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Congenital glaucoma

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https://www.readbyqxmd.com/read/29677590/generation-of-a-human-induced-pluripotent-stem-cell-line-from-urinary-cells-of-a-patient-with-primary-congenital-glaucoma-using-integration-free-sendai-technology
#1
Jingxue Zhang, Shen Wu, Man Hu, Qian Liu
We have generated a human induced pluripotent stem cell (iPSC) line derived from urinary cells of a 10years old patient with primary congenital glaucoma (PCG). The cells were reprogrammed with the human OSKM transcription factors using the Sendai-virus delivery system and shown to have full differentiation potential. The line is available and registered in the human pluripotent stem cell registry as BIOi001-A.
April 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29675390/childhood-glaucoma-profile-in-dakahelia-egypt-a-retrospective-study
#2
Tharwat H Mokbel, Eman M El Hefney, Sherein M Hagras, Ahmed A ALNagdy, Amani E Badawi, Manal A Kasem, Shereen M El Shaer
AIM: To analyze childhood glaucoma regarding its demographics, presentations, different causes and surgical modalities used among patients in Dakahelia and to apply the Childhood Glaucoma Research Network (CGRN) classification retrospectively to evaluate its convenience. METHODS: A retrospective study in which the medical files of all glaucoma patients <16 years old presented to Mansoura Ophthalmic Center, Mansoura University from 2014 to 2017, were retrieved and analyzed...
2018: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/29643463/diagnostic-capacity-of-sd-oct-segmented-ganglion-cell-complex-versus-retinal-nerve-fiber-layer-analysis-for-congenital-glaucoma
#3
Laura Morales-Fernandez, Maria Jimenez-Santos, Jose M Martinez-de-la-Casa, Ruben Sanchez-Jean, Maria Nieves, Federico Saenz-Frances, Sofia Garcia-Saenz, Lucia Perucho, Rosario Gomez-de-Liaño, Julian Garcia-Feijoo
PURPOSE: To compare the diagnostic performance of circumpapillary retinal nerve fiber layer (cpRNFL) analysis versus segmented ganglion cell complex analysis both by spectral-domain optical coherence tomography (SD-OCT) in children with primary congenital glaucoma (PCG). METHODS: Participants were 40 children diagnosed with PCG and 60 healthy children. Ophthalmological data collected (for one eye per child) were cup-disc ratio (C/D) and axial length (AL). SD-OCT with automated segmentation was used to measure the thicknesses and volumes of the macular retinal nerve fiber layer (mRNFL), ganglion cell layer (GCL), and inner plexiform layer (IPL)...
April 12, 2018: Eye
https://www.readbyqxmd.com/read/29625838/suppression-of-melatonin-secretion-in-totally-visually-blind-people-by-ocular-exposure-to-white-light-clinical-characteristics
#4
Joseph T Hull, Charles A Czeisler, Steven W Lockley
PURPOSE: Although most totally visually blind individuals exhibit nonentrained circadian rhythms due to an inability of light to entrain the circadian pacemaker, a small proportion retain photic circadian entrainment, melatonin suppression, and other nonimage-forming responses to light. It is thought that these responses to light persist because of the survival of melanospin-containing intrinsically photosensitive retinal ganglion cells (ipRGCs), which project primarily to the circadian pacemaker and are functionally distinct from the rod and cone photoreceptors that mediate vision...
April 3, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29610849/temporary-piggyback-intraocular-lens-implantation-versus-single-intraocular-lens-implantation-in-congenital-cataracts-long-term-clinical-outcomes
#5
Sungsoon Hwang, Dong Hui Lim, Soomin Lee, Daye Diana Choi, Eui-Sang Chung, Tae-Young Chung
Purpose: To report the long-term results of temporary piggyback IOL implantation in congenital cataract and to compare the clinical outcomes of temporary piggyback IOL with those of single IOL implantation. Methods: This is a retrospective, comparative, interventional study. The medical records of all consecutive patients who underwent cataract extraction and single or temporary piggyback IOL implantation within the first 3 years of life from 1999 to 2013 at Samsung Medical Center were reviewed...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29607552/pathophysiology-and-management-of-glaucoma-associated-with-phakomatoses
#6
REVIEW
Alisa T Thavikulwat, Deepak P Edward, Abdulrahman AlDarrab, Thasarat S Vajaranant
The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe...
