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Article

Genetic and phenotypic heterogeneity in pattern dystrophy.

The British journal of ophthalmology - 1 Sept 2005

Francis P J, Schultz D W, Gregory A M, Schain M B, Barra R, Majewski J, Ott J, Acott T, Weleber R G, Klein M L

Abstract excerpt

BACKGROUND: The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised. METHODS: Families were ascertained and clinically evaluated...

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Identifiers

PMID: 16113362
DOI: 10.1136/bjo.2004.062695
PMCID: PMC1772799

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