Works matching Aniridia

Results: 713

Aniridia after blunt trauma and presumed wound dehiscence in a pseudophakic eye.

Published in:

2016

By:

KYEONG HWAN KIM;
WAN SOO KIM

Publication type:

Case Study

Travmatik Kısmi Aniridili Bir Olguda İris Rekonstrüksiyon Lensi İmplantasyonu.

Published in:

Journal of Glaucoma-Cataract / Glokom-Katarakt, 2014, v. 9, n. 1, p. 65

By:

TOYGAR, Okan;
AKÇAY, Levent;
TOYGAR, Baha;
KIZILOĞLU, Özge YABAŞ;
HACIMUSTAFAOGLU, Ali Murat

Publication type:

Article

Chandelier retroillumination-assisted cataract surgery in two cases of congenital aniridia with severe aniridia-associated keratopathy: case series.

Published in:

Therapeutic Advances in Ophthalmology, 2024, p. 1, doi. 10.1177/25158414241302879

By:

Hu, Joseph;
Hu, Chao-Chien

Publication type:

Article

Short- and Long-term Results of Glaucoma Valve Implantation for Aniridia-related Glaucoma: A Case Series and Literature Review.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2019, v. 49, n. 4, p. 183, doi. 10.4274/tjo.galenos.2019.07348

By:

Demirok, Gülizar Soyugelen;
Ekşioğlu, Ümit;
Yakın, Mehmet;
Kaderli, Ahmet;
Kaderli, Sema Tamer;
Örnek, Firdevs

Publication type:

Article

Congenital aniridia: etiology, manifestations and management.

Published in:

Expert Review of Ophthalmology, 2016, v. 11, n. 2, p. 135, doi. 10.1586/17469899.2016.1152182

By:

Samant, Monica;
Chauhan, Bharesh K.;
Lathrop, Kira L.;
Nischal, Ken K.

Publication type:

Article

Bilateral Deep Sclerectomy with Microperforations as a Successful Secondary Procedure in Aniridia-Associated Glaucoma.

Published in:

Middle East African Journal of Ophthalmology, 2018, v. 25, n. 1, p. 52, doi. 10.4103/meajo.MEAJO_291_17

By:

AlDarrab, Abdulrahman;
Malik, Rizwan

Publication type:

Article

Rare Association of Familial Aniridia, Microcornea with Myopia and Aphakia.

Published in:

2014

By:

Biswas, Jaya;
Chakrabarti, Asim;
Das, Debabrata

Publication type:

Case Study

Bilateral Traumatic Expulsive Aniridia after Phacoemulsification.

Published in:

Middle East African Journal of Ophthalmology, 2012, v. 19, n. 3, p. 334, doi. 10.4103/0974-9233.97948

By:

Oltra, Erica Z.;
Chow, Clement C.;
Lunde, Mark W.

Publication type:

Article

Identification of a novel PAX6 mutation in a Chinese family with aniridia.

Published in:

2019

By:

Qiu, Jing-Jing;
Zhang, Qian;
Geng, Zi-xin;
Liu, Min;
Zhong, Zi-lin;
Chen, Jian-jun;
Liu, Fei

Publication type:

journal article

Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria.

Published in:

Therapeutic Advances in Ophthalmology, 2021, p. 1, doi. 10.1177/25158414211019513

By:

Ugalahi, Mary Ogbenyi;
Ibukun, Folahan Adesola;
Olusanya, Bolutife Ayokunnu;
Baiyeroju, Aderonke Mojisola

Publication type:

Article

Increased functional connectivity in intrinsic neural networks in individuals with aniridia.

Published in:

Frontiers in Human Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnhum.2014.01013

By:

Pierce, Jordan E.;
Krafft, Cynthia E.;
Rodrigue, Amanda L.;
Bobilev, Anastasia M.;
Lauderdale, James D.;
McDowell, Jennifer E.

Publication type:

Article

A Clinical and Genetic Review of Aniridia.

