Scientific literature

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In this section we offer references to academic monographic studies and to medical articles already published in scientific journals, listed in reverse chronological order.
When available, you will also find the abstract and/or the link to the original articles.
Please consider that this list is not intended to be exhaustive.

The effect of glaucoma treatment on aniridia-associated keratopathy (AAK) – A report from the Homburg Register for Congenital Aniridia

Fabian Norbert Fries, Annamária Náray, Cristian Munteanu, Tanja Stachon, Neil Lagali, Berthold Seitz, Barbara Käsmann-Kellner, Nóra Szentmáry

CC BY 4.0 · Klin Monbl Augenheilkd, 18 October 2023, DOI: 10.1055/a-2194-1580

Visual Acuity in Aniridia and WAGR Syndrome

Michael A Krause, Kelly L Trout, James D Lauderdale, Peter A Netland
Clinical Ophthalmoloy, 1 May 2023 Volume 2023:17 Pages 1255—1261

Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches

Alejandra Daruich, Melinda Duncan, Matthieu P. Robert, Neil Lagali, Elena V. Semina, Daniel Aberdam, Stefano Ferrari, Vito Romano, Cyril Burin des Roziers, Rabia Benkortebi, Nathalie De Vergnes, Michel Polak, Frederic Chiambaretta, Ken K. Nischal, Francine Behar-Cohen, Sophie Valleix, Dominique Bremond-Gignac
Progress in Retinal and Eye Research, Available online 22 October 2022, 101133

Corneal transplantation in aniridia-related keratopathy with a two-year follow-up period, an uncommon disease with precarious course

Andreas Viberg, André Vicente, Branka Samolov, Jesper Hjortdal, Berit Byström
Acta Ophthalmologica, 9 August 2022

Aniridic Fibrosis Syndrome

Majid Moshirfar, Jordan Hastings, Yasmyne Ronquillo
Copyright © 2022, StatPearls Publishing LLC
Last Update: July 2, 2022

The antipsychotropic drug Duloxetine rescues PAX6 haploinsufficiency of mutant limbal stem cells through inhibition of the MEK/ERK signaling pathway

Orly Dorot, Lauriane N. Roux, Léa Zennaro, Keren Oved, Dominique Bremond-Gignac, Edward Pichinuk, Daniel Aberdam
Ocul Surf. 2021 Dec 8;23:140-142 PMID: 34890804

Ritanserin, a potent serotonin 2A receptor antagonist, represses MEK/ERK signalling pathway to restore PAX6 production and function in aniridia-like cellular model

Keren Oved, Léa Zennaro, Orly Dorot, Johanna Zerbib, Elie Frank, Lauriane N Roux, Dominique Bremond-Gignac, Edward Pichinuk, Daniel Aberdam
Biochem Biophys Res Commun. 2021 Dec 10;582:100-104.

Macular involvement in congenital aniridia / Alteraciones maculares en aniridia congénita

P Casas-Llera, D Ruiz-Casas, J L Alió
Archivos de la Sociedad Española de Oftalmología, Volume 96, Supplement 1, November 2021, Pages 60-67

Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions

Latta L, Figueiredo FC, Ashery-Padan R, Collinson JM, Daniels J, Ferrari S, Szentmáry N, Solá S, Shalom-Feuerstein R, Lako M, Xapelli S, Aberdam D, Lagali N.
Ocul Surf. 2021 Oct;22:245-266

Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia

Alexandra Y. Filatova, Tatyana A. Vasilyeva, Andrey V. Marakhonov, Natella V. Sukhanova, Anna A. Voskresenskaya, Rena A. Zinchenko, Mikhail Y. Skoblov
Hum Mutat. 2021 Aug;42(8):1053-1065. Epub 2021 Jul 5.

