwood, Gil Ben-Shlomo, Gillian J McLellan
Intraocular pressure (IOP) is the most consistent risk factor for progressive vision loss in glaucoma. Cats with recessively inherited feline congenital glaucoma (FCG) exhibit elevated IOP with gradual, painless progression of glaucoma similar to humans and are studied as a model of glaucoma in humans and animals. Here, post-natal development of IOP was characterized in normal domestic cats and in cats with FCG caused by a homozygous LTBP2 mutation. Rebound tonometry (TonoVet(®), ICare Oy, Finland) was used to measure IOP non-invasively, 2-3 times weekly in 63 FCG and 33 normal kittens, of both sexes, from eyelid opening until 3-6 months of age...
October 17, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29035183/atypical-presentation-of-acute-angle-closure-glaucoma-in-maroteaux-lamy-mucopolysaccharidosis-with-patent-prophylactic-laser-peripheral-iridotomy-a-case-report
#19
Malini Veerappan, Garrick Chak, Christine Shieh, Pratap Challa
INTRODUCTION: Maroteaux-Lamy syndrome (MLS) is a rare progressive condition characterized by inflammation and scarring of multiple organs. Ocular complications caused by anterior segment abnormalities commonly cause visual impairment in MLS. Angle-closure glaucoma is one such complication, but there are limited data on presentation, workup, and management of this condition. CASE PRESENTATION: This case report describes an atypical presentation of acute angle-closure glaucoma in a patient with MLS despite a prior prophylactic laser peripheral iridotomy-which would typically prevent an acute angle-closure attack-that was patent and intact at the time of angle closure...
2017: Permanente Journal
https://www.readbyqxmd.com/read/29027062/congenital-ectropion-uveae-with-glaucoma-a-case-report
#20
Rashmi Kumari, Bhawesh Chandra Saha
Congenital ectropion uveae (CEU) is a rare anomaly characterized by ectropion uveae, iris hypoplasia, iridotrabecular dysgenesis and glaucoma. The apparent ectropion uveae results from the spread of iris pigment epithelium beyond the iris ruff and onto the anterior surface of the iris. Conclusion Open-angle glaucoma results due to angle dysgenesis, so patients should be carefully examined periodically for its early detection.
October 12, 2017: International Ophthalmology
keyword
keyword
16959
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"