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Article

Adult Onset Foveomacular Vitelliform Dystrophy Shows Genetic Overlap With Age-Related Macular Degeneration.

Investigative ophthalmology & visual science - 4 Nov 2024

Jaskoll Shlomit, Kramer Adi, Elbaz-Hayoun Sarah, Rinsky Batya, Eandi Chiara M, Grunin Michelle, Shwartz Yahel, Tiosano Liran, Heid Iris M, Winkler Thomas, Chowers Itay

Abstract excerpt

Purpose: Adult-onset foveomacular vitelliform dystrophy (AFVD) shares phenotypic similarities with age-related macular degeneration (AMD). The genetic factors associated with AFVD are unknown in >80% of cases. This study evaluated the association of known AMD genetic risk variants with AFVD and compared systemic complement activation in these conditions. Methods: Clinical, imaging, and genetic data were collected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

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Share to Polymorphism, Single Nucleotide

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Share to Vitelliform Macular Dystrophy

Source

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Identifiers

PMID: 39585675
DOI: 10.1167/iovs.65.13.53
PMCID: PMC11601137

Genes

ARMS2
C2
CFB
CFH
HTRA1
RORB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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