Analysis of genotype-phenotype correlations in PAX6-associated aniridia

Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Käsmann-Kellner B, Sukhanova NV, Katargina LA, Kutsev SI, Zinchenko RA.
J Med Genet. 2021 Apr;58(4):270-274. Epub 2020 May 28. PMID: 32467297

Morphometric analysis of the lens in human aniridia and mouse Small eye

Voskresenskaya A, Pozdeyeva N, Batkov Y, Vasilyeva T, Marakhonov A, West RA, Caplan JL, Cvekl A, Wang Y, Duncan MK.
Exp Eye Res. 2021 Feb;203:108371. doi: 10.1016/j.exer.2020.108371. Epub 2020 Nov 26. PMID: 33248069; PMCID: PMC7867623.

Formulation and Stability of Ataluren Eye Drop Oily Solution for Aniridia

Djayet C, Bremond-Gignac D, Touchard J, Secretan PH, Vidal F, Robert MP, Daruich A, Cisternino S, Schlatter J.
Pharmaceutics. 2020 Dec 22;13(1):E7.
PMID: 33375041.

Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice

Behnam Rabiee, Khandaker N. Anwar, Xiang Shen, Ilham Putra, Mingna Liu, Rebecca Jung, Neda Afsharkhamseh, Mark I. Rosenblatt, Gerald A. Fishman, Xiaorong Liu, Mahmood Ghassemi, Ali R. Djalilian
Science Translational Medicine 09 Dec 2020 Vol. 12, Issue 573, eaaz4894

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

Vasilyeva TA, Marakhonov AV, Minzhenkova ME, Markova ZG, Petrova NV, Sukhanova NV, Koshkin PA, Pyankov DV, Kanivets IV, Korostelev SA, Krynskaya IA, Shilova NV, Kutsev SI, Kadyshev VV, Zinchenko RA.
BMC Med Genomics. 2020 Sep 18;13(Suppl 8):130. doi: 10.1186/s12920-020-00790-1. PMID: 32948199; PMCID: PMC7499969.

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome

Vasilyeva TA, Marakhonov AV, Sukhanova NV, Kutsev SI, Zinchenko RA.
Genes (Basel). 2020 Jul 17;11(7):812. doi: 10.3390/genes11070812. PMID: 32708836; PMCID: PMC7397088.

Global and age-related neuroanatomical abnormalities in a Pax6-deficient mouse model of aniridia suggests a role for Pax6 in adult structural neuroplasticity

Madison K.Grant, Anastasia M.Bobilev, Ashley M.Rasys, J.Branson Byers, Hannah C. Schriever, Khan Hekmatyar, James D.Lauderdale
Brain Research Volume 1732, 1 April 2020, 146698

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations

Lagali N, Wowra B, Fries FN, Latta L, Moslemani K, Utheim TP, Wylegala E, Seitz B, Käsmann-Kellner B
Ocul Surf. 2020 Jan;18(1):130-140. doi: 10.1016/j.jtos.2019.11.002. Epub 2019 Nov 14.

Aniridia with PAX6 mutations and narcolepsy

Berntsson SG, Kristoffersson A, Daniilidou M, Dahl N, Ekström C, Semnic R, Markström A, Niemelä V, Partinen M, Hallböök F, Landtblom AM
J Sleep Res. 2020 Jan 14:e12982. doi: 10.1111/jsr.12982.

LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome

Marakhonov AV, Vasilyeva TA, Voskresenskaya AA, Sukhanova NV, Kadyshev VV, Kutsev SI, Zinchenko RA.
Hum Mol Genet. 2019 Oct 1;28(19):3323-3326. doi: 10.1093/hmg/ddz168. PMID: 31304537.

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

by Dulce Lima Cunha, Gavin Arno, Marta Corton and Mariya Moosajee
Genes 2019, 10(12), 1050;

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay

Filatova AY, Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Zinchenko RA, Skoblov MY.
Eur J Hum Genet. 2019 Mar;27(3):488-493. doi: 10.1038/s41431-018-0288-y. Epub 2018 Oct 12. PMID: 30315214; PMCID: PMC6460560.

