Macular hole in Stargardt disease: Clinical and ultra-structural observation

Ophthalmic Genet. 2017 Sep-Oct;38(5):486-489. doi: 10.1080/13816810.2016.1266666. Epub 2017 Jan 25.

Abstract

Purpose: To report for the first time a case report of a Stargardt disease patient who developed a macular hole (MH) which was treated with a surgical approach.

Method: Case report.

Results: After vitrectomy a complete closure of the MH was obtained and the best-corrected visual acuity remained stable. No complications were reported after one year of follow-up. An ultra-structural examination of the removed internal limiting membrane (ILM) and epiretinal membrane (ERM) was carried out under electron microscopy.

Conclusion: Vitreo-retinal surgery could represent a therapeutic option to treat vitreo-retinal interface abnormalities associated with inherited retinal diseases.

Keywords: Genetics; Stargardt disease; macular hole; retinal dystrophy; vitrectomy.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Adult
  • Basement Membrane / surgery
  • Basement Membrane / ultrastructure*
  • Electroretinography
  • Epiretinal Membrane / pathology*
  • Epiretinal Membrane / surgery
  • Female
  • Humans
  • Macular Degeneration / complications
  • Macular Degeneration / congenital*
  • Macular Degeneration / pathology
  • Macular Degeneration / surgery
  • Retinal Perforations / etiology*
  • Retinal Perforations / pathology
  • Retinal Perforations / surgery
  • Stargardt Disease
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests
  • Vitrectomy
  • Vitreoretinal Surgery

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters