Get Aniridia: Recent Developments in Scientific and Clinical PDF

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

ISBN-10: 3319197789

ISBN-13: 9783319197784

ISBN-10: 3319197797

ISBN-13: 9783319197791

The goal of this ebook is to spotlight the newest findings in Aniridia examine. Aniridia, that means “without iris”, is an extraordinary genetic sickness affecting imaginative and prescient, characterised by way of the unfinished formation of the iris (the colored a part of the attention that surrounds the black pupil). it will possibly additionally reason different segments of the attention to be under-developed equivalent to the optic nerve and the macula (the vital a part of the retina). Aniridia and linked stipulations impact members in a different way. So whereas a few affected individuals are in part sighted or blind, others can have close to common sight. Aniridia is congenital (present at start) and is as a result of a disorder of the PAX6 gene, positioned 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 women and men both. individuals with Aniridia can also event secondary stipulations akin to Photophobia, Nystagmus, Glaucoma, Cataracts and Keratopathy.

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

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Nelson LB, Spaeth G, Nowinski TS, Margo CE, Jackson L (1984) Aniridia: a review. Surv Ophthalmol 28:621–642 8. Zhang X, Zhang Q, Tong Y, Dai H, Zhao X, Bai F, Xu L, Li Y (2011) Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype. Mol Vis 17:548–557 9. Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005) WAGR syndrome: a clinical review of 54 cases. Pediatrics 116(4):984–988 10. Wolf M, Zabel B, Lorenz B, Blankenagel A, Ghorbani MB, Schwenn O, Wildhardt G (1998) Molecular genetic study of the PAX6 gene in aniridia patients.

Cataract in aniridia patients commonly is well tolerated and not the main cause of low vision. Aniridia requires a medical and surgical treatment adapted from infancy to adult life. If the visual acuity is compatible with foveal aplasia and ocular surface impairment, cataract surgery must be differed until the lens opacification demonstrates to be responsible of the visual impairment. Intraocular lens with or without iris replacement can be chosen. The surgical technique and the device must be chosen according to the patient’s expectations and balance of advantage/risk of the intraocular or the device implanted due to the possible complication as increase ocular pressure, ocular surface impairment, retinal complications or anterior fibrosis syndrome.

A recent patient self-reported study brings 71 % of aniridia patients with a mean age of 25 years-old had a cataract [7]. Aniridic twins have been described with bilateral congenital cataract presenting Fig. 1 Anterior polar cataract in aniridia patient 5 Clinical and Surgical Management of Cataract in Congenital Aniridia 41 a WAGR syndrome associating Wilms tumor, Aniridia, Genitourinary malformation and mental Retardation [8]. A bilateral cataract in infancy was also described in WAGRO syndrome associating WAGR and Obesity [9].

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

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