Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.

doi:10.1016/j.ajo.2025.08.006

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Article

Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.

American journal of ophthalmology - 1 Dec 2025

Zhang Wenlin, Duong Huong, Jongkhajornpong Passara, Hang Do Thi Thuy, Pham Huan, Nguyen Mai, Choo Charlene, Williams Dominic, Nguyen Xuan, Nguyen Tien Dat, Aguirre Brian, Khan Shaukat, Wadehra Madhuri, Tomatsu Shunji, Aldave Anthony J

Abstract excerpt

OBJECTIVE: To report a CHST6-associated corneal endothelial dystrophy. DESIGN: Prospective observational case series. PARTICIPANTS: Thirty-five individuals from seven families, including 13 affected individuals exhibiting corneal epithelial and stromal edema, peripheral posterior corneal macular opacities, and endothelial guttae, as well as 22 unaffected family members. METHODS: Whole-exome sequencing was...

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Topics

Humans
Male
Prospective Studies
Female
Middle Aged
Pedigree

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Adult

Endothelium, Corneal

Exome Sequencing

Sulfotransferases

Carbohydrate Sulfotransferases

Aged

DNA Mutational Analysis

Corneal Dystrophies, Hereditary

Descemet Stripping Endothelial Keratoplasty

Promoter Regions, Genetic

Descemet Membrane

Source

Open in PubMed Open full text

Identifiers

PMID: 40803642
DOI: 10.1016/j.ajo.2025.08.006
PMCID: PMC13614686

Genes

CHST6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Oct 2026.

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