Fundus autofluorescence in autosomal dominant occult macular dystrophy

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.