Published in:

Journal of Pediatrics Review, 2015, p. 1, doi. 10.17795/jpr-241

By:

Jafari, Reza;
Amiri, Ahmad Ahmadzadeh

Publication type:

Article

Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 68, doi. 10.1111/cge.12329

By:

Fernandes‐Lima, Z.S.;
Paixão‐Côrtes, V.R.;
de Andrade, A.K.M.;
Fernandes, A.S.;
Coronado, B.N.L.;
Monte Filho, H.P.;
Santos, M.J.;
de Omena Filho, R.L.;
Biondi, F.C.;
Ruiz‐Linares, A.;
Ramallo, V.;
Hünemeier, T.;
Schuler‐Faccini, L.;
Monlleó, I.L.

Publication type:

Article

Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.

Published in:

Journal of Genetics, 2018, v. 97, n. 2, p. 555, doi. 10.1007/s12041-018-0925-9

By:

Syrimis, Andreas;
Nicolaou, Nayia;
Alexandrou, Angelos;
Papaevripidou, Ioannis;
Nicolaou, Michael;
Loukianou, Eleni;
Christophidou-Anastasiadou, Violetta;
Malas, Stavros;
Sismani, Carolina;
Tanteles, George A.

Publication type:

Article

Long-term results after artificial iris implantation in patients with aniridia.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 7, p. 1419, doi. 10.1007/s00417-016-3292-3

By:

Rickmann, Annekatrin;
Szurman, Peter;
Januschowski, Kai;
Waizel, Maria;
Spitzer, Martin;
Boden, Karl;
Szurman, Gesine

Publication type:

Article

Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2013, v. 251, n. 3, p. 667, doi. 10.1007/s00417-012-2254-7

By:

Forlini, Cesare;
Forlini, Matteo;
Rejdak, Robert;
Prokopiuk, Agata;
Levkina, Oxana;
Bratu, Adriana;
Rossini, Paolo;
Cagampang, Perfecto;
Cavallini, Gian

Publication type:

Article

Descemet Stripping Endothelial Keratoplasty for Congenital Aniridia: An Interesting and Challenging Story.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2022, v. 52, n. 3, p. 208, doi. 10.4274/tjo.galenos.2022.01057

By:

Athanasiadis, Ioannis;
Tsatsos, Michael;
Ziakas, Nikolaos

Publication type:

Article

Psödofakik Hastada Künt Oküler Travmayı Takiben Gelişen Travmatik Aniridi.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2014, v. 44, n. 1, p. 80, doi. 10.4274/tjo.81567

By:

Gencer, Baran;
Kara, Selçuk;
Tufan, Hasan Ali;
Çömez, Arzu Taşkıran;
Arıkan, Sedat

Publication type:

Article

A Case Report of Familial Congenital Aniridia and Oculocutaneous Albinism with an Emphasis on Multifaceted and Multidisciplinary Patient Management.

Published in:

Optometry & Visual Performance, 2022, v. 10, n. 3, p. 139

By:

Schwalbe, Rachel;
Ross, Nicole

Publication type:

Article

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.

Published in:

Clinical & Experimental Ophthalmology, 2017, v. 45, n. 9, p. 875, doi. 10.1111/ceo.12982

By:

Pérez‐Solórzano, Sofía;
Chacón‐Camacho, Oscar F;
Astiazarán, Mirena C;
Ledesma‐Gil, Gerardo;
Zenteno, Juan Carlos

Publication type:

Article

Aniridia: A Comparative Overview.

Published in:

American Orthoptic Journal, 2014, v. 64, n. 1, p. 98, doi. 10.3368/aoj.64.1.98

By:

Schanilec, Paula;
Biernacki, Ronald

Publication type:

Article

Positive Angle Kappa: A Possible Sign of Aniridia.

Published in:

American Orthoptic Journal, 2012, v. 62, n. 1, p. 70, doi. 10.3368/aoj.62.1.70

By:

Merrill, Kimberly S.;
Summers, C. Gail

Publication type:

Article

A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation.

