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PURPOSE. To investigate morphologic photoreceptor layer abnormalities and their correlation with visual function in occult macular dystrophy (OMD), by using spectral-domain optical coherence tomography (SD-OCT). METHODS. This observational case series included 18 eyes of 9 patients with OMD. All patients underwent an ophthalmic evaluation, which included a fundus examination, fluorescein angiography, full-field electroretinography (ERG), multifocal ERG, time-domain optical coherence tomography (TD-OCT), and visual field testing. Morphologic photoreceptor layer abnormalities of the retinal layers were investigated with SD-OCT. The structure-function relationship was investigated regarding visual acuity, symptom duration, and multifocal ERG RESULTS: RESULTS. Best corrected visual acuity ranged from 20/200 to 20/20. Four patients had a symmetric decline of acuity in both eyes (20/200-20/100), and five had unilateral vision impairment (20/200-20/50). TD-OCT showed foveal thinning in all patients, but revealed no other retinal layer abnormality. In 15 eyes of 8 patients, SD-OCT demonstrated a well-defined disruption of the inner segment-outer segment (IS-OS) junction of the photoreceptors and of the Verhoeff membrane (cone outer segment tips). SD-OCT showed that three of five patients with presumed unilateral OMD had bilateral OMD after initial or follow-up examinations. Degrees of abnormality in the photoreceptor layer varied and correlated with visual acuity and symptom duration. CONCLUSIONS. SD-OCT can demonstrate the disruption of photoreceptors in most patients with OMD and the morphologic changes on SD-OCT correlate with visual function and disease progression. These morphologic abnormalities can be an important feature and cause of vision loss in patients with OMD.

Morphologic Photoreceptor Abnormality in Occult Macular Dystrophy on Spectral-Domain Optical Coherence Tomography