Macular impairment in fabry disease: A morpho-functional assessment by swept-source OCT angiography and focal electroretinography

Angelo Maria Minnella, Benedetto Falsini, Giorgio Placidi, Aldo Caporossi, Raffaele Manna, Lucilla Barbano, Francesco Martelli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

6 Citazioni (Scopus)

Abstract

PURPOSE. Fabry disease (FD) is a multiorgan X-linked condition characterized by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in a progressive intralysosomal deposit of globotriaosylceramide. The aim of this study was to evaluate the macular ultrastructure of the vascular network using optical coherence tomography angiography (OCTA) and to evaluate macular function using focal electroretinography (fERG) in Fabry patients (FPs). METHODS. A total of 20 FPs (38 eyes, mean age 57 ± 2.12 SD, range of 27–80 years) and 17 healthy controls (27 eyes, mean age 45 years ± 20.50 SD, range of 24–65 years) were enrolled in the study. Color fundus photography, swept-source optical coherence tomography (SS-OCT), OCTA and fERG were performed in all subjects. The OCTA foveal avascular zone (FAZ), vasculature structure, superficial and deep retinal plexus densities (images of 4.5 X 4.5 mm) and fERG amplitudes were measured. Group differences were statistically assessed by Student’s t-test and ANOVA. RESULTS. In the FP group, the FAZ areas of the superficial and deep plexuses were enlarged (P = 0.036, t = 2.138; P < 0.001, t = 3.889, respectively), the vessel density was increased in the superficial plexus, and the fERG amplitude was reduced (P < 0.001, t = 10.647) compared with those in healthy controls. No significant correlations were found between the structural and functional data. CONCLUSIONS. OCTA vascular abnormalities and reduced fERG amplitudes indicate subclinical signs of microangiopathy with early retinal dysfunction in FPs. This study highlights the relevance of OCTA imaging analysis in the identification of abnormal macular vasculature as an ocular hallmark of FD.
Lingua originaleEnglish
pagine (da-a)2667-2675
Numero di pagine9
RivistaINVESTIGATIVE OPHTHALMOLOGY &amp; VISUAL SCIENCE
Volume60
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

  • Fabry disease
  • Focal electroretinogram
  • Innovative biotechnology
  • OCT angiography
  • Retina

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