Pseudoxanthoma elasticum associated with vitelliform macular lesion

Ophthalmic Surg Lasers Imaging Retina. 2015 Feb;46(2):287-8. doi: 10.3928/23258160-20150213-11.

Abstract

The authors describe an uncommon association between pseudoxanthoma elasticum with typical fundus lesions and positive testing for mutation in the ABCC6 gene and the concomitant presence of a large subfoveal vitelliform lesion.

Publication types

  • Case Reports

MeSH terms

  • Angioid Streaks / complications*
  • Angioid Streaks / diagnosis
  • Angioid Streaks / genetics
  • Female
  • Fluorescein Angiography
  • Humans
  • Middle Aged
  • Multidrug Resistance-Associated Proteins / genetics
  • Mutation / genetics
  • Pseudoxanthoma Elasticum / diagnosis
  • Pseudoxanthoma Elasticum / etiology*
  • Pseudoxanthoma Elasticum / genetics
  • Retinal Pigment Epithelium / pathology*
  • Tomography, Optical Coherence
  • Visual Acuity
  • Vitelliform Macular Dystrophy / complications*
  • Vitelliform Macular Dystrophy / diagnosis
  • Vitelliform Macular Dystrophy / genetics

Substances

  • ABCC6 protein, human
  • Multidrug Resistance-Associated Proteins