Macular Hole Complicating Familial Exudative Vitreoretinopathy Due to LRP5 Mutation in an Adolescent

Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):e49-e51. doi: 10.3928/23258160-20190129-19.

Abstract

A 17-year-old boy, previously diagnosed with familial exudative vitreoretinopathy (FEVR) due to LRP5 mutation, complained of left eye decreased vision. Serial imaging by optical coherence tomography showed vitreomacular traction that progressed to lamellar macular hole (MH), and further evolved to full-thickness MH 3 weeks later. Visual acuity (VA) was 20/200. Pars plana vitrectomy with encircling buckle, internal limiting membrane peeling, and gas tamponade were performed. Three months postoperatively, VA had increased to 20/25 and the MH remained closed. This case illustrates how vitreomacular interface disorders may complicate FEVR, as exemplified for the first time in a case with LRP5 mutation. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e49-e51.].

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Eye Diseases, Hereditary / complications*
  • Eye Diseases, Hereditary / genetics
  • Familial Exudative Vitreoretinopathies
  • Humans
  • Low Density Lipoprotein Receptor-Related Protein-5 / genetics*
  • Male
  • Mutation*
  • Retinal Diseases / complications*
  • Retinal Diseases / genetics
  • Retinal Perforations / etiology*

Substances

  • LRP5 protein, human
  • Low Density Lipoprotein Receptor-Related Protein-5