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.