| Title |
Axenfeld-Rieger syndrome: new perspectives
|
|---|---|
| Published in |
British Journal of Ophthalmology, December 2011
|
| DOI | 10.1136/bjophthalmol-2011-300801 |
| Pubmed ID | |
| Authors | |
| Abstract |
Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. In the eye, this condition manifests with varying degrees of anterior segment dysgenesis and carries a high risk of glaucoma. Other associated systemic issues include cardiovascular outflow tract malformations, craniofacial abnormalities and pituitary abnormalities, which can result in severe endocrinological sequelae. Recent advances in molecular genetics have identified two major genes, PITX2 and FOXC1, demonstrating a wide spectrum of mutations, which aids in the molecular diagnosis of the disease, although evidence exists to implicate other loci in this condition. The management of individuals affected by Axenfeld-Rieger syndrome requires a multidisciplinary approach and would include dedicated surveillance and management of glaucoma, sensorineural hearing loss, and cardiac, endocrinological, craniofacial and orthopaedic abnormalities. |
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X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 84 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 10 | 12% |
| Student > Master | 10 | 12% |
| Student > Ph. D. Student | 9 | 11% |
| Student > Doctoral Student | 8 | 10% |
| Researcher | 8 | 10% |
| Other | 16 | 19% |
| Unknown | 23 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 29 | 35% |
| Biochemistry, Genetics and Molecular Biology | 11 | 13% |
| Agricultural and Biological Sciences | 8 | 10% |
| Nursing and Health Professions | 2 | 2% |
| Computer Science | 2 | 2% |
| Other | 6 | 7% |
| Unknown | 26 | 31% |