Disruption in Bruch membrane in patients with Stargardt disease

Ophthalmic Genet. 2012 Mar;33(1):49-52. doi: 10.3109/13816810.2011.628358. Epub 2011 Nov 7.


Purpose: To describe the spectral domain-optical coherence tomography (SD-OCT) findings of two patients with complete defects in the retinal pigment epithelium (RPE) with disruptions in Bruch membrane in Stargardt disease (STGD1).

Methods: Two patients with STGD1 were referred to our clinic for further evaluation. Fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), electroretinography (ERG) and Microperimetry (MP-1) were performed to assess the retinal anatomy and function. Screening for mutations in the ABCA4 gene was carried out and detected mutations were confirmed by direct sequencing.

Results: Both patients had bilateral macular geographic atrophy (GA) and yellowish subretinal pisciform flecks and mutations were detected in the ABCA4 gene by chip screening. SD-OCT revealed marked atrophy of the retina in the central macula, with focal defects in the RPE with disruptions in Bruch membrane and herniation of the retina through the defect in three of four eyes.

Conclusion: This case report highlights the necessity for a detailed ophthalmic examination including SD-OCT of patients with STGD1.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adult
  • Bruch Membrane / pathology*
  • DNA Mutational Analysis
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Geographic Atrophy / genetics
  • Humans
  • Macular Degeneration / congenital
  • Macular Degeneration / diagnosis*
  • Macular Degeneration / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Retinal Pigment Epithelium / pathology*
  • Stargardt Disease
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests


  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters

Supplementary concepts

  • Stargardt disease 1