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Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Nature Genetics volume 3, pages 202–207 (1993)Cite this article

Abstract

Butterfly–shaped pigment dystrophy of the fovea is an autosomal dominant eye disease characterized by a bilateral accumulation of yellowish or pigmented material at the level of the retinal pigment epithelium. It shares some clinical and histopathologic features with age related macular degeneration which is the most common cause of legal blindness in older patients. We screened affected patients from a three generation family with butterfly dystrophy for mutations in candidate genes. A base substitution was identified in the peripherin (RDS) gene and DMA sequencing revealed a G to A transition in codon 167 that substitutes aspartic acid for a highly conserved glycine. The mutation segregates with the disease phenotype (Zmax = 4, Θ = 0) strongly suggesting that it causes the macular disease in this family.

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Authors and Affiliations

  1. Department of Ophthalmology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, 52242, USA

    Brian E. Nichols, Kimberlie Vandenburgh, Arlene V. Drack, Alan E. Kimura & Edwin M. Stone

  2. Department of Pediatrics, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, 52242, USA

    Val C. Sheffield

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Nichols, B., Sheffield, V., Vandenburgh, K. et al. Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 3, 202–207 (1993). https://doi.org/10.1038/ng0393-202

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