July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Ocular Surface impairment in Fabry disease
Author Affiliations & Notes
  • Chiara Fariselli
    S.Orsola Malpighi University Hospital, Bologna, Italy
  • Michela Fresina
    S.Orsola Malpighi University Hospital, Bologna, Italy
  • Piera Versura
    S.Orsola Malpighi University Hospital, Bologna, Italy
  • Emilio C Campos
    S.Orsola Malpighi University Hospital, Bologna, Italy
  • Footnotes
    Commercial Relationships   Chiara Fariselli, None; Michela Fresina, None; Piera Versura, None; Emilio Campos, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 4713. doi:
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      Chiara Fariselli, Michela Fresina, Piera Versura, Emilio C Campos; Ocular Surface impairment in Fabry disease. Invest. Ophthalmol. Vis. Sci. 2019;60(9):4713.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : To diagnose Dry Eye in Fabry disease patients according to the criteria of TFOS DEWS II 2017. Ocular surface parameters, Meibomian glands and tear film profile were studied in order to obtain considerable information about the impact of this lipid storage disorder on the ocular surface.

Methods : 31 patients (14 males, 17 females; 62 eyes) affected by Fabry disease, aged 46.58 years on average, underwent a full ophthalmological examination, with particular attention to cornea verticillata and conjunctival vessel anomalies. 23 patients were being treated with enzyme replacement therapy (ERT). Data for symptoms of discomfort (OSDI and VAS pain score), tear film (Schirmer test I, TFBUT), ocular surface damage (NEI score), meibography and tear protein analysis were measured.

Results : In 11 patients (35%) Dry Eye was diagnosed. Patients treated with ERT had a lower risk to develop Dry Eye but p>0.1. OSDI (12.4±15.2) and VAS (1.98±2.8) were normal on average. Schirmer test I (17.37±10.16) was normal in 64% of males and 59% of females. TFBUT (4.69±2.08) was abnormal in 100% of males and in 94% of females (p=0.02). We found a correlation between TFBUT and the presence of cornea verticillata (p=0.02), and between VAS and conjunctival vessel anomalies (p=0.01). Corneal (1.65±1.51) and conjunctival (3.73±2.93) NEI scores were normal on average, but a statistically significant difference was found between males and females (p<0.01). Meibomian glands appeared to be reduced (Pult Meiboscale, n.v. 0) both in upper (1.3±0.94) and lower (1.37±0.99) eyelids, with no significant difference between males and females (p>0.05). Tear protein analysis showed no changes in lactoferrin (1.29±0.64 vs ≥1.2mg/ml), lysozyme (2.08±0.73 vs ≥2.0mg/ml) and lypocalin C (1.19±0.65 vs ≥1.1mg/ml), while albumin exudate was increased (13.45±12.04, n.v.≤10% total proteins) and zinc-α2-glycoprotein was reduced (0.15±0.15 vs ≥0.4mg/ml).

Conclusions : Fabry disease causes progressive lipid infiltration and the ocular surface is a target tissue also because of the role of lipids in tear film stability. Our study, the first detailed analysis of ocular surface in these patients, showed reduced TFBUT, Meibomian glands’ drop-out and changes in tear proteins, although not severe ocular symptoms. Thus, a careful evaluation of the ocular surface is fundamental, in order to establish an appropriate management of this incurable but treatable lipid storage disease.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.


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