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Congenital glaucoma

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https://www.readbyqxmd.com/read/28076574/macular-hemorrhage-after-roller-coaster-riding-in-a-single-eyed-patient-with-congenital-glaucoma
#1
Dilek Guven, Zeynep Acar, Mehmet Demir, Yekta Sendul, Atilla Gokce Demir, Erdem Ergen
A 21-year-old female presented with a 4-day history of decreased vision in her only functional eye (right eye, OD). She had a history of multiple ocular surgeries in both eyes because of congenital glaucoma and had lost light perception in her left eye several years prior. Ophthalmological examination revealed 0.15 Snellen visual acuity, and fundoscopy revealed nearly total cupping and pallor of the optic disc and multiple retinal hemorrhagic foci in the macula in OD. Lesions spontaneously resolved over a few months...
November 2016: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/28073365/neurophthalmological-conditions-mimicking-glaucomatous-optic-neuropathy-analysis-of-the-most-common-causes-of-misdiagnosis
#2
Diego Torres Dias, Michele Ushida, Roberto Battistella, Syril Dorairaj, Tiago Santos Prata
BACKGROUND: To analyze the most common neurophthalmological conditions that may mimic glaucomatous optic neuropathy and to determine which most often lead to misdiagnosis when evaluated by a glaucoma specialist. METHODS: We reviewed the charts of consecutive patients with optic neuropathies caused by neurophthalmological conditions screened in a single Eye Clinic within a period of 24 months. Within these enrolled patients, we selected the eyes whose fundoscopic appearance could resemble glaucoma based in pre-defined criteria (vertical cup-to-disc ratio ≥0...
January 10, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28064423/pathophysiology-diagnosis-and-management-of-glaucoma-associated-with-sturge-weber-syndrome
#3
REVIEW
Usman Javaid, Muhammad Hassaan Ali, Samreen Jamal, Nadeem Hafeez Butt
PURPOSE: Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal hemangioma, facial angiomatosis or nevus flammeus, and ocular changes. SWS can lead to severe complications of anterior segment involving conjunctiva and eyelids, whereas posterior segment of the eye may also be affected by diffuse choroidal hemorrhages. This article was written with the objectives to determine the pathophysiology, diagnosis, and treatment of glaucoma associated with this rare and challenging disorder...
January 7, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28038923/charles-bonnet-syndrome-in-a-child-with-congenital-glaucoma
#4
E Santos-Bueso, M Serrador-García, F Sáenz-Francés, C Méndez-Hernández, L Morales-Fernández, J M Martínez-de-la-Casa, J García-Feijoo, J Porta-Etessam
CASE REPORT: The case is presented of a 12 year-old boy with congenital glaucoma and low visual acuity diagnosed with Charles Bonnet syndrome. This consisted of the acute onset of complex, repetitive, persistent, and with visual hallucinations (people, brooms and coffeemakers) of self-limited evolution without treatment. The patient was diagnosed with congenital glaucoma at 3 years of age, and subjected to a trabeculectomy in right eye, and trabeculectomy and keratoplasty in his left eye...
December 27, 2016: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28003733/mmp19-expression-in-the-human-optic-nerve
#5
Kathleen R Chirco, Ralph J Hazlewood, Kathy Miller, Grefachew Workalemahu, Lee M Jampol, G Robert Lesser, Robert F Mullins, Markus H Kuehn, John H Fingert
PURPOSE: The defining feature of glaucoma is excavation of the optic nerve head; however, the mechanism of this loss of tissue is not well understood. We recently discovered a copy number variation upstream of matrix metalloproteinase 19 (MMP19) in a large, autosomal dominant pedigree with a congenital malformation of the optic disc called cavitary optic disc anomaly (CODA). Patients with CODA have abnormal optic discs that exhibit an excavated shape similar to cupping seen in glaucoma...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27989225/-unaffected-child-born-following-preimplantation-genetic-diagnosis-with-karyomapping
#6
László Nánássy, Gyöngyvér Téglás, Marianna Csenki, Attila Vereczkey
Preimplantation genetic diagnosis for single gene defects is a well established method in assisted reproductive technologies. Karyomapping is a genome wide parental haplotyping using a high density single nucleotide polymorphism array that allows the diagnosis of any single gene defects. A couple with an affected child with primary congenital glaucoma attended at our clinic. Six oocyte-cumulus-complex was retrieved and all three mature oocytes were inseminated. One zygote showed the signs of normal fertilization and was cultured for five days...
