Mixed Connective Tissue Disease Complicated by Retinal Microvasculopathy and Its Relationship with Fragile-X Syndrome

David Woo, Kenneth Ooi, Jennifer Sandbach, Fredrick Joshua

Department of Ophthalmology, Prince of Wales Hospital, Sydney, Australia..
Department of Ophthalmology, The Canberra Hospital, Canberra, Australia.

DOI: 10.4236/ojoph.2013.33017                

Abstract

Purpose: To report an unusual case of retinal microvasculopathy secondary to mixed connective tissue disease (MCTD) on a background history of fragile-X syndrome (FXS). Methods: Case report and literature review. Results: A cotton wool spot was discovered in a 29-year-old female who presented with an ischaemic digit secondary to Raynaud’s phenomenon. She also has a background history of MCTD and FXS. Fundus examination and automated perimetry findings were normal. Magnet resonance imaging and computed tomography aortogram did not demonstrate any evidence of vasculitis in the head and neck. She was tested positively for U1-ribonuclear peptide. Interestingly, the re-distribution of Fragile-X related gene 1 has been suggested to trigger autoimmune responses in experiments. This finding makes the case peculiar as it suggests an alternate explanation for this patient’s clinical findings. Conclusion: Retinal vasculopathy is a rare complication of MCTD. The background history of FXS potentially highlights an alternate autoimmune pathogenetic mechanism.

Keywords

Retinal Microvasculopathy; Mixed Connective Tissue Disease; Fragile-X-Syndrome

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1]	R. W. Hoffman and M. E. Maldonada, “Immune Pathogenesis of Mixed Connective Tissue Disease: A Short Analytical Review,” Clinical Immunology, Vol. 128, No. 1, 2008, pp. 8-17. doi:10.1016/j.clim.2008.03.461
[2]	A. Kraus, G. Cervantes, E. Barojas and D. A. Segovia “Retinal Vasculitis in Mixed Connective Tissue Disease. A Fluoroangiographic Study,” Journal of Rheumatology, Vol. 12, No. 6, 1985, pp. 1122-1144.
[3]	T. Mimura, T. Usui, S. Amano, S. Yamagami, K. Ono, H. Noma and H. Funatsu, “Retinal Vasculitis and Vitreous Hemorrhage Associated with Mixed Connective Tissue Disease: Retinal Vasculitis in MCTD,” International Ophthalmology, Vol. 26, Vol. 4-5, 2005, pp. 159-161.
[4]	Y. K. Kim, S. J. Woo, Y. J. Lee and K. H. Park, “Retinal Vasculopathy Associated with Mixed Connective Tissue Disease,” Ocular Immunology and Inflammation, Vol. 18, No. 1, 2010, pp. 13-15. doi:10.3109/09273940903402629
[5]	J. Bolívar, S. Guelman, C. Iglesias, et al., “The Fragile-X-Related Gene FXR1 Is a Human Autoantigen Processed during Apoptosis,” The Journal of Biological Chemistry, Vol. 273, No. 127, 1998, pp. 17122-17127. doi:10.1074/jbc.273.27.17122