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https://www.readbyqxmd.com/read/29426455/bilateral-simultaneous-artificial-iris-implantation-for-post-traumatic-aniridia-a-case-report
#1
Matteo Forlini, Purva Date, Barbara Gruber, Cesare Forlini
No abstract text is available yet for this article.
February 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29408907/five-year-outcomes-of-boston-type-i-keratoprosthesis-as-primary-versus-secondary-penetrating-corneal-procedure-in-a-matched-case-control-study
#2
Kai B Kang, Faris I Karas, Ruju Rai, Joelle A Hallak, Joann J Kang, Jose de la Cruz, Maria S Cortina
Despite improved retention and reduced complication rates paving the way for the current expansion of applications and surge in prevalence for the Boston type I Keratoprosthesis (KPro), the most frequent indication for its implantation today remains prior graft failure. The purpose of this study is to evaluate the long-term outcomes of primary KPro and compare to secondary implantation in a matched cohort study. This study included patients who underwent KPro implantation in a single center by two surgeons between July 2008 and October 2014...
2018: PloS One
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
#3
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/29378178/limbal-stem-cell-deficiency-demography-and-underlying-causes
#4
Jayesh Vazirani, Dhanyasree Nair, Swapna Shanbhag, Siva Wurity, Abhishek Ranjan, Virender Sangwan
PURPOSE: To determine the demographic features of patients affected by limbal stem cell deficiency (LSCD), and to identify the underlying causes of LSCD DESIGN: Retrospective, multi-center case series SETTING: Two large tertiary care ophthalmology hospitals SUBJECTS: Patients with a diagnosis of LSCD presenting from January 1, 2005 to December 31, 2014 METHODS: Records of patients with a clinical diagnosis of LSCD were reviewed. Demographic details and clinical features at presentation, as well as the underlying cause of LSCD (if identified) were noted...
January 26, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29349523/prognostic-factors-of-pediatric-glaucoma-a-retrospective-study
#5
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/29343077/delayed-onset-of-sleep-in-adolescents-with-pax6-haploinsufficiency
#6
Alyson E Hanish, Joan C Han
OBJECTIVE: PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome. Given the role of PAX6 in pineal development and circadian regulation, adolescents with PAX6+/- may experience sleep-wake disturbances. The purpose of this observational study was to explore sleep-related phenotypes in adolescents with PAX6+/-...
January 1, 2018: Biological Research for Nursing
https://www.readbyqxmd.com/read/29238604/novel-pax6-mutation-reported-in-an-aniridia-patient
#7
Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida
An aniridia patient was found to have a novel PAX6 mutation. A genetic duplication within PAX6, which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29217025/correlation-of-novel-pax6-gene-abnormalities-in-aniridia-and-clinical-presentation
#8
Naif S Sannan, Cheryl Y Gregory-Evans, Christopher J Lyons, Anna M Lehman, Sylvie Langlois, Simon J Warner, Helen Zakrzewski, Kevin Gregory-Evans
OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging were performed...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29208836/clinical-outcomes-in-traumatic-pseudophacocele-a-rare-clinical-entity
#9
Priya Narang, Amar Agarwal
PURPOSE: The purpose of this study is to evaluate the clinical outcomes in patients with traumatic pseudophacocele. METHODS: In this retrospective, interventional case series, scleral wound repair with pars plana vitrectomy and glued intrascleral fixation of an intraocular lens (glued IOL) was performed in 5 eyes of 5 patients. Pupilloplasty was performed in 3 cases whereas aniridia glued IOL fixation was done in 1 case that had total avulsion and loss of iris tissue...
December 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29162348/human-aniridia-limbal-epithelial-cells-lack-expression-of-keratins-k3-and-k12
#10
Lorenz Latta, Arne Viestenz, Tanja Stachon, Sarah Colanesi, Nóra Szentmáry, Berthold Seitz, Barbara Käsmann-Kellner
Patients with aniridia often develop aniridia-related keratopathy (ARK), due to limbal stem cell insufficiency. This study aimed to determine the proliferative capacity and differentiation status of limbal epithelial cells (LECs) in patients with ARK. We also investigated the influences of PAX6 genotype on PAX6-transcript and protein level. Here two patients with aniridia underwent keratoplasty were examined. During the surgery, small limbal biopsies and pannus tissue were excised and processed for cell culture...
