Multimodal imaging of occult macular dystrophy.

IMPORTANCE: The value of imaging modalities remains unknown in occult macular dystrophy (OMD) because they have not been compared in previous studies to our knowledge. Furthermore, because most OMD imaging studies have been limited to a single imaging modality, information about retinal pathologic characteristics simultaneously obtained using multimodal imaging has not been provided for OMD to date.

OBJECTIVES: To investigate the clinical and retinal pathologic features of OMD using multimodal imaging and to assess their value in OMD.

DESIGN AND SETTING: Retrospective imaging study in an academic research setting.

PARTICIPANTS: Forty-six eyes from 25 Korean patients diagnosed as having OMD.

INTERVENTIONS: Detailed retinal morphologic abnormalities were evaluated using spectral-domain optical coherence tomography (SD-OCT), fundus infrared (IR) reflectance, autofluorescence (AF), and IR-AF imaging.

MAIN OUTCOME MEASURES: Quantitative and qualitative morphologic features were evaluated for their association with visual and electrophysiologic function.

RESULTS: All eyes showed abnormal outer retinal structures in the macula as assessed by SD-OCT. Abnormal round dark macular areas were detected with dark fundus IR reflectance imaging in 36 of 46 eyes (78%). This area corresponded to the area of photoreceptor disruption revealed by SD-OCT and was associated with visual acuity, perimetric results, and multifocal electroretinography responses. In 6 of 18 eyes (33%), IR-AF imaging showed central hypoautofluorescence within normal hyperautofluorescence. In 2 of 18 eyes (11%), fundus AF showed weak hyperautofluorescence. Progression of photoreceptor disruption was identifiable on SD-OCT, and hyporeflectance in IR images became more evident in eyes showing OMD progression.

CONCLUSIONS AND RELEVANCE: Across multimodal imaging, SD-OCT was most valuable for diagnosis and for determining the outer retinal pathologic features of OMD. Outer retinal pathologic changes manifested different morphologic abnormalities, indicating that OMD is a heterogeneous disease. Fundus IR reflectance imaging is an easy and helpful adjunct for the diagnosis and detection of OMD progression.