Modeling of Aniridia-Related Keratopathy by CRISPR/Cas9 Genome Editing of Human Limbal Epithelial Cells and Rescue by Recombinant PAX6 Protein

Lauriane N. Roux, Isabelle Petit, Romain Domart, Jean-Paul Concordet, Jieqiong Qu, Huiqing Zhou, Alain Joliot, Olivier Ferrigno, Daniel Aberdam
Stem Cells, Volume 36, Issue 9, September 2018, Pages 1421–1429

The genetics of congenital aniridia – a guide for the ophthalmologist

Erlend S. Landsend, Øygunn A. Utheim, Hilde R. Pedersen, Neil Lagali, Rigmor C. Baraas, Tor P. Utheim
Surv Ophthalmol. 2018 Jan – Feb;63(1):105-113. doi: 10.1016/j.survophthal.2017.09.004. Epub 2017 Sep 18.

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

Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA.
Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2. PMID: 28321846.

Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy

Voskresenskaya A, Pozdeyeva N, Vasilyeva T, Batkov Y, Shipunov A, Gagloev B, Zinchenko R.
Ocul Surf. 2017 Oct;15(4):759-769. doi: 10.1016/j.jtos.2017.07.001. Epub 2017 Jul 8. PMID: 28698011.

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

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, et al.
Published: February 23, 2017  PLoS ONE 12(2): e0172363.

A CGH array procedure to detect PAX6 gene structural defects

Franzoni A, Dello Russo P, Baldan F, D’Elia AV, Puppin C, Penco S, Damante G
Mol Cell Probes. 2016 Dec 2. PII: S0890-8508(16)30117-7. DOI: 10.1016/j.mcp.2016.12.001

Book coverAniridia: Recent Developments in Scientific and Clinical Research, Springer International 2015.

Editors: Stefano Ferrari, Mohit Parekh, Barbara Poli, Diego Ponzin, Corrado Teofili
ISBN-13: 978-3319197784 – ISBN-10: 3319197789
Table of Contents (pdf)

Aniridia Guides and Aniridia-Syndrome (PAX6-Syndrome)

B. Käsmann-Kellner, A. Viestenz, B. Seitz
Редакция | 2015, PM Ophthalmology. Part 1. Aniridia, Practical medicine 02 (15) Ophthalmology. Part 1 | Апрель 17, 2015


Melanie Hingorani, MA, MBBS, MD, FRCOphth and Anthony Moore, MA, MBBS, FRCS, FRCOphth.
Initial Posting: May 20, 2003; Last Update: November 14, 2013.


Hingorani M, Hanson I, van Heyningen V.
Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13.

Ocular and systemic findings in a survey of aniridia subjects

Netland PA, Scott ML, Boyle JW 4th, Lauderdale JD.
J AAPOS. 2011 Dec;15(6):562-6. doi: 10.1016/j.jaapos.2011.07.009.

Autologous Serum Eyedrops in the Treatment of Aniridic Keratopathy

J. S. López-García, MD, PhD, L. Rivas, PhD, I. García-Lozano, MD, J. Murube, MD, PhD
Ophthalmology 2008;115:262–267 © 2008 by the American Academy of Ophthalmology

Epidemiology of aniridia in Sweden and Norway

Ulla Eden, C. Beijar, R.Riise and K.Tornqvist
Acta Ophtalmologica, vol. 86, issue 7, pages 727–729, November 2008 © 2008 The Authors

Aniridia among children and teenagers in Sweden and Norway

Ulla Eden, C. Beijar, R.Riise and K.Tornqvist
Acta Ophtalmologica, vol. 86, issue 7, pages 730–734, November 2008 © 2008 The Authors

Long-term visual prognosis of corneal and ocular surface surgery in patients with congenital aniridia

María Fideliz de la Paz, Juan Alvarez de Toledo, Rafael Ignacio Barraquer, Joaquín Barraquer
Acta Ophtalmologica, vol. 86, issue 7, pages 735–740, November 2008 © 2008 The Authors

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM.
Arch Pediatr Adolesc Med. 2007 May;161(5):463-9