November 18, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29141386/-clinical-characteristics-and-surgical-effect-observation-of-congenital-aniridia-combined-with-cataract
#11
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/29133179/stage-related-central-corneal-epithelial-transformation-in-congenital-aniridia-associated-keratopathy
#12
Neil Lagali, Bogumil Wowra, Dariusz Dobrowolski, Tor Paaske Utheim, Per Fagerholm, Edward Wylegala
PURPOSE: To relate central corneal epithelial phenotype to degree of keratopathy in a limbal stem cell deficient population. METHODS: 37 patients (67 eyes) with aniridia-associated keratopathy (AAK) underwent corneal examination including slit lamp biomicroscopy to determine the Grade of AAK, Cochet-Bonnet esthesiometry, and in vivo confocal microscopy (IVCM) to assess morphology of the central corneal epithelium and subepithelial region. RESULTS: AAK Grade ranged from 1 (limbal involvement only) to 4 (total conjunctivalisation), with progression from Grade 1 occurring after the age of 20...
November 10, 2017: Ocular Surface
https://www.readbyqxmd.com/read/29101006/corneal-abnormalities-in-congenital-aniridia-congenital-central-corneal-opacity-versus-aniridia-associated-keratopathy
#13
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...
January 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29061165/sustained-endocrine-profiles-of-a-girl-with-wagr-syndrome
#14
Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga
BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. CASE PRESENTATION: We report a 5-year-old girl with the typical phenotype of WAGR syndrome...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29034075/structural-brain-abnormalities-in-12-persons-with-aniridia
#15
Madison K Grant, Anastasia M Bobilev, Jordan E Pierce, Jon DeWitte, James D Lauderdale
Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development.  The ocular abnormalities of aniridia have been well characterized, but mounting evidence has implicated brain-related phenotypes as a prominent feature of this disorder as well.  Investigations using neuroimaging in aniridia patients have shown reductions in discrete brain structures and changes in global grey and white matter...
2017: F1000Research
https://www.readbyqxmd.com/read/28990998/intermediate-term-and-long-term-outcomes-with-the-boston-type-1-keratoprosthesis-in-aniridia
#16
Kevin J Shah, Albert Y Cheung, Edward J Holland
PURPOSE: To report the intermediate- and long-term visual outcomes and complications with the Boston type 1 keratoprosthesis (KPro) for the management of aniridic keratopathy. METHODS: A retrospective chart review of 46 eyes of 34 patients (20 females and 14 males) with aniridic keratopathy who underwent Boston type 1 KPro surgery by a single surgeon from 2004 to 2012 with minimum 2-year follow-up was conducted. Preoperative, intraoperative, and postoperative parameters were collected and analyzed...
October 5, 2017: Cornea
https://www.readbyqxmd.com/read/28979012/focal-dermal-hypoplasia-goltz-syndrome-a-cross-sectional-study-from-eastern-india
#17
Sudip Kumar Ghosh, Abhijit Dutta, Sharmila Sarkar, Shanka Subhra Nag, Surajit Kumar Biswas, Prabhakar Mandal
INTRODUCTION: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome. METHOLOGY: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India...
September 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28923585/the-genetics-of-congenital-aniridia-a-guide-for-the-ophthalmologist
#18
Erlend S Landsend, Øygunn A Utheim, Hilde R Pedersen, Neil Lagali, Rigmor C Baraas, Tor P Utheim
Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and macula. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated nonocular features of the disease are also being recognized...
January 2018: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28906020/diagnostic-impact-of-anterior-segment-angiography-of-limbal-stem-cell-insufficiency-in-pax6-related-aniridia
#19
Barbara Käsmann-Kellner, Lorenz Latta, Fabian Fries, Arne Viestenz, Berthold Seitz
BACKGROUND: PAX6 is a master gene of ocular development and postnatal ocular equilibrium. Congenital aniridia is the hallmark of PAX6 gene haploinsufficiency (Chr. 11 p. 13), but PAX6-associated aniridia is a profound, progressive pan-ocular developmental disorder often leading to blindness. Limbal stem cell insufficiency and corneal findings in PAX6 syndrome: There is congenital visual impairment with advancing loss of vision mainly due to secondary glaucoma and to corneal blindness caused by limbal stem cell insufficiency (LSCI)...
September 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28859078/the-wagr-syndrome-gene-prrg4-is-a-functional-homologue-of-the-commissureless-axon-guidance-gene
#20
Elizabeth D Justice, Sarah J Barnum, Thomas Kidd
WAGR syndrome is characterized by Wilm's tumor, aniridia, genitourinary abnormalities and intellectual disabilities. WAGR is caused by a chromosomal deletion that includes the PAX6, WT1 and PRRG4 genes. PRRG4 is proposed to contribute to the autistic symptoms of WAGR syndrome, but the molecular function of PRRG4 genes remains unknown. The Drosophila commissureless (comm) gene encodes a short transmembrane protein characterized by PY motifs, features that are shared by the PRRG4 protein. Comm intercepts the Robo axon guidance receptor in the ER/Golgi and targets Robo for degradation, allowing commissural axons to cross the CNS midline...
August 2017: PLoS Genetics
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