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Congenital glaucoma

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https://www.readbyqxmd.com/read/29453128/generation-of-a-human-ipsc-line-from-a-patient-with-congenital-glaucoma-caused-by-mutation-in-cyp1b1-gene
#1
Arantxa Bolinches-Amorós, Dunja Lukovic, Ana Artero Castro, Marian León Rodriguez, Kunka Kamenarova, Radka Kaneva, Pavla Jendelova, Fiona Blanco-Kelly, Carmen Ayuso, Marta Cortón, Slaven Erceg
The human iPSC cell line, GLC-FiPS4F1 (ESi047-A), derived from dermal fibroblast from the patient with congenital glaucoma caused by the mutation of the gene CYP1B1, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors.
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29394197/microcatheter-assisted-trabeculotomy-versus-two-site-trabeculotomy-with-the-rigid-probe-trabeculotome-in-primary-congenital-glaucoma
#2
Yasmine El Sayed, Ghada Gawdat
PURPOSE: To compare outcomes of microcatheter-assisted trabeculotomy to circumferential trabeculotomy using the rigid probe trabeculotome in primary congenital glaucoma (PCG). METHODS: This retrospective study was performed in an institutional setting. The medical records of PCG patients that underwent circumferential trabeculotomy (≥270° incised) using Glaucolight illuminated microcatheter or a rigid probe trabeculotome were reviewed. The primary outcomes were the percent reduction of intraocular pressure (IOP) and success rates...
February 1, 2018: Journal of Glaucoma
https://www.readbyqxmd.com/read/29387929/the-starflo-glaucoma-implant-preliminary-12%C3%A2-months-results
#3
Sofia Fili, Peter Wölfelschneider, Markus Kohlhaas
PURPOSE: The STARflo glaucoma implant is a drainage-free system designed for the operative treatment of refractory open-angle glaucoma. The purpose of this study is to investigate the safety and efficacy of the STARflo implant. The results of 12 months follow-up are presented in patients with open-angle glaucoma, PEX-glaucoma, and congenital glaucoma. METHODS: A prospective study with a total of over 29 patients (36 eyes), in which the suprachoroidal implantation of the STARflo was indicated for long-term intraocular pressure reduction, is still in process and evaluation...
February 1, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29384564/mitomycin-c-in-filtering-surgery-for-primary-congenital-glaucoma-a-comparison-of-exposure-durations
#4
Nader H Bayoumi
PURPOSE: To compare the effect of two exposure durations of mitomycin C in combined angle and filtering surgery for primary congenital glaucoma. METHODS: This was a prospective study conducted in the Department of Ophthalmology at Alexandria Main University Hospital, Alexandria, Egypt, on 75 eyes with primary congenital glaucoma that underwent combined trabeculotomy-trabeculectomy with intraoperative mitomycin C application for 1 minute (MMC 1) or 2 minutes (MMC 2) and were followed up for 24 months...
January 31, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29380764/identification-of-a-novel-frameshift-mutation-in-pax6-gene-and-the-clinical-management-in-an-asian-indian-aniridia-family
#5
Isham Palayil, S G Priya, N V Sarath Sivan, Nivean Madhivanan, Panneer Selvam Venkatachalam, Madhavan Jagadeesan
PURPOSE: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. METHODS: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. RESULTS: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis...
February 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29358615/neuromyopathy-with-congenital-cataracts-and-glaucoma-a-distinct-syndrome-caused-by-polg-variants
#6
Claudia Castiglioni, Fabiana Fattori, Bjarne Udd, Maria de Los Angeles Avaria, Bernardita Suarez, Adele D'Amico, Alessandro Malandrini, Rosalba Carrozzo, Daniela Verrigni, Enrico Bertini, Giorgio Tasca
We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle MRI showed consistent features across patients, with a peculiar concentric disto-proximal gradient of fatty replacement...
January 22, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29356367/new-horizons-in-congenital-glaucoma-surgery
#7
EDITORIAL
Franz Grehn
No abstract text is available yet for this article.
February 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29349523/prognostic-factors-of-pediatric-glaucoma-a-retrospective-study
#8
Marilita M Moschos, Eirini Nitoda, Isabelle Fenzel, Xuefei Song, Achim Langenbucher, Barbara Kaesmann, Berthold Seitz, Zisis Gatzioufas
PURPOSE: To correlate the features of certain types of infantile glaucoma with the progression and the prognosis of the disease, highlighting probable risk factors. METHODS: Seventy-six patients with pediatric glaucoma were recruited in this retrospective study. All patients underwent ophthalmological examination in the Department of Ophthalmology of the Saarland University Medical Center from January 2001 to December 2012. Our pediatric patients were classified into four different categories of glaucoma: (1) primary congenital glaucoma (presenting buphthalmus), (2) aniridia-related glaucoma, (3) Peters/Rieger's anomaly-related glaucoma and (4) congenital cataract-related glaucoma...