Published in:

2015

By:

Ping Hu;
Lulu Meng;
Dingyuan Ma;
Fengchang Qiao;
Yan Wang;
Jing Zhou;
Long Yi;
Zhengfeng Xu

Publication type:

Case Study

Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.

Published in:

Molecular Medicine Reports, 2018, v. 18, n. 5, p. 4439, doi. 10.3892/mmr.2018.9469

By:

Lin, Ying;
Gao, Hongbin;
Zhu, Yi;
Chen, Chuan;
Li, Tao;
Liu, Bingqian;
Lyu, Cancan;
Huang, Ying;
Li, Haichun;
Wu, Qingxiu;
Jin, Chenjin;
Liang, Xiaoling;
Huang, Xinhua;
Lu, Lin

Publication type:

Article

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Published in:

Molecular Medicine Reports, 2018, v. 18, n. 2, p. 1623, doi. 10.3892/mmr.2018.9126

By:

Syrimis, Andreas;
Nicolaou, Nayia;
Alexandrou, Angelos;
Papaevripidou, Ioannis;
Nicolaou, Michael;
Loukianou, Eleni;
Sismani, Carolina;
Malas, Stavros;
Christophidou-Anastasiadou, Violetta;
Tanteles, George A.

Publication type:

Article

Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 3, p. 2150, doi. 10.3892/mmr.2016.5467

By:

BOZKAYA, OZLEM GIRAY;
ATAMAN, ESRA;
KILICARSLAN, OZGE AKSEL;
CANKAYA, TUFAN;
ULGENALP, AYFER

Publication type:

Article

ANIRIDIA: A RARE MANIFESTATION OF CONGENITAL RUBELLA SYNDROME.

Published in:

2019

By:

Hussain, Ali Shabbir;
Ali, Syed Rehan;
Mohammad, Nadia;
Ali, Nabiha;
Ahmed, Shakeel;
Ahmad, Tauseef

Publication type:

Case Study

Identification of a novel frameshift mutation in gene and the clinical management in an Asian Indian aniridia family.

Published in:

2018

By:

Palayil, Isham;
Priya, S. G.;
Sivan, N. V. Sarath;
Madhivanan, Nivean;
Venkatachalam, Panneer Selvam;
Jagadeesan, Madhavan

Publication type:

journal article

Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.

Published in:

2017

By:

Woo Jin Kim;
Jong Ha Kim;
Nam Chun Cho;
Kim, Woo Jin;
Kim, Jong Ha;
Cho, Nam Chun

Publication type:

journal article

Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia.

Published in:

Indian Journal of Ophthalmology, 2014, v. 62, n. 2, p. 246, doi. 10.4103/0301-4738.128635

By:

Kothari, Mihir;
Rao, Kavita;
Moolani, Samita

Publication type:

Article

Histopathology Findings of Corneal Buttons in Congenital Aniridia Patients.

Published in:

Ophthalmic Research, 2016, v. 56, n. 4, p. 202, doi. 10.1159/000444930

By:

Bausili, Maria Montserrat;
alvarez de Toledo, Juan;
Barraquer, Rafael I.;
Michael, Ralph;
Tresserra, Francesc;
de la Paz, Maria Fideliz

Publication type:

Article

Mutation Analysis of PAX6 in a Chinese Family and a Patient with a Presumed Sporadic Case of Congenital Aniridia.

Published in:

Ophthalmic Research, 2011, v. 47, n. 1, p. 27, doi. 10.1159/000327593

By:

Luo, Fei;
Zhou, Linlin;
Ma, Xu;
He, Yan;
Zou, Liuhe;
Jie, Ying;
Liu, Jing;
Pan, Zhiqiang

Publication type:

Article

Congenital aniridia with cataract: case series.