April 1, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29587488/clinical-outcomes-of-ahmed-glaucoma-valve-implantation-in-pediatric-glaucoma
#7
Mohammad Pakravan, Hamed Esfandiari, Shahin Yazdani, Azadeh Doozandeh, Zahra Dastborhan, Ebrahim Gerami, Bahareh Kheiri, Parastou Pakravan, Mehdi Yaseri, Kiana Hassanpour
PURPOSE: To evaluate the outcomes of Ahmed glaucoma valve implantation in refractory primary congenital glaucoma as well as primary procedure in aphakic glaucoma. METHOD: In this retrospective study, medical records of patients who underwent Ahmed glaucoma valve implantation for refractory glaucoma and aphakic glaucoma were reviewed. Primary outcome measures were the surgical success defined as intraocular pressure ≤21 mm Hg and decreased ≥20% and no secondary glaucoma surgery...
March 1, 2018: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29557836/glaucoma-with-crouzon-syndrome
#8
Abdulaziz Anazi Alshamrani, Sami Al-Shahwan
BACKGROUND: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis. OBSERVATION: A 10-year-old female patient with Crouzon syndrome and congenital glaucoma treated with trabeculectomy and ocular hypotensive medications was examined. The patient had proptosis, exposure keratopathy, megalocornea, thin central corneal thickness, a shallow anterior chamber, mild anterior subcapsular cataract, and a cup-to-disc ratio of 0...
March 19, 2018: Journal of Glaucoma
https://www.readbyqxmd.com/read/29556725/congenital-glaucoma-and-cyp1b1-an-old-story-revisited
#9
Hessa S Alsaif, Arif O Khan, Nisha Patel, Hisham Alkuraya, Mais Hashem, Firdous Abdulwahab, Niema Ibrahim, Mohammed A Aldahmesh, Fowzan S Alkuraya
Primary congenital glaucoma is a trabecular meshwork dysgenesis with resultant increased intraocular pressure and ocular damage. CYP1B1 mutations remain the most common identifiable genetic cause. However, important questions about the penetrance of CYP1B1-related congenital glaucoma remain unanswered. Furthermore, mutations in other genes have been described although their exact contribution and potential genetic interaction, if any, with CYP1B1 mutations are not fully explored. In this study, we employed modern genomic approaches to re-examine CYP1B1-related congenital glaucoma...
March 19, 2018: Human Genetics
https://www.readbyqxmd.com/read/29552671/angle-closure-glaucoma-in-congenital-ectropion-uvea
#10
Grace M Wang, Daniel Thuente, Brenda L Bohnsack
Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29543621/retinal-neovascularization-from-a-patient-with-cutis-marmorata-telangiectatica-congenita
#11
Thérèse M Sassalos, Taylor S Fields, Robert Levine, Hua Gao
PURPOSE: To report a rare case of peripheral retinal neovascularization in a patient diagnosed with cutis marmorata telangiectatica congenita (CMTC). METHODS: Observational case report. RESULTS: A 16-year-old girl was referred to clinic for retinal evaluation. The patient had a clinical diagnosis of CMTC later confirmed by skin biopsy. Examination revealed temporal peripheral retinal sheathing, as well as lattice degeneration in both eyes...
March 14, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29530780/ajo-centennial-ajo-contributions-to-ophthalmic-genetics
#12
Ian M MacDonald, Pamela C Sieving
PURPOSE: To review the contributions to ophthalmic genetics through the American Journal of OphthalmologyDesign: Perspective. METHODS: A literature search to retrieve original articles, letters, editorials, and published lectures from 1966 to 2017, providing a 50 year review. Titles were excluded that gave no reference to genetics or presented findings related to a non-genetic ocular condition. RESULTS: From a search of the Scopus database, 719 articles were ascertained...
