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Congenital glaucoma

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https://www.readbyqxmd.com/read/28345568/prognosis-of-different-glaucomas-seen-at-a-tertiary-center-a-10-year-overview
#1
Ramanjit Sihota, Neha Midha, Harathy Selvan, Talvir Sidhu, Deepa R Swamy, Ajay Sharma, Amisha Gupta, Viney Gupta, Tanuj Dada, Sunil Chaudhary
AIM: This study aims to determine treatment patterns, long-term intraocular pressure (IOP) and perimetric control in different glaucomas seen at a tertiary eye center. SETTINGS AND DESIGN: Hospital-based, cross-sectional chart review of patients routinely following up at an outpatient glaucoma service. METHODS: Patients with a follow-up of at least 10 years were evaluated. Their mean IOP, visual field (VF) status, and medications/surgery required at final assessment were noted...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28316196/-clinical-observation-on-the-treatment-of-untreatable-childhood-glaucoma-with-microcatheter-assisted-trabeculotomy
#2
H Z Wang, M Li, M Hu, Y W Wang, Y Shi, W W Wang, N L Wang
Objective: To evaluate the efficacy of microcatheter-assisted trabeculotomy for untreatable childhood glaucoma with traditional surgeries repeatedly. Methods: Clinical charts of fifteen cases (16 eyes) with childhood glaucoma patients from Beijing Tongren Hospital were retrospectively analyzed. All eyes had previously received 2 or more traditional anti-glaucoma surgeries. We performed microcatheter-assisted trabeculotomy for these patients. The intraocular pressure (IOP), numbers of anti-glaucoma medications and post-operative complications were analyzed...
March 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28302248/ocular-features-in-a-case-of-nevus-of-ota
#3
Murtaza Sameen Junejo, Muhammad Saim Khan, Ahsan Mukhtar
Oculodermal melanocytosis, also known as Nevus of Ota, is a hamartomatous melanocytic nevus of dermal melanocytes. It presents as a bluish grey patch on the face, which may be congenital or acquired involving the area of distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The nevus can be unilateral or bilateral, and, in addition to skin, it may involve ocular and oral mucosal surfaces. It is a rare disorder and the ocular complications, such as glaucoma and melanoma, may be vision or life-threatening...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28300742/newly-identified-paired-box-6-mutation-of-variant-familial-aniridia-congenital-iris-ectropion-with-foveal-hypoplasia
#4
Woo Jin Kim, Jong Ha Kim, Nam Chun Cho
Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene...
January 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28282485/contribution-of-mutations-in-known-mendelian-glaucoma-genes-to-advanced-early-onset-primary-open-angle-glaucoma
#5
Tiger Zhou, Emmanuelle Souzeau, Owen M Siggs, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Shiwani Sharma, Kathryn P Burdon, Jamie E Craig
Purpose: Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden accounted for by these known Mendelian glaucoma genes in a cohort of individuals with advanced early-onset POAG. Methods: The cases exhibited advanced POAG with young age of diagnosis. Cases and examined local controls were subjected to whole-exome sequencing...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28266150/two-year-results-of-microcatheter-assisted-trabeculotomy-in-paediatric-glaucoma-a-randomized-controlled-study
#6
Yasmine El Sayed, Ghada Gawdat
PURPOSE: To compare the outcomes of microcatheter-assisted circumferential trabeculotomy to standard rigid probe trabeculotomy in childhood glaucomas. METHODS: Eyes of children requiring trabeculotomy for primary congenital or secondary paediatric glaucoma were randomized to undergo either trabeculotomy using the Glaucolight illuminated microcatheter, or a rigid probe trabeculotomy. Complete success was defined as an intraocular pressure (IOP) of <18 mmHg without medications...
March 7, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28253873/extended-clinical-features-associated-with-novel-glis3-mutation-a-case-report
#7
K A Alghamdi, A B Alsaedi, A Aljasser, A Altawil, Naglaa M Kamal
BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency. CASE PRESENTATION: We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism...
March 2, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28251096/a-case-of-9p-deletion-syndrome-with-congenital-infantile-glaucoma-effective-method-of-diagnosis-and-treatment
#8
Xu Jia, Xu-Yang Liu, Xuan-Chu Duan
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28237965/genetic-dissection-of-anterior-segment-dysgenesis-caused-by-a-col4a1-mutation
#9
Mao Mao, Márton Kiss, Yvonne Ou, Douglas B Gould
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, between 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Type IV collagen alpha 1 (COL4A1) is an extracellular matrix protein and a critical component of nearly all basement membranes...
