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D. Zur

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Review Open access Sep 2026

From Intermediate AMD to Geographic Atrophy: Biomarkers, Endpoints, and a Roadmap for Next-Generation Clinical Trials.

Age-related macular degeneration (AMD) is a leading cause of irreversible legal blindness worldwide. Treatments exist for late-stage AMD, but none exists for the intermediate stage (iAMD), which precedes significant vision loss. A therapy tested in iAMD would aim to prevent or slow progression to late-stage disease, me...

Alessandro Berni, P. Rosenfeld, D. Bacherini et al. · 0 citations
Open access Jul 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy

KATNA1 is established as a novel gene associated with adMD, possibly accounting for ~4% of all unresolved MD cases, and associate defective microtubule severing and cytoskeletal dysregulation with macular degeneration.

Carlo Rivolta, Karolina Kaminska, Abigail R. Moye et al. · 0 citations
Open access Aug 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.

Petra Liskova, L. Dudakova, Karolina Kaminska et al. · 0 citations

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