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Article

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.

Ophthalmic genetics - 1 Jun 2004

Yang Zhenglin, Li Yang, Jiang Li, Karan Goutam, Moshfeghi Darius, O'Connor Scott, Li Xi, Yu Zhengya, Lewis Hilel, Zack Donald, Jacobson Samuel, Zhang Kang

Abstract excerpt

Pattern dystrophy is a heterogeneous group of retinal dystrophies of which butterfly-shaped pattern dystrophy (BPD) and adult-onset foveomacular dystrophy (AOFMD) are the two most common forms. BPD is characterized by a butterfly-shaped, irregular, depigmented lesion at the level of the retinal pigment epithelium. In contrast, AOFMD is characterized by the presence of slightly elevated, symmetric, solitary, round...

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Source

Identifiers

PMID: 15370544
DOI: 10.1080/13816810490514388

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.PMID 15370544Read ↗

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Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.Semantic proximity Read ↗

A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophySemantic proximity Read ↗

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Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.Semantic proximity Read ↗

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Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.Semantic proximity Read ↗

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