Diagnosis of Inherited Retinal Diseases
Standard
Diagnosis of Inherited Retinal Diseases. / Birtel, Johannes; Yusuf, Imran H; Priglinger, Claudia; Rudolph, Günter; Charbel Issa, Peter.
in: KLIN MONATSBL AUGENH, Jahrgang 238, Nr. 3, 03.2021, S. 249-259.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Diagnosis of Inherited Retinal Diseases
AU - Birtel, Johannes
AU - Yusuf, Imran H
AU - Priglinger, Claudia
AU - Rudolph, Günter
AU - Charbel Issa, Peter
N1 - Thieme. All rights reserved.
PY - 2021/3
Y1 - 2021/3
N2 - 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.
AB - 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.
KW - Adult
KW - Blindness
KW - Child
KW - Humans
KW - Retina
KW - Retinal Diseases/diagnosis
KW - Vision Disorders
KW - Vision, Low
U2 - 10.1055/a-1388-7236
DO - 10.1055/a-1388-7236
M3 - SCORING: Journal article
C2 - 33784788
VL - 238
SP - 249
EP - 259
JO - KLIN MONATSBL AUGENH
JF - KLIN MONATSBL AUGENH
SN - 0023-2165
IS - 3
ER -
