Fundus autofluorescence in autosomal dominant occult macular dystrophy

Arch Ophthalmol. 2011 May;129(5):597-602. doi: 10.1001/archophthalmol.2011.96.


Objective: To characterize fundus autofluorescence (FAF) images of eyes with autosomal dominant occult macular dystrophy (OMD).

Methods: All patients received a comprehensive ophthalmologic examination for diagnosis of OMD. We evaluated the FAF images in 13 eyes of 7 patients with autosomal dominant OMD by confocal scanning laser ophthalmoscopy with excitation at 488 nm and emission more than 500 nm.

Results: The FAF images showed unspecific weak foveal hyperfluorescence in 4 eyes of 2 patients; one showed a thin hyperfluorescence in the temporal fovea bilaterally and the other showed weak hyperfluorescence in the fovea bilaterally. The optical coherence tomographic images showed abnormalities of the photoreceptor inner segment-outer segment line and cone outer segment tip line in all patients. However, 5 patients had normal FAF images regardless of morphological abnormalities of the photoreceptor.

Conclusions: Fundus autofluorescence is a useful method to acquire additional information of photoreceptor/retinal pigment epithelium function in eyes with OMD. Fundus autofluorescence will be also helpful for the differential diagnosis of eyes with OMD vs eyes with other dystrophies that have a distinctive FAF pattern.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Electroretinography
  • Female
  • Fluorescein Angiography*
  • Fundus Oculi
  • Genes, Dominant*
  • Humans
  • Macular Degeneration / diagnosis*
  • Macular Degeneration / genetics*
  • Male
  • Middle Aged
  • Ophthalmoscopy
  • Retina / pathology*
  • Retinal Photoreceptor Cell Outer Segment / pathology
  • Retinal Pigment Epithelium / pathology
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests
  • Visual Fields / physiology