| Autor: |
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Viola Francesco, Garoli Elena, Colombo Leonardo, Bertelli Matteo |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
The EuroBiotech Journal, Vol 1, Iss s1, Pp 26-28 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
2564-615X |
| DOI: |
10.24190/ISSN2564-615X/2017/S1.08 |
| Popis: |
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene. The overall prevalence of CHM varies from 1 in 50 000 to 1 in 100 000. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual field, fundus autofluorescence, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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