Aniridia: Recent Developments in Scientific and Clinical by Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado

By Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin

The purpose of this ebook is to focus on the most recent findings in Aniridia learn. Aniridia, which means “without iris”, is an extraordinary genetic disease affecting imaginative and prescient, characterised by means of the unfinished formation of the iris (the colored a part of the attention that surrounds the black pupil). it may possibly additionally reason different segments of the attention to be under-developed similar to the optic nerve and the macula (the primary a part of the retina). Aniridia and linked stipulations impact contributors otherwise. So whereas a few affected individuals are partly sighted or blind, others can have close to basic sight. Aniridia is congenital (present at start) and is as a result of a disorder of the PAX6 gene, located at the eleventh chromosome that reasons the untimely cessation of eye improvement. Aniridia impacts among 1:40,000 to 1:100,000 humans, and impacts men and women both. individuals with Aniridia can also adventure secondary stipulations equivalent to Photophobia, Nystagmus, Glaucoma, Cataracts and Keratopathy.

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Extra resources for Aniridia: Recent Developments in Scientific and Clinical Research

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Baulmanna DC, Ohlmanna A, Flugel-Kocha C, Goswamib S, Cveklb A, Tamm ER (2002) Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities. Mech Dev 118:3–17 5. Grant WM, Walton DS (1974) Progressive changes in the angle in congenital aniridia, with development of glaucoma. Am J Ophthalmol 78:842–847 6. Okamoto F, Nakano S, Okamoto C, Hommura S, Oshika T (2004) Ultrasound biomicroscopic findings in aniridia.

2-p14 deletion. Eur J Hum Genet 13:409–413 10. Jastaneiah S, AL-Rajhi AA (2005) Association of aniridia and dry eyes. Ophthalmology 112(9):1535–1540 11. Brandt JD, Casuso LA, Budenz DL (2004) Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia. Am J Ophthalmol 137:348–350 12. Schneider S, Osher RH, Burk SE, Lutz TB, Montione R (2003) Thinning of the anterior capsule associated with congenital aniridia. J Cataract Refract Surg 29(3):523–525 13. Tsai JH, Freeman JM, Chan CC, Schwartz GS, Derby EA, Petersen MR, Holland EJ (2005) A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia.

The majority of patients were treated surgically for glaucoma. Average central corneal thickness is increased in aniridia, which may be a consideration for assessment of intraocular pressure. Although surgical procedures vary, clinicians often use glaucoma drainage implants to treat aniridic glaucoma. Regular monitoring during childhood, with prompt recognition of elevated intraocular pressure and effective management, may prevent vision loss due to glaucoma in aniridia. Keywords Aniridia • Glaucoma • Goniotomy • Trabeculotomy • Trabeculectomy • Glaucoma drainage implants • Cyclophotocoagulation Introduction Glaucoma is a potentially vision-threatening problem that is commonly encountered in aniridia patients.

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