Published in:

2017

By:

Jin Da Wang;
Jing Shang Zhang;
Ying Xiong;
Jing Li;
Xiao Xia Li;
Xue Liu;
Jing Zhao;
Tsai, Frank F.;
Vishal, Jhanji;
Qi Sheng You;
Yao Huang;
Xiu Hua Wan;
Wang, Jin Da;
Zhang, Jing Shang;
Xiong, Ying;
Li, Jing;
Li, Xiao Xia;
Liu, Xue;
Zhao, Jing;
You, Qi Sheng

Publication type:

journal article

Implication of non-coding PAX6 mutations in aniridia.

Published in:

Human Genetics, 2018, v. 137, n. 10, p. 831, doi. 10.1007/s00439-018-1940-x

By:

Plaisancié, Julie;
Tarilonte, M.;
Ramos, P.;
Jeanton-Scaramouche, C.;
Gaston, V.;
Dollfus, H.;
Aguilera, D.;
Kaplan, J.;
Fares-Taie, L.;
Blanco-Kelly, F.;
Villaverde, C.;
Francannet, C.;
Goldenberg, A.;
Arroyo, I.;
Rozet, J. M.;
Ayuso, C.;
Chassaing, N.;
Calvas, P.;
Corton, M.

Publication type:

Article

The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia.

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 5, p. e340, doi. 10.1111/aos.12923

By:

Qiu, Xiaodi;
Ji, Yinghong;
Zheng, Tianyu;
Lu, Yi

Publication type:

Article

Diadenosine polyphosphates in the tears of aniridia patients.

Published in:

Acta Ophthalmologica (1755375X), 2015, v. 93, n. 5, p. e337, doi. 10.1111/aos.12626

By:

Peral, Assumpta;
Carracedo, Gonzalo;
Pintor, Jesús

Publication type:

Article

Heterozygous PAX6 mutations may lead to hyper‐proinsulinaemia and glucose intolerance: A case–control study in families with congenital aniridia.

Published in:

Diabetic Medicine, 2021, v. 38, n. 2, p. 1, doi. 10.1111/dme.14456

By:

Tian, Wei;
Zhu, Xiao‐Rong;
Qiao, Chun‐Yan;
Ma, Ying‐Nan;
Yang, Fang‐Yuan;
Zhou, Zhen;
Feng, Jian‐Ping;
Sun, Ran;
Xie, Rong‐Rong;
Lu, Jing;
Cao, Xi;
Zhou, Jian‐Bo;
Yang, Jin‐Kui

Publication type:

Article

Silicone oil retention sutures in a patient with open ocular trauma associated with aniridia and complicated retinal detachment: a case report.

Published in:

Ophthalmology Journal (2450-7873), 2023, v. 8, p. 19, doi. 10.5603/OJ.2023.0008

By:

Rivera-Valdivia, Nicolás;
Cabal-López, Pablo;
Maeda-Yasunaga, Hiroshi;
Abdala-Caballero, Carlos

Publication type:

Article

ExPRESS Shunt Surgery for Glaucoma with Post-Traumatic Aniridia.

Published in:

Seminars in Ophthalmology, 2015, v. 30, n. 3, p. 218, doi. 10.3109/08820538.2013.835845

By:

Huerva, Valentín;
Carmen Sanchez, M.;
Jesus Muniesa, M.

Publication type:

Article

Isolated traumatic aniridia after trabeculectomy in a pseudophakic eye.

Published in:

Indian Journal of Ophthalmology, 2014, v. 62, n. 3, p. 371, doi. 10.4103/0301-4738.109515

By:

Kaliaperumal, Subashini;
Troutbeck, Robin;
Iemsomboon, Wallop;
Farinelli, Adrian

Publication type:

Article

Cryopreservation and assessment of frozen-tolerance of sperm of Lee-Sung Boars with anophthalmia or aniridia.

Published in:

Journal of the Chinese Society of Animal Science, 2019, v. 48, p. 268

By:

Tu, C. F.;
Wong, C. H.;
Chu, Y. T.;
Chie, C. H.;
Hsiao, K. S.;
Yu, P. H.;
Pan, Y. T.;
Hsiao, C.;
Hsu, C. Y.

