Abstract
Aniridia is a rare, sight-threatening disorder that affects the iris, retina, optic nerve, lens, and cornea. Aniridia most often occurs as an isolated ocular abnormality without obvious systemic involvement, but may also be part of certain syndromes. Absence or hypoplasia of the iris and foveal hypoplasia are characteristic features that present from birth in patients with aniridia, usually resulting in photophobia, reduced visual acuity (normally 20/100–20/200) and nystagmus. Cataract, glaucoma, and aniridickeratopathy are frequently associated progressive ocular disorders with typically later onset. The prevalence of aniridia is about 1:80,000 with no known race or gender effect [1]. Approximately two-thirds of cases are inherited in an autosomal dominant fashion and one-third are sporadic. Aniridia is associated with PAX6 gene mutations. There is considerable phenotypic heterogeneity, but usually little difference between the two eyes.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L (1984) Aniridia. A review. Surv Ophthalmol 28:621–642
Thomas S, Thomas MG, Andrews C et al (2014) Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. Eur J Hum Genet EJHG 22:344–349
Nishida K, Kinoshita S, Ohashi Y, Kuwayama Y, Yamamoto S (1995) Ocular surface abnormalities in aniridia. Am J Ophthalmol 120:368–375
Hingorani M, Hanson I, van Heyningen V (2012) Aniridia. Eur J Hum Genet EJHG 20:1011–1017
Eden U, Lagali N, Dellby A et al (2014) Cataract development in Norwegian patients with congenital aniridia. Acta Ophthalmol 92:e165–e167
Netland PA, Scott ML, Boyle JW, Laudedale JD (2011) Ocular and systemic findings in a survey of aniridia subjects. J AAPOS Off Publ Am Assoc Pediatr Ophthalmol Strabismus Am Assoc Pediatr Ophthalmol Strabismus 15:562–566
Hingorani M, Williamson KA, Moore AT, van Heyningen V (2009) Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci 50:2581–2590
Rivas L, Murube J, Rivas A, Murube E (2003) Impression cytology study of dry eyes in patients with congenital aniridia. Arch Soc Esp Oftalmol 78:615–622
Jastaneiah S, Al-Rajhi AA (2005) Association of aniridia and dry eyes. Ophthalmology 112:1535–1540
Sisodiya SM, Free SL, Williamson KA et al (2001) PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet 28:214–216
Bamiou DE, Free SL, Sisodiya SM et al (2007) Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. Arch Pediatr Adolesc Med 161:463–469
Gregory-Evans CY, Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K (2014) Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest 124:111–116
Tsai JH, Freeman JM, Chan CC et al (2005) A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia. Am J Ophthalmol 140:1075–1079
Holland EJ, Djalilian AR, Schwartz GS (2003) Management of aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique. Ophthalmology 110:125–130
Shortt AJ, Bunce C, Levis HJ et al (2014) Three-year outcomes of cultured limbal epithelial allografts in aniridia and Stevens-Johnson syndrome evaluated using the Clinical Outcome Assessment in Surgical Trials assessment tool. Stem Cells Trans Med 3:265–275
Utheim TP (2013) Limbal epithelial cell therapy: past, present, and future. Methods Mol Biology (Clifton NJ) 1014:3–43
Utheim TP, Lyberg T, Raeder S (2013) The culture of limbal epithelial cells. Methods Mol Biology (Clifton NJ) 1014:103–129
Jenkins C, Tuft S, Liu C, Buckley R (1933) Limbal transplantation in the management of chronic contact-lens-associated epitheliopathy. Eye (Lond) 7(Pt 5):629–633
Espana EM, Di Pascuale M, Grueterich M, Solomon A, Tseng SC (2004) Keratolimbal allograft in corneal reconstruction. Eye (Lond) 18:406–417
Burillon C, Huot L, Justin V et al (2012) Cultured autologous oral mucosal epithelial cell sheet (CAOMECS) transplantation for the treatment of corneal limbal epithelial stem cell deficiency. Invest Ophthalmol Vis Sci 53:1325–1331
Sotozono C, Inatomi T, Nakamura T et al (2013) Visual improvement after cultivated oral mucosal epithelial transplantation. Ophthalmology 120:193–200
Conflict of Interest
Tor Paaske Utheim is co-founder of the Norwegian Dry Eye Clinic, Oslo, Norway. The clinic is sponsored by Abbott Medical Optics, Abigo, Alcon, Allergan, BolPharma, Santen, TearScience, and Thea Laboratories. Utheim also holds patent applications on storage of cultured epithelial cells for treating limbal stem cell deficiency and age-related macular degeneration.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Utheim, T.P. (2015). Future Avenues of Research in Aniridia. In: Parekh, M., Poli, B., Ferrari, S., Teofili, C., Ponzin, D. (eds) Aniridia. Springer, Cham. https://doi.org/10.1007/978-3-319-19779-1_19
Download citation
DOI: https://doi.org/10.1007/978-3-319-19779-1_19
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-19778-4
Online ISBN: 978-3-319-19779-1
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)