Analysis of suspected Achromatopsia by multimodal Diagnostics.

Publication

Analysis of suspected Achromatopsia by multimodal Diagnostics.

Journal Paper/Review - Sep 15, 2023

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

Citation

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

Type

Journal Paper/Review (Deutsch)

Journal

Klin Monbl Augenheilkd 2023

Publication Date

Sep 15, 2023

Issn Electronic

1439-3999

Brief description/objective

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.