December 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27968868/timing-and-approaches-in-congenital-cataract-surgery-a-randomised-controlled-trial
#7
Weirong Chen, Erping Long, Jingjing Chen, Zhenzhen Liu, Zhuoling Lin, Qianzhong Cao, Xiaohang Wu, Qiwei Wang, Duoru Lin, Xiaoyan Li, Lixia Luo, Bo Qu, Haotian Lin, Yizhi Liu
BACKGROUND: The optimum timing of surgery and the approach that should be used during congenital cataract surgery are controversial and present challenges for paediatric cataract surgeons in China. The aim of this study was to compare visual prognoses and postoperative adverse effects of paediatric cataract surgery done at different times and using different surgical approaches. METHODS: In this prospective, randomised controlled trial, we recruited Chinese patients aged 3 months or younger who were diagnosed with bilateral diffuse or total cataracts, but who did not have coexisting ocular, systemic or neurological diseases...
October 2016: Lancet
https://www.readbyqxmd.com/read/27941161/angiopoietin-tie-signalling-in-the-cardiovascular-and-lymphatic-systems
#8
REVIEW
Lauri Eklund, Jaakko Kangas, Pipsa Saharinen
Endothelial cells that form the inner layer of blood and lymphatic vessels are important regulators of vascular functions and centrally involved in the pathogenesis of vascular diseases. In addition to the vascular endothelial growth factor (VEGF) receptor pathway, the angiopoietin (Ang)-Tie system is a second endothelial cell specific ligand-receptor signalling system necessary for embryonic cardiovascular and lymphatic development. The Ang-Tie system also regulates postnatal angiogenesis, vessel remodelling, vascular permeability and inflammation to maintain vascular homoeostasis in adult physiology...
January 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/27928401/idiopathic-acquired-temporal-wedge-visual-field-defects
#9
Michael J Gilhooley, Clare L Fraser, Sui Wong, Simon J Hickman, Gordon T Plant
Our aim is to report 13 unusual cases of acquired, temporal sectoral scotomas. Such stationary "wedge" field defects have been reported previously in cases of presumed congenital nasal hypoplasia of the optic disc and as a complication of vitreoretinal surgery. To our knowledge, the literature provides no reports of similar defects occurring spontaneously. This is a descriptive clinical case series of 13 patients presenting with sub-acute monocular temporal visual field loss. All were clinically assessed and investigated with Goldmann perimetry, automated Humphrey visual fields, retinal optical coherence tomography, orbital ultrasound, and standard and multi-focal electroretinography...
August 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27916715/360-degree-trabeculotomy-for-medically-refractory-glaucoma-following-cataract-surgery-and-juvenile-open-angle-glaucoma
#10
Maria E Lim, Jennifer B Dao, Sharon F Freedman
PURPOSE: While angle surgeries show good success in primary congenital glaucoma, reported success in glaucoma following cataract surgery (GFCS) and juvenile open angle glaucoma (JOAG) is variable and with relatively short follow-up. We evaluated longer-term outcomes of 360-trabeculotomy for medically-refractory GFCS and JOAG. DESIGN: Retrospective case series. METHODS: First operated eyes of consecutive patients with medically-refractory GFCS and JOAG in a single-surgeon pediatric glaucoma practice who underwent illuminated microcatheter-assisted 360-trabeculotomy from 2/2008-6/2015 were reviewed...
December 1, 2016: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/27914834/glaucoma-and-congenital-zika-syndrome
#11
Bruno de Paula Freitas, Albert I Ko, Ricardo Khouri, Monica Mayoral, Daniele Freitas Henriques, Maurício Maia, Rubens Belfort
No abstract text is available yet for this article.
November 18, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27911017/congenital-glaucoma-detected-by-unilateral-megalophthalmos-on-prenatal-sonography
#12
Sarah Gennette, Steve J Carlan, John Busowski, Mario Madruga, Jeannie McWhorter
A 36-week male fetus was noted to have isolated right megalophthalmos on prenatal ultrasound and was found to have buphthalmos and congenital glaucoma at birth. Detection of congenital glaucoma at birth may be occasionally possible if abnormal orbit dimensions are noted on late prenatal sonographic examination. Early neonatal intervention may improve the chances to retain vision. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound, 2016.
December 2, 2016: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/27905331/prevalent-practice-patterns-in-glaucoma-poll-of-indian-ophthalmologists-at-a-national-conference
#13
Nikhil Shreeram Choudhari, Vanita Pathak-Ray, Sushmita Kaushik, Prateep Vyas, Ronnie George
PURPOSE: The aim of this study is to explore and compare the prevailing practice patterns in the diagnosis and management of glaucoma among subspecialists and general ophthalmologists in India. MATERIALS AND METHODS: This is an interactive audience response system (ARS) based poll of ophthalmologists attending the annual conference of the Glaucoma Society of India in 2013. RESULTS: The information was obtained from 379 ophthalmologists (146 glaucoma specialists, 54 nonglaucoma subspecialists, and 179 general ophthalmologists)...
