Title |
The genetics of congenital aniridia—a guide for the ophthalmologist
|
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Published in |
Survey of Ophthalmology, September 2017
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DOI | 10.1016/j.survophthal.2017.09.004 |
Pubmed ID | |
Authors |
Erlend S. Landsend, Øygunn A. Utheim, Hilde R. Pedersen, Neil Lagali, Rigmor C. Baraas, Tor P. Utheim |
Abstract |
Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and the retinal fovea. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated non-ocular features of the disease are also being recognised. Over the past decades, major steps have been made in the understanding of the genetic basis of aniridia. Moreover, recent studies have prepared the ground for future treatment options based on specific mutations. Therefore, specific knowledge about genetics in aniridia has become more important than ever. We provide an overview of the field of aniridia genetics and its clinical implications. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 46 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 7 | 15% |
Student > Master | 5 | 11% |
Other | 5 | 11% |
Researcher | 3 | 7% |
Student > Postgraduate | 3 | 7% |
Other | 9 | 20% |
Unknown | 14 | 30% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 28% |
Biochemistry, Genetics and Molecular Biology | 6 | 13% |
Nursing and Health Professions | 3 | 7% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
Environmental Science | 1 | 2% |
Other | 4 | 9% |
Unknown | 18 | 39% |