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https://www.readbyqxmd.com/read/29663667/a-novel-splice-site-variant-in-itpr1-gene-underlying-recessive-gillespie-syndrome
#1
Leda Paganini, Chiara Pesenti, Donatella Milani, Laura Fontana, Silvia Motta, Silvia Maria Sirchia, Giulietta Scuvera, Paola Marchisio, Susanna Esposito, Claudia Maria Cinnante, Silvia Maria Tabano, Monica Rosa Miozzo
Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive ataxia, and intellectual disability. All causative variants to date affect the central or the 3'-terminal domains of ITPR1 gene and exhibit autosomal recessive or dominant inheritance pattern. We investigated by exome sequencing the molecular cause of GLSP in a family composed by consanguineous healthy parents, two affected siblings and one healthy son. We found the novel splice site variant c...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29618921/-pax6-molecular-analysis-and-genotype-phenotype-correlations-in-families-with-aniridia-from-australasia-and-southeast-asia
#2
Emmanuelle Souzeau, Adam K Rudkin, Andrew Dubowsky, Robert J Casson, James S Muecke, Erica Mancel, Mark Whiting, Richard A D Mills, Kathryn P Burdon, Jamie E Craig
Purpose: Aniridia is a congenital disorder caused by variants in the PAX6 gene. In this study, we assessed the involvement of PAX6 in patients with aniridia from Australasia and Southeast Asia. Methods: Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia, Cambodia, Sri Lanka, and Bhutan were included. The PAX6 gene was investigated for sequence variants and analyzed for deletions with multiplex ligation-dependent probe amplification...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29535249/already-19-further-reflections-on-parenting-aniridia-and-being-a-doctor
#3
Nancy Elder
The author, a family physician, reflects on raising a daughter with a rare eye disease, aniridia, and learning and memory disabilities as the daughter heads off to college.
March 2018: Journal of the American Board of Family Medicine: JABFM
https://www.readbyqxmd.com/read/29519880/meibomian-gland-dysfunction-and-keratopathy-are-associated-with-dry-eye-disease-in-aniridia
#4
Erlend Christoffer Sommer Landsend, Hilde Røgeberg Pedersen, Øygunn Aass Utheim, Jiaxin Xiao, Muhammed Yasin Adil, Behzod Tashbayev, Neil Lagali, Darlene Ann Dartt, Rigmor C Baraas, Tor Paaske Utheim
AIMS: To investigate the aetiology and characteristics of dry eye disease (DED) in a Nordic cohort of patients with congenital aniridia. METHODS: Thirty-four Norwegian and one Danish subject with congenital aniridia and 21 healthy controls were examined. All subjects underwent an extensive dry eye examination, including evaluation of meibomian glands (MGs) by meibography, measurement of tear production and tear film osmolarity and grading of vital staining of the ocular surface...
March 8, 2018: British 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
#5
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/29460221/the-genetics-of-aniridia-simple-things-become-complicated
#6
REVIEW
Anna Wawrocka, Maciej R Krawczynski
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular abnormalities. It is inherited in an autosomal dominant manner, with high penetrance and variable expression even within the same family. In most cases the disease is caused by haploinsufficiency truncating mutations in the PAX6 gene; however, in up to 30% of aniridia patients, disease results from chromosomal rearrangements at the 11p13 region. The aim of this review is to present the clinical and genetic aspects of the disease...
February 19, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29426455/bilateral-simultaneous-artificial-iris-implantation-for-post-traumatic-aniridia-a-case-report
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
Lorenz Latta, Arne Viestenz, Tanja Stachon, Sarah Colanesi, Nóra Szentmáry, Berthold Seitz, Barbara Käsmann-Kellner
Aniridia is a rare disease of the eye that affects the iris, lens and the cornea. In about 90% of the cases, patients showed a loss of PAX6 function. Patients with aniridia often develop aniridia-related keratopathy (ARK), due to limbal stem cell insufficiency. The aim of this study was to determine the differentiation status of limbal epithelial cells (LECs) in patients with ARK. Epithelial cells were isolated from the limbus region of two patients with aniridia and cultured in KSFM medium supplemented with EGF and BPE...
February 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29141386/-clinical-characteristics-and-surgical-effect-observation-of-congenital-aniridia-combined-with-cataract
#17
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
#18
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 conjunctivalization), with progression from Grade 1 occurring after the age of 20...
January 2018: Ocular Surface
https://www.readbyqxmd.com/read/29101006/corneal-abnormalities-in-congenital-aniridia-congenital-central-corneal-opacity-versus-aniridia-associated-keratopathy
#19
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
#20
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
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