March 9, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29517120/relationship-between-corneal-sensitivity-corneal-thickness-corneal-diameter-and-intraocular-pressure-in-normal-cats-and-cats-with-congenital-glaucoma
#13
Mary R Telle, Nickolas Chen, Daniel Shinsako, Julie A Kiland, Kazuya Oikawa, Ralph Møller Trane, Gillian J McLellan
OBJECTIVE: To determine the effect of feline congenital glaucoma (FCG) on corneal sensitivity, and relationships between corneal sensitivity, central corneal thickness (CT), and corneal diameter (CD). ANIMALS AND PROCEDURES: Corneal sensitivity (estimated by corneal touch threshold [CTT] using Cochet-Bonnet esthesiometry); CT using ultrasonic pachymetry; intraocular pressure (IOP) using rebound tonometry; and maximal horizontal CD were measured in 16 normal and 14 FCG cats, both males and females, aged 7 months-3...
March 8, 2018: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/29508528/epidemiology-and-clinical-presentation-of-feline-cataracts-in-france-a-retrospective-study-of-268-cases
#14
Alexandre Guyonnet, Elise Donzel, Aurélie Bourguet, Sabine Chahory
OBJECTIVE: To describe the epidemiology and the clinical presentation of cataracts in a population of cats in France. PROCEDURES: A review of medical records of cats presented to the Ophthalmology Unit of the National Veterinary School of Alfort between January 2010 and June 2017 was carried out to identify cats affected by cataracts. The signalment of affected cats, medical history, etiology of cataract, age of onset, stage of development, location of opacities, and concurrent ocular lesions were evaluated...
March 6, 2018: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/29506241/pitx2-deficiency-and-associated-human-disease-insights-from-the-zebrafish-model
#15
Kathryn E Hendee, Elena A Sorokina, Sanaa S Muheisen, Linda M Reis, Rebecca C Tyler, Vujica Markovic, Goran Cuturilo, Brian A Link, Elena V Semina
The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1 (ARS), an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in addition to this, one report implicated PITX2 in ring dermoid of the cornea and a few others described cardiac phenotypes...
March 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29503954/mucogenic-glaucoma-in-a-child
#16
Ta C Chang, Linda Y Huang, Kara M Cavuoto
Purpose: We describe a case of secondary open-angle glaucoma due to mucin-producing congenital iris stromal cyst in a 4 year old patient. Observations: A 4-year old female patient with a history of unilateral congenital iris stromal cyst presented with sudden-onset eye pain and redness, with markedly elevated intraocular pressure and evidence of early optic nerve damage. During the examination under anesthesia, the anterior chamber angle was open and there was no evidence of pupillary block...
April 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29487815/trabeculectomy-with-ologen-implant-versus-mitomycin-c-in-congenital-glaucoma-secondary-to-sturge-weber-syndrome
#17
Thanaa Helmy Mohamed, Abdelrahman Gaber Salman, Riham Fawzy Elshinawy
AIM: To compare the efficacy and safety of collagen matrix implant [Ologen (OLO) implant] versus mitomycin C (MMC) with subscleral trabeculectomy (SST) for the surgical treatment of congenital glaucoma (CG) in Sturge-Weber Syndrome (SWS). METHODS: A prospective comparative randomized study of 20 eyes of 16 patients with CG associated with SWS was divided into two groups. The first group (MMC Group) included 10 eyes that were subjected to SST with MMC. The second group (OLO Group) included 10 eyes that were subjected to trabeculectomy with a collagen matrix implant (OLO implant)...
2018: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/29468208/novel-use-of-fibrin-sealant-for-scleral-suture-free-placement-of-a-glaucoma-drainage-device-in-advanced-scleral-thinning
#18
Justin D Harvey, Ronald L Gross, Brian D McMillan
Purpose: This reports a case using fibrin glue to secure a glaucoma drainage device plate to the sclera where there is a concern with the use of suture. Observations: A 13-year-old patient with congenital aniridia and associated glaucoma refractory to topical medications underwent implantation of a glaucoma drainage device (GDD) for improved intraocular pressure (IOP) control. The patient had substantial scleral thinning with staphyloma formation, potentially making the use of traditional suturing techniques problematic...
March 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29453128/generation-of-a-human-ipsc-line-from-a-patient-with-congenital-glaucoma-caused-by-mutation-in-cyp1b1-gene
#19
Arantxa Bolinches-Amorós, Dunja Lukovic, Ana Artero Castro, Marian León, 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.
April 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
#20
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
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