Diagnosis of Inherited Retinal Diseases. / Diagnose erblicher Netzhauterkrankungen.
Klin Monbl Augenheilkd
; 238(3): 249-259, 2021 Mar.
Article
em En, De
| MEDLINE
| ID: mdl-33784788
ABSTRACT
Inherited retinal diseases are a frequent cause of severe visual impairment or blindness in children and adults of working age. Across this group of diseases, there is great variability in the degree of visual impairment, the impact on everyday life, disease progression, and the suitability to therapeutic intervention. Therefore, an early and precise diagnosis is crucial for patients and their families. Characterizing inherited retinal diseases involves a detailed medical history, clinical examination with testing of visual function, multimodal retinal imaging as well as molecular genetic testing. This may facilitate a distinction between different inherited retinal diseases, as well as a differentiation from monogenic systemic diseases with retinal involvement, and from mimicking diseases.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child
/
Humans
Idioma:
De
/
En
Ano de publicação:
2021
Tipo de documento:
Article