Diagnosis of Inherited Retinal Diseases

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.

Key words

inherited retinal diseases - retinitis pigmentosa - cone-rod dystrophy - diagnosis - imaging - genetic testing

Publikationsverlauf

Eingereicht: 13. Oktober 2020

Angenommen: 09. Februar 2021

Artikel online veröffentlicht:
30. März 2021

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