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https://www.readbyqxmd.com/read/29217025/correlation-of-novel-pax6-gene-abnormalities-in-aniridia-and-clinical-presentation
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
October 31, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29061165/sustained-endocrine-profiles-of-a-girl-with-wagr-syndrome
#7
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
#8
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
#9
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
#10
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
#11
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...
September 18, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28906020/diagnostic-impact-of-anterior-segment-angiography-of-limbal-stem-cell-insufficiency-in-pax6-related-aniridia
#12
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
#13
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
https://www.readbyqxmd.com/read/28802684/-management-of-post-traumatic-aphakia-and-aniridia-retrospective-study-of-17-patients-undergoing-scleral-sutured-artificial-iris-intraocular-lens-implantation-management-of-aphakia-aniridia-with-scleral-sutured-artificial-iris-intraocular-lenses
#14
A-S Villemont, V Kocaba, H Janin-Manificat, L Abouaf, M Poli, A-S Marty, M Rabilloud, J Fleury, C Burillon
PURPOSE: To evaluate the long-term outcomes of artificial iris intraocular lenses sutured to the sclera for managing traumatic aphakia and aniridia. METHODS: All consecutive cases receiving a Morcher(®) combination implant from June 2008 to February 2016 in Edouard-Herriot Hospital (Lyon, France) were included in this single-center retrospective study. Visual acuity, subjective degree of glare, quality of life and surgical complications were evaluated. RESULTS: Seventeen eyes of 17 patients were included, among which 82% were male...
September 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28760551/experimental-assessment-of-novel-pax6-splicing-mutations-in-two-chinese-families-with-aniridia
#15
Qi Miao, Xiyuan Ping, Xiajing Tang, Li Zhang, Xin Zhang, Yalan Cheng, Xingchao Shentu
Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic defects of two Chinese families affected with aniridia, we recruited the family members and 200 ethnically matched controls. The entire exons and flanking intronic sequences of the PAX6 gene (NG_008679.1) were analyzed and effects of variants on splicing were assessed in silico and in vitro using exon trapping assay with pET01...
September 30, 2017: Gene
https://www.readbyqxmd.com/read/28698011/clinical-and-morphological-manifestations-of-aniridia-associated-keratopathy-on-anterior-segment-optical-coherence-tomography-and-in%C3%A2-vivo-confocal-microscopy
#16
Anna Voskresenskaya, Nadezhda Pozdeyeva, Tatyana Vasilyeva, Yevgeniy Batkov, Aleksandr Shipunov, Boris Gagloev, Rena Zinchenko
PURPOSE: The study aimed to evaluate clinical and morphological changes in the limbal palisades of Vogt (POV) at different stages of aniridia-associated keratopathy (AAK) and to assess possible utility of anterior segment optical coherence tomography (AS-OCT) for the visualization of limbal progenitor structures as it correlates to laser scanning confocal microscopy (LSCM) data. METHODS: The study involved 32 patients (59 eyes) with congenital aniridia. AAK stage was defined based on biomicroscopy...
October 2017: Ocular Surface
https://www.readbyqxmd.com/read/28676040/congenital-aniridia-with-cataract-case-series
#17
Jin Da Wang, Jing Shang Zhang, Ying Xiong, Jing Li, Xiao Xia Li, Xue Liu, Jing Zhao, Frank F Tsai, Jhanji Vishal, Qi Sheng You, Yao Huang, Xiu Hua Wan
BACKGROUND: This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. METHODS: In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted...
July 4, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28664572/the-use-of-contact-lenses-in-low-vision-rehabilitation-optical-and-therapeutic-applications
#18
REVIEW
Stephen J Vincent
Ocular pathology that manifests at an early age has the potential to alter the vision-dependent emmetropisation mechanism, which co-ordinates ocular growth throughout childhood. The disruption of this feedback mechanism in children with congenital or early-onset visual impairment often results in the development of significant ametropia, including high levels of spherical refractive error, astigmatism and anisometropia. This review examines the use of contact lenses as a refractive correction, low vision aid and therapeutic intervention in the rehabilitation of patients with bilateral, irreversible visual loss due to congenital ocular disease...
June 29, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28662941/no-light-perception-outcomes-following-boston-keratoprosthesis-type-1-surgery
#19
Adam K Muzychuk, Georges M Durr, Julien J Shine, Marie-Claude Robert, Mona Harissi-Dagher
PURPOSE: To determine the incidence rate, principal causes, and clinical course of eyes developing no light perception (NLP) visual acuity (VA) following Boston Keratoprosthesis (B-KPro) type 1 surgery. Secondary objectives include determining the incidence rate, relative risk (RR), and survival probability with respect to NLP outcomes among eyes with congenital aniridia. DESIGN: Retrospective, interventional case series. SUBJECTS: All patients undergoing B-KPro type 1 surgery between October 2008 and June 2016 by a single surgeon at CHUM - Hôpital Notre-Dame...
September 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28624217/efficacy-of-postnatal-in%C3%A2-vivo-nonsense-suppression-therapy-in-a-pax6-mouse-model-of-aniridia
#20
Xia Wang, Kevin Gregory-Evans, Kishor M Wasan, Olena Sivak, Xianghong Shan, Cheryl Y Gregory-Evans
Nonsense mutations leading to premature stop codons are common occurring in approximately 12% of all human genetic diseases. Thus, pharmacological nonsense mutation suppression strategies would be beneficial to a large number of patients if the drugs could be targeted to the affected tissues at the appropriate time. Here, we used nonsense suppression to manipulate Pax6 dosage at different developmental times in the eye of the small eye (Pax6(Sey/+); G194X) mouse model of aniridia. Efficacy was assessed by functional assays for visual capacity, including electroretinography and optokinetic tracking (OKT), in addition to histological and biochemical studies...
June 16, 2017: Molecular Therapy. Nucleic Acids
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