Scientific literature

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.

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

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.

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;

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.

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

Aniridia: 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