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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
#1
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
#2
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
#3
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
#4
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 acuity among eyes with congenital aniridia. DESIGN: Retrospective, interventional case series. SUBJECTS: All patients undergoing B-KPro type 1 surgery between Oct...
June 26, 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
#5
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
#6
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
#7
Arne Viestenz, Berthold Seitz, Eva Deland, Miltiadis Fiorentzis, Lorenz Latta, Anja Viestenz, Barbara Käsmann-Kellner
INTRODUCTION: Intraocular pressure (IOP) lowering surgery in congenital aniridia glaucoma (CAG) can be complicated by dysgenesis of the limbal region, anterior chamber angle, iris and lens. METHODS: 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...
June 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28598868/pax6-aniridia-syndrome-clinics-genetics-and-therapeutics
#8
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 disorders have been reported in children with aniridia...
June 8, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28574137/iris-reconstruction-using-artificial-iris-prosthesis-for-management-of-aniridia
#9
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
#10
Carly 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...
May 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#11
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
#12
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...
May 17, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28510772/prevalence-incidence-and-risk-factors-for-the-development-of-glaucoma-in-patients-with-aniridia
#13
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...
May 15, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28488383/pax6-allelic-heterogeneity-in-mexican-congenital-aniridia-patients-expanding-the-mutational-spectrum-with-seven-novel-pathogenic-variants
#14
Sofía Pérez-Solórzano, Oscar F Chacón-Camacho, Mirena C Astiazarán, Gerardo Ledesma-Gil, Juan Carlos Zenteno
IMPORTANCE: The importance of the study was to describe the clinical characteristics and mutational analysis of Mexican patients with aniridia. BACKGROUND: Aniridia is a panocular hereditary eye disease caused by mutations in the PAX6 transcription factor. Mutation detection rate is highly variable ranging from 30% to 90% in different populations. Very few studies have been published about the PAX6 mutational analysis in aniridia patients from Mexico. In order to establish a more representative PAX6 mutational frequency in the country, a cohort of 22 Mexican unrelated aniridia probands were analysed in this study...
May 9, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28448293/trabeculectomy-or-transscleral-cyclophotocoagulation-as-initial-treatment-of-secondary-childhood-glaucoma-in-northern-tanzania
#15
Achim Fieß, Peter Shah, Freda Sii, Furahini Godfrey, Joe Abbott, Richard Bowman, Jacqueline Bauer, Stefan Dithmar, Heiko Philippin
PURPOSE: The purpose is to describe the outcome of trabeculectomy with transscleral cyclophotocoagulation (TSCPC) as an initial intervention for secondary childhood glaucoma in Northern Tanzania. METHODS: A retrospective, consecutive case series was analyzed of all children with secondary childhood glaucoma who underwent initial trabeculectomy or TSCPC between 2000 and 2013 at a referral eye unit in Northern Tanzania. Retrospective data were collected on causes of glaucoma, intraocular pressure (IOP), visual acuity, complications, and subsequent interventions...
July 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28398607/wagr-syndrome-and-congenital-hypothyroidism-in-a-child-with-a-mosaic-11p13-deletion
#16
Minh Tuan Huynh, Elise Boudry-Labis, Bénédicte Duban, Joris Andrieux, Cong Toai Tran, Heidi Tampere, Delphine Ceraso, Sylvie Manouvrier, Gérard Tachdjian, Catherine Roche-Lestienne, Catherine Vincent-Delorme
Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1. We report novel findings in a 28-month-old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5.28 Mb interstitial deletion of chromosome 11p13 deleting PAX6 and WT1. In order to clarify the mechanism underlying his thyroid dysgenesis, sequence analysis of candidate thyroid developmental genes was performed...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28321846/molecular-analysis-of-patients-with-aniridia-in-russian-federation-broadens-the-spectrum-of-pax6-mutations
#17
Tatyana A Vasilyeva, Anna A Voskresenskaya, Barbara Käsmann-Kellner, Olga V Khlebnikova, Nadezhda A Pozdeyeva, Gulnara M Bayazutdinova, Sergey I Kutsev, Evgeny K Ginter, Elena V Semina, Andrey V Marakhonov, Rena A Zinchenko
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 patients were diagnosed with congenital aniridia and 7 with WAGR syndrome. The clinical presentation in aniridia patients varied from the complete bilateral absence of the iris (75...
March 21, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28300742/newly-identified-paired-box-6-mutation-of-variant-familial-aniridia-congenital-iris-ectropion-with-foveal-hypoplasia
#18
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/28263264/value-of-intravitreal-gas-injection-with-ahmed-valve-implantation-in-the-prevention-of-suprachoroidal-hemorrhage-in-aphakic-aniridic-and-vitrectomized-glaucomatous-eyes-a-pilot-study
#19
Heba M A El-Saied, Abdussalam M Adullatif
PURPOSE: The aim of this study was to assess the value of intravitreal injection of nonexpansile C3F8 12% in the prevention of suprachoroidal hemorrhage (SCH) after Ahmed valve implantation for the treatment of secondary glaucoma in vitrectomized, aphakic, and aniridic eyes following blunt trauma. PATIENTS AND METHODS: This is a case series of 5 patients who presented with traumatic secondary glaucoma in vitrectomized, aphakic, and aniridic eyes. Vitrectomy was performed in all eyes after trauma for the treatment of the vitreous hemorrhage...
June 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28250050/a-novel-mouse-model-of-anterior-segment-dysgenesis-asd-conditional-deletion-of-tsc1-disrupts-ciliary-body-and-iris-development
#20
Anna-Carin Hägglund, Iwan Jones, Leif Carlsson
Development of the cornea, lens, ciliary body and iris within the anterior segment of the eye involves coordinated interaction between cells originating from the ciliary margin of the optic cup, the overlying periocular mesenchyme and the lens epithelium. Anterior segment dysgenesis (ASD) encompasses a spectrum of developmental syndromes that affect these anterior segment tissues. ASD conditions arise as a result of dominantly inherited genetic mutations and result in both ocular-specific and systemic forms of dysgenesis that are best exemplified by aniridia and Axenfeld-Rieger syndrome, respectively...
March 1, 2017: Disease Models & Mechanisms
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