October 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27887956/-childhood-s-ophthalmologic-involvement-in-sturge-weber-krabbe-syndrome
#14
M Wirth, M-C Bazard, E Schmitt, M Rouabah, J-M Hascoët
Ophthalmologic involvement in Sturge-Weber-Krabbe syndrome (SWKS) is present in 30-70% of cases and needs to be reviewed because of its impact on visual development. We report a case of a newborn for whom SSWK with ophthalmologic involvement was suspected. She had a right segmental plane angioma associated with right congenital glaucoma and suspected right pial angioma. Ophthalmic involvement in SWKS may be nonocular: iatrogenic by treatment-associated complications and central by leptomeningeal damage. Ophthalmologic involvement can occur throughout childhood and is mainly represented by glaucoma and diffuse choroidal hemangioma and then conjunctival hemangioma, retinal detachment, and iris heterochromia...
January 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27887794/retinoschisis-and-neurosensory-detachment-in-advanced-focal-glaucoma
#15
E Arranz-Márquez, E Jarrín Hernández, A Pastor, J García Gil de Bernabé
CLINICAL CASE: A 71-year-old woman with normotensive primary open-angle glaucoma presented with an asymptomatic temporal peripapillary retinoschisis, associated with serous retinal detachment in the eye with the more advanced glaucoma. It was located at the inferior pole of the optic disc, in the proximity of a glaucomatous focal disc defect. DISCUSSION: Although congenital optic pits are strongly related with juxta-papillary retinoschisis, retinoschisis can also arise from acquired defects in the proximity of glaucomatous optic discs...
November 22, 2016: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/27820421/cyp1b1-mutations-in-individuals-with-primary-congenital-glaucoma-and-residing-in-denmark
#16
Karen Grønskov, Alba Redó-Riveiro, Lisbeth Sandfeld, Nathalie Zibrandtsen, Pernille Harris, Daniella Bach-Holm, Zeynep Tümer
PURPOSE OF THE STUDY: Primary congenital glaucoma (PCG OMIM 231300) can be caused by pathogenic sequence variations in cytochrome P450, subfamily 1, polypeptide 1 (CYP1B1). The purpose of this study was to investigate the contribution of sequence variations in CYP1B1 in a cohort of individuals with PCG residing in Denmark. METHODS: The study included 37 unrelated individuals with PCG. Individuals were investigated for CYP1B1 mutations by Sanger sequencing of polymerase chain reaction products using BigDye terminators and capillary electrophoresis...
December 2016: Journal of Glaucoma
https://www.readbyqxmd.com/read/27799829/bleb-incarceration-following-ahmed-valve-surgery
#17
Fredric J Gross, Giovanni DiSandro
Globe luxation is a painful and potentially vision-threatening condition in which the globe becomes trapped behind the eyelids requiring physician intervention in the emergency department or eye clinic. On presentation, the patient typically complains of an inability to close their eye, severe foreign body sensation, decreased vision, and significant eye pain. Although most visual symptoms are reversible and primarily result from exposure keratopathy, optic nerve damage, and permanent vision loss can occur from repeat or prolonged episodes of globe luxation...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27783089/persistent-corneal-edema-associated-with-subconjunctival-5-fluorouracil-in-an-infant-with-primary-congenital-glaucoma
#18
Gregory L Fu, Janet L Alexander, Osamah J Saeedi
A 3-month-old boy with primary congenital glaucoma developed a transient corneal endothelial opacity after needle bleb revision with adjunctive 5-fluorouracil. This case presents a rare toxicity that, although transient, is concerning due to the potential of amblyopia. The authors review prior cases of corneal opacity associated with 5-fluorouracil. [J Pediatr Ophthalmol Strabismus. 2016;53:e54-e57.].
October 22, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27777502/analysis-of-cyp1b1-in-pediatric-and-adult-glaucoma-and-other-ocular-phenotypes
#19
Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27745894/-incidence-and-causes-of-visual-impairment-in-the-district-of-mahdia-in-east-tunisia-retrospective-study-of-1487%C3%A2-cases
#20
W Ammari, S Harrath, S Mbarek, A Mahmoud, W Chebbi, R Messaoud, M Khairallah
OBJECTIVE: To study socio-demographic characteristics and main causes related to visual impairment (VI) as a function of age bracket and to analyze their trends over time in the district of Mahdia. METHOD: A retrospective review was performed on 1487 cases of visual impairment registered with the social authorities in Mahdia, between 1980 and 2013. The social, demographic, vision exam findings and causes were ascertained and analyzed in an SPSS database. Incidence rates of VI and blindness due to various causes were calculated based on the demographic data from the NSI to estimate the time trends using the general linear regression model and Spearman correlation...
November 2016: Journal Français D'ophtalmologie
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