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.
Cite this paper
D. Woo, K. Ooi, J. Sandbach and F. Joshua, "Mixed Connective Tissue Disease Complicated by Retinal Microvasculopathy and Its Relationship with Fragile-X Syndrome," Open Journal of Ophthalmology, Vol. 3 No. 3, 2013, pp. 70-72. doi: 10.4236/ojoph.2013.33017.
 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.
 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.
 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.
 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
 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.