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

doi:10.1080/13816810490514388

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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...

Topics

Adult
Aged
Chromosome Mapping
DNA Mutational Analysis
Female
Fluorescein Angiography
Humans
Intermediate Filament Proteins
Macular Degeneration
Male
Membrane Glycoproteins
Middle Aged
Mutation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Pedigree

Peripherins

Phenotype

Source

Open in PubMed

Identifiers

PMID: 15370544
DOI: 10.1080/13816810490514388

Provenance

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