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https://www.readbyqxmd.com/read/28990998/intermediate-term-and-long-term-outcomes-with-the-boston-type-1-keratoprosthesis-in-aniridia
#1
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
#2
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
#3
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 the retinal fovea. 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 non-ocular features of the disease are also being recognised...
September 15, 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
#4
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
#5
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
#6
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
#7
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-vivo-confocal-microscopy
#8
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...
July 8, 2017: Ocular Surface
https://www.readbyqxmd.com/read/28676040/congenital-aniridia-with-cataract-case-series
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28620705/topical-bevacizumab-treatment-in-aniridia
#13
Ruth Lapid-Gortzak, Nathalie T Y Santana, Carla P Nieuwendaal, Maarten P Mourits, Ivanka J E van der Meulen
PURPOSE: To report the results of long-term topical treatment with bevacizumab (Avastin) 5 mg/mL eyedrops in a case of aniridia-related neovacularization of the cornea. METHODS: Interventional case report. A female patient with aniridia had a decrease in the best corrected visual acuity from 0.32 to 0.02 in the OS over the course of 4 years, secondary to central corneal neovascularization and epithelial breakdown. Vision in the OD was 0.2. In 2008, at age 28, a shared decision was made to start off-label treatment with bevacizumab eyedrops 0...
June 15, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28613427/clinical-anatomy-of-the-anterior-chamber-angle-in-congenital-aniridia-and-consequences-for-trabeculotomy-cyclophotocoagulation
#14
Arne Viestenz, Berthold Seitz, Eva Deland, Miltiadis Fiorentzis, Lorenz Latta, Anja Viestenz, Barbara Käsmann-Kellner
Intraocular pressure lowering surgery in congenital aniridia glaucoma (CAG) can be complicated by dysgenesis of the limbal region, anterior chamber angle, iris, and lens. The anterior segments of 23 eyes (17 patients) with congenital aniridia were investigated under general anesthesia using ultrasound biomicroscopy (UBM). The structures of the anterior segment were examined: distance of ciliary body processes from the anterior chamber angle and positioning of Schlemm's canal. A surgical plan was created on the basis of these data...
June 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28598868/pax6-aniridia-syndrome-clinics-genetics-and-therapeutics
#15
REVIEW
Hyun Taek Lim, Dae Hee Kim, Hyuna Kim
PURPOSE OF REVIEW: Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings. RECENT FINDINGS: Aside from the ocular features, a variety of associated systemic abnormalities, including hormonal, metabolic, gastrointestinal, genitourinary, and neurologic pathologies have been reported in children with aniridia...
September 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28574137/iris-reconstruction-using-artificial-iris-prosthesis-for-management-of-aniridia
#16
Yehia S Mostafa, Amr A Osman, Dina H Hassanein, Ashraf M Zeid, Ahmed M Sherif
PURPOSE: To discuss the limitations and benefits of the BrightOcular prosthetic artificial iris device in management of aniridia associated with aphakia or cataract. METHODS: This is a retrospective study including 5 eyes of 4 patients who underwent implantation of the BrightOcular iris prosthesis (Stellar Devices) for total or partial aniridia. The cases included 2 eyes of 1 patient with congenital aniridia associated with congenital cataract and 3 eyes with traumatic aniridia: 1 with subluxated cataractous lens and 2 with aphakia...
May 27, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28549150/primary-congenital-and-developmental-glaucomas
#17
Carly J Lewis, Adam Hedberg-Buenz, Adam P DeLuca, Edwin M Stone, Wallace L M Alward, John H Fingert
Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cause of childhood blindness. Other early-onset glaucomas may arise secondary to developmental abnormalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome...
August 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#18
Marcus A Toral, Gabriel Velez, Katherine Boudreault, Kellie A Schaefer, Yu Xu, Norman Saffra, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28516188/management-of-bilateral-wilms-tumours
#19
REVIEW
Alastair J W Millar, Sharon Cox, Alan Davidson
Wilms tumour is named after Max Wilms. It is an embryonal tumour derived from the metanephros. It is the commonest childhood renal tumour and the third commonest paediatric malignancy. Synchronous bilateral Wilms tumours (BWT) represent 4-7% of all Wilms tumours (WT) and present at a younger age than unilateral Wilms tumours. At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WAGR syndrome, Denys-Drash syndrome, hemihypertrophy, or one of the other overgrowth syndromes...
July 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28510772/prevalence-incidence-and-risk-factors-for-the-development-of-glaucoma-in-patients-with-aniridia
#20
Shantha Balekudaru, Nandhini Sankaranarayanan, Sumita Agarkar
PURPOSE: To assess the prevalence, incidence, and risk factors for the development of glaucoma in patients with aniridia. METHODS: Retrospective analysis of case records of patients diagnosed as having congenital aniridia between January 1986 and December 2011 was performed. Patients with a follow-up of more than 12 months were included. RESULTS: Ninety-one patients (180 eyes) with the diagnosis of aniridia were identified from the case records...
July 1, 2017: Journal of Pediatric Ophthalmology and Strabismus
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