title: Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
authors.forename: Sang Jun
authors.initials: SJ
authors.lastname: Park
authors.forename: Se Joon
authors.initials: SJ
authors.lastname: Woo
authors.forename: Kyu Hyung
authors.initials: KH
authors.lastname: Park
authors.forename: Jeong-Min
authors.initials: JM
authors.lastname: Hwang
authors.forename: Hum
authors.initials: H
authors.lastname: Chung
mesh_terms: D000328:Adult; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult