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Aniridia: Recent Developments in Scientific and Clinical Research

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The aim of this book is to highlight the latest findings in Aniridia research. Aniridia, meaning “without iris”, is a rare genetic disorder affecting vision, characterized by the incomplete formation of the iris (the coloured part of the eye that surrounds the black pupil). It may also cause other segments of the eye to be under-developed such as the optic nerve and the macula (the central part of the retina). Aniridia and associated conditions affect individuals differently. So while some affected people are partially sighted or blind, others may have near normal sight. Aniridia is congenital (present at birth) and is caused by a dysfunction of the PAX6 gene, situated on the 11th chromosome that causes the premature cessation of eye development. Aniridia affects between 1:40,000 to 1:100,000 people, and affects males and females equally. People with Aniridia may also experience secondary conditions such as Photophobia, Nystagmus, Glaucoma, Cataracts and Keratopathy.

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Detail Information

Series Title

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Call Number

574.87 ANI a

Publisher

Cham, Switzerland : Springer Cham., 2015

Collation

VIII, 192

Language

English

ISBN/ISSN

978-3-319-19779-1

Classification

574.87

Content Type

text

Media Type

computer

Carrier Type

online resource

Edition

Ed. 1

Subject(s)

Cell Biology
Ophthalmology

Specific Detail Info

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Statement of Responsibility

Editor: Mohit Parekh...[et al.]

Other Information

Cataloger

umi

Source

https://link.springer.com/content/pdf/10.1007/978-3-319-19779-1.pdf?pdf=button

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