Analysis of spectral domain optical coherence tomography findings in occult macular dystrophy

To describe findings of spectral domain optical coherence tomography (SD-OCT) in the diagnosis of occult macular dystrophy (OMD).

Five visually disturbed patients who had shown normal findings in full field electroretinogram (ERG), fundus photography and fluorescein angiography but abnormal findings in multifocal ERG had undergone SD-OCT. The morphologic changes in retina and macular thickness were detected and imaged by SD-OCT. We analysed the results of SD-OCT including macular thickness, inner segment and outer segment (IS/OS) boundary and external limiting membrane (ELM).

Mean age was 41.6 (22-63) in three male and two female patients in this study. Mean central foveal thickness was 142.9 (76-161) μm. All patients had shown decreased bowing of IS/OS boundary, and five of nine eyes were noted with disrupted IS/OS boundary of the photoreceptors according to SD-OCT. The interruption of external limiting membrane was noted in three of nine eyes.

Spectral domain optical coherence tomography findings are useful in diagnosing OMD. Morphologic changes of the retina including deformity of the OS/IS boundary of the photoreceptors, disruption of the ELM and decreased foveal thickness may be important characteristics to consider when determining the pathophysiology and diagnosing criteria of OMD.