February 24, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28223208/characterizing-the-poagome-a-bioinformatics-driven-approach-to-primary-open-angle-glaucoma
#10
REVIEW
Ian D Danford, Lana D Verkuil, Daniel J Choi, David W Collins, Harini V Gudiseva, Katherine E Uyhazi, Marisa K Lau, Levi N Kanu, Gregory R Grant, Venkata R M Chavali, Joan M O'Brien
Primary open-angle glaucoma (POAG) is a genetically, physiologically, and phenotypically complex neurodegenerative disorder. This study addressed the expanding collection of genes associated with POAG, referred to as the "POAGome." We used bioinformatics tools to perform an extensive, systematic literature search and compiled 522 genes with confirmed associations with POAG and its related phenotypes (normal tension glaucoma, ocular hypertension, juvenile open-angle glaucoma, and primary congenital glaucoma)...
February 18, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28207433/long-term-clinical-course-in-eyes-with-peters-anomaly
#11
Haruna Yoshikawa, Chie Sotozono, Yoko Ikeda, Kazuhiko Mori, Morio Ueno, Shigeru Kinoshita
PURPOSE: Peters anomaly (PA) is known to be a primary cause of congenital corneal opacity. The aim of this study is to report the long-term clinical course and visual achievement of patients with PA who did not undergo keratoplasty. METHODS: This retrospective study involved 15 eyes of 9 infants with PA less than 5 months of age at initial presentation at the Kyoto Prefectural University of Medicine who were followed up without keratoplasty for more than 6 years after presentation...
February 15, 2017: Cornea
https://www.readbyqxmd.com/read/28192834/the-connection-between-hbs-heterozygosity-and-unilateral-vision-loss-in-a-child-with-congenital-glaucoma
#12
R I Bojinova, M G Todorova
No abstract text is available yet for this article.
February 13, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28146442/comparison-of-ex-press-shunt-and-trabeculectomy-with-mitomycin-c-in-congenital-and-juvenile-glaucoma
#13
David L Nash, Eric R Crouch, Earl R Crouch
PURPOSE: To compare efficacy and safety of EX-PRESS mini glaucoma shunt (Alcon) and trabeculectomy with mitomycin-C (MMC) in the management of pediatric glaucoma. METHODS: The authors retrospectively reviewed patients from a single pediatric ophthalmology practice with either congenital or juvenile glaucoma who underwent surgical treatment with either trabeculectomy or EX-PRESS shunt insertion with MMC. Postoperative intraocular pressure at 6, 18, and 36 months, medication requirements, visual acuities, postoperative interventions, complications, and noncompliance with medications or follow-up was reviewed...
February 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28139064/corneal-profile-in-primary-congenital-glaucoma
#14
Azadeh Doozandeh, Shahin Yazdani, Shabnam Ansari, Mohammad Pakravan, Tahmineh Motevasseli, Bagher Hosseini, Mehdi Yasseri
PURPOSE: To investigate biomechanical and ultrastructural corneal parameters and ocular biometrics in the affected eyes of patients with unilateral primary congenital glaucoma (PCG) as compared to unaffected fellow eyes and age-matched healthy controls. METHODS: A total of 12 patients with treated unilateral PCG and 10 normal subjects were evaluated. LENSTAR was performed to determine biometric parameters; the ocular response analyser was employed to determine biomechanical properties and slit-scanning confocal microscopy was used for evaluation of corneal ultrastucture...
January 31, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28138215/fellow-eye-in-unilateral-primary-congenital-glaucoma
#15
Nader Hl Bayoumi
AIM: This is a report of the incidence of bilateral cases in a cohort of primary congenital glaucoma (PCG) cases and a study of the biometric characteristics of the fellow normal eyes in unilateral cases. MATERIALS AND METHODS: The charts of 134 PCG children were reviewed, of which 78 cases (58.2%) were found to have bilateral disease. The remaining 56 patients (41.8%) with unilateral disease had their fellow normal eyes compared with an age-matched cohort of ophthalmologically free children...
January 2017: Journal of Current Glaucoma Practice
https://www.readbyqxmd.com/read/28131617/betab2-crystallin-mutations-associated-with-cataract-and-glaucoma-leads-to-mitochondrial-alterations-in-lens-epithelial-cells-and-retinal-neurons
#16
Jennifer E Dulle, Anne Rübsam, Sarah J Garnai, Hemant S Pawar, Patrice E Fort
Crystallin proteins are the most prominent protein of the lens and have been increasingly shown to play critical roles in other tissues, especially the retina. Members of all 3 sub-families of crystallins, alpha-, beta- and gamma-crystallins have been reported in the retina during diabetes, traumatic injury and other retinal diseases. While their specific role in the retina is still unclear and may vary, beta-crystallin proteins have been shown to play a critical role in ganglion cell survival following trauma...
January 26, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28126187/sturge-weber-syndrome-a-review
#17
E Higueros, E Roe, E Granell, E Baselga
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma...
January 23, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28076574/macular-hemorrhage-after-roller-coaster-riding-in-a-single-eyed-patient-with-congenital-glaucoma
#18
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
#19
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
#20
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
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