Publication type:

Article

PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

Published in:

Clinical & Experimental Ophthalmology, 2013, v. 41, n. 9, p. 835, doi. 10.1111/ceo.12109

By:

Peter, Neena M;
Leyland, Martin;
Mudhar, Hardeep S;
Lowndes, Jo;
Owen, Katharine R;
Stewart, Helen

Publication type:

Article

Aniridia-related keratopathy: Structural changes in naïve and transplanted corneal buttons.

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198822

By:

Vicente, André;
Byström, Berit;
Lindström, Mona;
Stenevi, Ulf;
Pedrosa Domellöf, Fátima

Publication type:

Article

Congenitalis aniridia – egy spektrumbetegség magyarországi adatai.

Published in:

Hungarian Medical Journal / Orvosi Hetilap, 2023, v. 164, n. 4, p. 148, doi. 10.1556/650.2023.32697

By:

Náray, Annamária;
Csidey, Mária;
Kéki-Kovács, Klaudia;
Németh, Orsolya;
Knézy, Krisztina;
Bausz, Mária;
Szigeti, Andrea;
Csorba, Anita;
Kormányos, Kitti;
Szabó, Dorottya;
Stachon, Tanja;
Corton, Marta;
Tory, Kálmán;
Nagy, Zoltán Zsolt;
Maka, Erika;
Szentmáry, Nóra

Publication type:

Article

Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients.

Published in:

2015

By:

Dobrowolski, Dariusz;
Orzechowska-Wylegala, Boguslawa;
Wowra, Bogumil;
Wroblewska-Czajka, Ewa;
Grolik, Maria;
Szczubialka, Krzysztof;
Nowakowska, Maria;
Puzzolo, Domenico;
Wylegala, Edward A.;
Micali, Antonio;
Aragona, Pasquale

Publication type:

journal article

Identification of a Non-Stop Mutation in PAX6 Causing a Unique Presentation of Aniridia in an Iranian Family Trial.

Published in:

Acta Medica Iranica, 2018, v. 56, n. 2, p. 84

By:

Zarei-Ghanavati, Mehran;
Ghaffari, Reza;
Abedkhojasteh, Hoda;
Raoufian, Kasra;
Raoofian, Reza;
Mohebbi, Masoumehe;
Heidari, Mansour

Publication type:

Article

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 639, doi. 10.1111/cge.13019

By:

Vasilyeva, T.A.;
Voskresenskaya, A.A.;
Käsmann-Kellner, B.;
Khlebnikova, O.V.;
Pozdeyeva, N.A.;
Bayazutdinova, G.M.;
Kutsev, S.I.;
Ginter, E.K.;
Semina, E.V.;
Marakhonov, A.V.;
Zinchenko, R.A.

Publication type:

Article

Assessment of PAX6 alleles in 66 families with aniridia.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 669, doi. 10.1111/cge.12708

By:

Bobilev, A.M.;
McDougal, M.E.;
Taylor, W.L.;
Geisert, E.E.;
Netland, P.A.;
Lauderdale, J.D.

Publication type:

Article

Black diaphragm intraocular lens implantation in patients with aniridia.

Published in:

Journal of Ophthalmic & Vision Research, 2019, v. 14, n. 1, p. 27, doi. 10.4103/jovr.jovr_244_17

By:

Al-Rashidi, Sultan

Publication type:

Article

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172363

By:

Blanco-Kelly, Fiona;
Palomares, María;
Vallespín, Elena;
Villaverde, Cristina;
Martín-Arenas, Rubén;
Vélez-Monsalve, Camilo;
Lorda-Sánchez, Isabel;
Nevado, Julián;
Trujillo-Tiebas, María José;
Lapunzina, Pablo;
Ayuso, Carmen;
Corton, Marta

Publication type:

Article