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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 target of this booklet is to focus on the newest findings in Aniridia study. Aniridia, which means “without iris”, is a unprecedented genetic sickness affecting imaginative and prescient, characterised via the unfinished formation of the iris (the colored a part of the attention that surrounds the black pupil). it might probably additionally reason different segments of the attention to be under-developed reminiscent of the optic nerve and the macula (the valuable a part of the retina). Aniridia and linked stipulations have an effect on members in a different way. So whereas a few affected individuals are partly sighted or blind, others could have close to common sight. Aniridia is congenital (present at delivery) and is as a result of a disorder of the PAX6 gene, located at the eleventh chromosome that motives 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 event secondary stipulations akin to Photophobia, Nystagmus, Glaucoma, Cataracts and Keratopathy.

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Aniridia: Recent Developments in Scientific and Clinical Research

The purpose of this publication is to focus on the newest findings in Aniridia study. Aniridia, which means “without iris”, is a unprecedented genetic ailment 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 well additionally reason different segments of the attention to be under-developed reminiscent of the optic nerve and the macula (the relevant a part of the retina).

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

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In some instances, trabeculectomy may be combined with trabeculotomy [24]. This is a more common procedure in areas, such as India and the Middle East, where initial trabeculotomy alone is not as successful. Also, in older children, trabeculotomy may be combined with trabeculectomy, if the surgeon feels that a combined technique will give a better chance of success. Glaucoma Drainage Implants Many clinicians prefer glaucoma drainage implants for primary glaucoma surgery in aniridia patients, with long-term ocular surface problems and pro-fibrotic tendencies that may threaten long-term success of conventional filtration surgery.

Careful drawings are very helpful, and also photographs can be taken of the optic nerve to provide a baseline for future comparisons. Whenever possible, retinal nerve fiber layer thickness should be assessed by optical coherence tomography (OCT). Optic nerve cupping occurs much more quickly and at lower pressures in children, as 4 Management of Glaucoma in Congenital Aniridia 31 compared to adults. Similarly, in children, a decrease in cupping can occur within hours or days after control of intraocular pressure.

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.

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