Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT.
OBJECTIVE
To investigate retinal microstructure of patients affected with malattia leventinese (MLVT) and mutation in the EFEMP1 gene using high-resolution optical coherence tomography (OCT).


METHODS
Patients diagnosed with MLVT received a comprehensive eye exam, full-field and multifocal electroretinogram testing and imaging with a high-resolution Fourier domain OCT (Fd-OCT, UC Davis Medical Center, Davis, USA; axial resolution: 4.5 microm, acquisition speed: 9 frames s(-1), 1000 A scans s(-1)) combined with a flexible scanning head (Bioptigen Inc. Durham, NC, USA).


RESULTS
Two related patients aged 30 and 60 years, with MLVT and identified c.R345W mutation in the EFEMP1 gene, were tested. Mother and daughter showed a variable phenotype with reduced vision function in the younger patient, whereas the mother had a 'form frustre'. Fd-OCT revealed extensive or focal sub-retinal pigment epithelium (RPE) deposits, separation of RPE and Bruch's membrane, and disruption of the photoreceptor outer and inner segment layers. No outer retinal changes were visible outside areas with sub-RPE deposits.


CONCLUSIONS
Retinal structure in EFEMP1 retinal dystrophy is reflected by morphological changes within the RPE/Bruch's membrane complex with accumulation of sub-RPE material associated with disrupted photoreceptor integrity. The pattern of microstructural retinal abnormalities is similar but with a different extent in patients with variable phenotypes.
Gerth
C
C
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Canada.
Zawadzki
R J
RJ
Werner
J S
JS
Héon
E
E
D000328:Adult; D016570:Bruch Membrane; D004596:Electroretinography; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012160:Retina / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D055213:Retinal Pigment Epithelium / Q000473:pathology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins
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