Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.

doi:10.1080/13816810.2026.2644217

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Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.

Ophthalmic genetics - 1 Oct 2026

Zhang Peijun, Quinodoz Mathieu, Ong Charles, Ho Josephine Rui Ying, Tang Rachael W C, Tan Tien-En, Chan Choi Mun, Mathur Ranjana S, Tay Hwee Goon, Rivolta Carlo, Fenner Beau J

Abstract excerpt

INTRODUCTION: We report two ethnic Chinese families affected by distinct drusenoid inherited maculopathies: Doyne Honeycomb Retinal Dystrophy (DHRD) and Late-Onset Retinal Degeneration (L-ORD)-to expand their recognized phenotypic and ethnic spectrum. METHODS: Affected members underwent multimodal ophthalmic imaging, including fundus photography, autofluorescence, optical coherence tomography, and widefield...

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Topics

Adult
Aged
Female
Humans
Male
Middle Aged

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

Corneal Dystrophies, Hereditary

Extracellular Matrix Proteins

Fluorescein Angiography

Macular Degeneration

Mutation

Pedigree

Retinal Degeneration

Retinal Drusen

Singapore

Tomography, Optical Coherence

East Asian People

Collagen

Source

Open in PubMed

Identifiers

PMID: 41834303
DOI: 10.1080/13816810.2026.2644217

Genes

C1QTNF5
EFEMP1

Variants

Provenance

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