Purpose To compare the diagnostic power of slit-lamp examination with the in vivo corneal confocal microscopy (IVCM) as the gold standard in assessing the presence of corneal epithelial deposits in patients with Fabry disease (FD).
Methods Fourteen patients with FD (4 males, 10 females; mean age, 46.8 years) and eight healthy controls (4 males, 4 females; mean age, 36.75 years) were included. All subjects underwent slit-lamp examination and IVCM of both central and peripheral corneal quadrants with the Heidelberg Retina Tomograph-III in combination with the Rostock Cornea Module.
Results In patients with FD, 9 of 28 eyes (32%) showed the presence of cornea verticillata at the slit-lamp examination and 25 eyes (89%) showed the presence of epithelial hyper-reflective deposits at the IVCM. Of the 19 eyes negative at the slit-lamp examination, 16 eyes showed the presence of epithelial deposits at the IVCM. Compared with controls, patients with FD had a significantly reduced number, density and length of nerve fibres at the level of corneal sub-basal nerve plexus, but a significantly higher grade of fibres tortuosity.
Conclusions The slit-lamp examination has a limited diagnostic power in the detection of epithelial deposits in patients with FD when compared with the IVCM. In fact, the slit-lamp examination suffers from a high number of false negative results and, consequently, from a low negative predictive value (16%). IVCM allows the detection of corneal microstructural changes in patients with FD and may represent a reliable tool for the early diagnosis and follow-up of the disease.
- ocular surface
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Correction notice This paper has been amended since it was published Online First. The code for the gene mutation in patient N.12 reported in Table 4 is not correct and has been changed to c.644A>G.
Contributors Conception and design: AL, GC, DL and VR. Analysis and interpretation: AL, DL, RLM and LC. Writing the article: AL, RLM and VR. Critical revision of the article: AL, GC and LC. Final approval of the article: AL, RLM and LC. Data Collection: VR, TS, RLM, DL and GC. Provision of materials, patients or resources: GC, VR and TS. Statistical expertise: LC.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement Data are available on request. Data may be obtained from a third party and are not publicly available. All data relevant to the study are included in the article or uploaded as online supplementary information.