A new case of keratoconus associated with Williams-Beuren syndrome.
Ophthalmic Genet
; 34(3): 174-7, 2013 Sep.
Article
em En
| MEDLINE
| ID: mdl-23167938
ABSTRACT
BACKGROUND:
Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome.PURPOSE:
To report a new patient with keratoconus and Williams-Beuren syndrome.DISCUSSION:
This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 7
/
Elastina
/
Deleção de Genes
/
Síndrome de Williams
/
Quinases Lim
/
Ceratocone
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Ophthalmic Genet
Assunto da revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Brasil