Case Series
Eye (2009) 23, 480–483; doi:10.1038/eye.2008.251; published online 12 September 2008
Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT
C Gerth1,2, R J Zawadzki3, J S Werner3 and E Héon1
- 1Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada
- 2Department of Ophthalmology, University of Rostock, Rostock, Germany
- 3Department of Ophthalmology and Vision Science, Vision Science and Advanced Retinal Imaging Laboratory (VSRI), University of California, Davis, USA
Correspondence: E Héon, Department of Ophthalmology and Vision Sciences, University of Toronto and Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada M5G 1X8. Tel: +416 813 8606; Fax: +416 813 8266; E-mail: eheon@attglobal.net
Received 24 June 2008; Revised 14 July 2008; Accepted 14 July 2008; Published online 12 September 2008.
Abstract
Objectives
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 
m, 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.
Conclusion
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.
Keywords:
autosomal dominant drusen, EFEMP1, Fourier domain OCT, malattia leventinese
