Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT

C. Gerth, Robert Zawadzki, John S Werner, E. Héon

Research output: Contribution to journalArticle

13 Citations (Scopus)

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 μm, 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.

Original languageEnglish (US)
Pages (from-to)480-483
Number of pages4
JournalEye
Volume23
Issue number2
DOIs
StatePublished - Feb 2009

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Retinal Dystrophies
Retinal Pigment Epithelium
Optical Coherence Tomography
Bruch Membrane
Mothers
Phenotype
Low Vision
Mutation
Nuclear Family
Genes
Head
Doyne honeycomb retinal dystrophy

Keywords

  • Autosomal dominant drusen
  • EFEMP1
  • Fourier domain OCT
  • Malattia leventinese

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT. / Gerth, C.; Zawadzki, Robert; Werner, John S; Héon, E.

In: Eye, Vol. 23, No. 2, 02.2009, p. 480-483.

Research output: Contribution to journalArticle

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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 μm, 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.",
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