Spectral domain optical coherence tomography in adult-onset vitelliform macular dystrophy with cuticular drusen

The purpose of this study was to investigate morphologic differences in a consecutive case series of patients suffering from adult-onset vitelliform macular dystrophy with cuticular drusen (CD) compared with another patient group with a vitelliform lesion only using high-resolution in vivo retinal imaging.

Simultaneous spectral domain optical coherence tomography (870 nm, 40.000 A-scans per second) and confocal scanning laser ophthalmoscopy were performed in 6 patients (12 eyes) with adult-onset vitelliform macular dystrophy using a combined instrument (Spectralis HRA+OCT; Heidelberg Engineering, Heidelberg, Germany).

Mean age was 69 years (59-82 years), and mean visual acuity was 20/80. The vitelliform lesion presented with an accumulation of yellow-gray material with increased fundus autofluorescence. Spectral domain optical coherence tomography imaging showed that the neurosensory detachment was filled with an amorphous homogenously reflective material located between the retinal pigment epithelium and neurosensory retina in the inferior part of the lesion with the superior part being optically empty. The retinal pigment epithelium basal membrane/Bruch membrane band on spectral domain optical coherence tomography showed multiple focal nodules, in analogy to histologic descriptions of CD. Longitudinal observations in a subgroup of patients showed that the vitelliform detachment collapsed with subsequent development of geographic atrophy in patients with CDs.

Cuticular drusen may be an indicator for a generalized retinal pigment epithelium dysfunction. High-resolution spectral domain optical coherence tomography allows to image morphologic differences in adult-onset vitelliform macular dystrophy with and without CDs, providing further evidence that adult-onset vitelliform macular dystrophy with CDs represents a separate disease entity.