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Article

Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.

Retina (Philadelphia, Pa.) - 1 May 2009

Anand Seema, Sheridan Eamonn, Cassidy Frances, Inglehearn Chris, Williams Grange, Springell Kelly, Allgar Victoria, Kelly Thu-Lan, McKibbin Martin

Abstract excerpt

PURPOSE: To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu). METHODS: Total area of geographic atrophy in 18 affected individuals with the peripherin/RDS Arg172Trp substitution was measured from retinal photographs and...

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Source

Identifiers

PMID: 19262438
DOI: 10.1097/IAE.0b013e318198dbed

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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