Analysis of suspected Achromatopsia by multimodal Diagnostics.

Publikation

Analysis of suspected Achromatopsia by multimodal Diagnostics.

Wissenschaftlicher Artikel/Review - 15.09.2023

Kugler Sylvia A, Valmaggia Christophe, Sturm Veit, Schorderet Daniel F., Todorova Margarita

Zitation

Kugler S, Valmaggia C, Sturm V, Schorderet D, Todorova M. Analysis of suspected Achromatopsia by multimodal Diagnostics. Klin Monbl Augenheilkd 2023

Art

Wissenschaftlicher Artikel/Review (Deutsch)

Zeitschrift

Klin Monbl Augenheilkd 2023

Veröffentlichungsdatum

15.09.2023

eISSN (Online)

1439-3999

Kurzbeschreibung/Zielsetzung

Achromatopsia (ACHM) as a hereditary cone disease might manifest in a stationary and progressive manner. The proper The primary aim of the study was to determine the spectrum of clinical and genetic diagnostics required to characterize the ACHM.The primary aim of the study was to determine the spectrum of clinical and genetic diagnostics required to characterize the ACHM.