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Cennamo G, Di Maio LG, Montorio D, et al. Optical Coherence Tomography Angiography Findings in Fabry Disease. J Clin Med. 2019;8(4)doi: 10.3390/jcm8040528.
Cennamo, G., Di Maio, L. G., Montorio, D., Tranfa, F., Russo, C., Pontillo, G., Cocozza, S., Esposito, R., Di Risi, T., Imbriaco, M., Spinelli, L., Riccio, E., & Pisani, A. (2019). Optical Coherence Tomography Angiography Findings in Fabry Disease. Journal of clinical medicine, 8(4), . https://doi.org/10.3390/jcm8040528
Cennamo, Gilda, et al. "Optical Coherence Tomography Angiography Findings in Fabry Disease." Journal of clinical medicine vol. 8,4 (2019). doi: https://doi.org/10.3390/jcm8040528
Cennamo G, Di Maio LG, Montorio D, Tranfa F, Russo C, Pontillo G, Cocozza S, Esposito R, Di Risi T, Imbriaco M, Spinelli L, Riccio E, Pisani A. Optical Coherence Tomography Angiography Findings in Fabry Disease. J Clin Med. 2019 Apr 17;8(4). doi: 10.3390/jcm8040528. PMID: 30999633; PMCID: PMC6517973.
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J Clin Med. 2019 Apr 17;8(4). doi: 10.3390/jcm8040528.

Optical Coherence Tomography Angiography Findings in Fabry Disease.

Journal of clinical medicine

Gilda Cennamo, Laura Giovanna Di Maio, Daniela Montorio, Fausto Tranfa, Camilla Russo, Giuseppe Pontillo, Sirio Cocozza, Roberta Esposito, Teodolinda Di Risi, Massimo Imbriaco, Letizia Spinelli, Eleonora Riccio, Antonio Pisani

Affiliations

  1. Eye Clinic, Public Health Department, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  2. Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  3. Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  4. Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  5. Department of Advanced Biomedical Sciences, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  6. Department of Advanced Biomedical Sciences, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  7. Department of Advanced Biomedical Sciences, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  8. Department of Advanced Biomedical Sciences, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  9. CEINGE-Advanced Biotechnology s.c. a. r.l., 80145 Naples, Italy. [email protected].
  10. Department of Public Medicine, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  11. Department of Advanced Biomedical Sciences, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  12. Department of Advanced Biomedical Sciences, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  13. Department of Public Medicine, University of Naples "Federico II", 80100 Naples, Italy. [email protected].
  14. Department of Public Medicine, University of Naples "Federico II", 80100 Naples, Italy. [email protected].

PMID: 30999633 PMCID: PMC6517973 DOI: 10.3390/jcm8040528

Abstract

BACKGROUND: Fabry disease (FD) is a X-linked recessive lysosomal storage disorder characterized by altered biodegradation of glycosphingolipids. It is a multisystem pathology, also involving ophthalmological systems that show modifications of the vessel wall due to glycosphingolipid deposits. Optical coherence tomography angiography (OCT-A) allows for an objective analysis of retinal microvasculature alterations, evaluating retinal vessel density in macular region.

METHODS: A total of 54 FD patients (34 females, 20 males, mean age 44.1 ± 15.6 years) and 70 controls (36 females, 34 males, mean age 42.3 ± 15.6 years) were included in this study. We evaluated vessel density in different macular areas (whole image, fovea, and parafovea) of both the superficial capillary plexus (SCP) and of the deep capillary plexus (DCP).

RESULTS: In the SCP there was a significantly lower vascular density in patients compared with controls in whole image (49.95 ± 5.17% vs. 51.99 ± 2.52%;

CONCLUSION: OCT-A analysis showed that the macular vessel density was significantly reduced in the SCP and increased in the DCP in FD patients compared with controls. These findings, which might be a consequence of the alteration of vascular wall occurring in FD, support the hypothesis that the evaluation of early retinal microvascular network changes could be a useful tool in the clinical evaluation of the disease.

Keywords: Fabry disease; optical coherence tomography angiography; retinal tortuosity; retinal vessel density

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