TY - JOUR
T1 - Macular impairment in fabry disease: A morpho-functional assessment by swept-source OCT angiography and focal electroretinography
AU - Minnella, Angelo Maria
AU - Falsini, Benedetto
AU - Placidi, Giorgio
AU - Caporossi, Aldo
AU - Manna, Raffaele
AU - Barbano, Lucilla
AU - Martelli, Francesco
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - Fabry disease
KW - Focal electroretinogram
KW - Innovative biotechnology
KW - OCT angiography
KW - Retina
KW - Fabry disease
KW - Focal electroretinogram
KW - Innovative biotechnology
KW - OCT angiography
KW - Retina
UR - http://hdl.handle.net/10807/141742
UR - https://iovs.arvojournals.org/arvo/content_public/journal/iovs/938044/i1552-5783-60-7-2667.pdf
U2 - 10.1167/iovs.18-26052
DO - 10.1167/iovs.18-26052
M3 - Article
VL - 60
SP - 2667
EP - 2675
JO - INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
JF - INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
SN - 0146-0404
ER -