January 18, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29339498/mafa-missense-mutation-causes-familial-insulinomatosis-and-diabetes-mellitus
#9
Donato Iacovazzo, Sarah E Flanagan, Emily Walker, Rosana Quezado, Fernando Antonio de Sousa Barros, Richard Caswell, Matthew B Johnson, Matthew Wakeling, Michael Brändle, Min Guo, Mary N Dang, Plamena Gabrovska, Bruno Niederle, Emanuel Christ, Stefan Jenni, Bence Sipos, Maike Nieser, Andrea Frilling, Ketan Dhatariya, Philippe Chanson, Wouter W de Herder, Björn Konukiewitz, Günter Klöppel, Roland Stein, Márta Korbonits, Sian Ellard
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree with autosomal dominant inheritance of diabetes mellitus or insulinomatosis, an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors of the pancreas. Using exome sequencing, we identified a missense MAFA mutation (p...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29333836/-phakomatosis-pigmentovascularis-cesioflammea-a-case-report
#10
María C Viada Peláez, Paola C Stefano, Ana Cirio, Andrea B Cervini
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29325387/-clinical-effects-of-pediatric-penetrating-keratoplasty-for-congenital-corneal-opacity
#11
S W Li, C Liu, T H Chen, J H Ning, T Zhang, F J Lyu, M Xu
Objective: To report the clinical results of pediatric penetrating keratoplasty (PKP) in patients under 3 years old with congenital corneal opacity. Methods: Retrospective study. Sixteen eyes of 12 patients who were treated with PKP in Aier Eye Hospital Group from June 2009 to December 2016 were enrolled in this study. All the patients were diagnosed as congenital corneal opacities: 8 cases (11 eyes) with Peter's anomaly I, 2 cases (3 eyes) with sclerocornea, and 2 cases (2 eyes) with corneal dermoid tumor combined with iris synechia...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29314435/mutation-update-of-transcription-factor-genes-foxe3-hsf4-maf-and-pitx3-causing-cataracts-and-other-developmental-ocular-defects
#12
Deepti Anand, Smriti A Agrawal, Anne Slavotinek, Salil A Lachke
Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital lens defects including cataracts that may be accompanied by defects in other components of the eye or in non-ocular tissues. We comprehensively describe here all the variants in FOXE3, HSF4, MAF, and PITX3 genes linked to human developmental defects. A total of 52 variants for FOXE3, 18 variants for HSF4, 20 variants for MAF, and 19 variants for PITX3 identified so far in isolated cases or within families are documented...
January 4, 2018: Human Mutation
https://www.readbyqxmd.com/read/29249729/bilateral-anterior-segment-dysgenesis-with-the-presumed-peters-anomaly-in-a-cat
#13
Sangwan Park, Kiwoong Kim, Youngbeum Kim, Kangmoon Seo
A seven-month-old female domestic shorthaired cat was presented for buphthalmos in the right eye and corneal cloudiness in the left eye. Full ophthalmic examinations were performed for both eyes and enucleation was done for the right nonvisual eye. Congenital glaucoma caused by anterior segment dysgenesis was confirmed for the right eye. In the left eye, slit-lamp examination revealed focal corneal edema with several iris strands from iris collarette to the affected posterior corneal surfaces. Circular posterior corneal defect was suggested to be the cause of edema...
December 15, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29234227/eradicating-primary-congenital-glaucoma-from-saudi-arabia-the-case-for-a-national-screening-program
#14
REVIEW
Rizwan Malik, Rajiv Khandekar, Trishal Boodhna, Zuhair Rahbeeni, Abdul Elah Al Towerki, Deepak P Edward, Khaled Abu-Amero
The prevalence of primary congenital glaucoma (PCG) in Saudi Arabia is high and the condition is a cause of childhood blindness in the country. Children often present with severe disease, requiring multiple procedures and a lifetime of medical care. The social and economic burden of the condition is substantial. Presently, the mainstay of management is early diagnosis and treatment of PCG. Premarital screening, especially in recessive diseases, such as PCG can be immensely useful by detecting the presence of a defect in the causative gene, followed by genetic counseling to potential couples that will lead to eradication of the disease in future generations...
October 2017: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29226564/-lowe-syndrome-a-particularly-severe-phenotype-without-clinical-kidney-involvement
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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