Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies

Abstract Background This study investigates the clinical manifestations of inherited retinal diseases (IRD) associated with dual-gene variant constellations involving biallelic ABCA4 variants. Methods We assess four cases for their unique phenotypic outcomes due to biallelic ABCA4 variants and addit...

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Main Authors: Lasse Wolfram, David A. Merle, Laura Kühlewein, Milda Reith, Melanie Kempf, Krunoslav Stingl, Tobias Haack, Pascale Mazzola, Karin Poths, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Katarina Stingl
Format: Article
Language:English
Published: BMC 2025-04-01
Series:BMC Ophthalmology
Subjects:
Inherited retinal diseases
Retinal dystrophies
Dual-gene variants
Genotype-phenotype correlations
ABCA4
CACNA1F
Online Access:https://doi.org/10.1186/s12886-025-04048-1
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https://doi.org/10.1186/s12886-025-04048-1

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