Article citationsMore>>

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

has been cited by the following article:

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

  AUTHORS: David Woo, Kenneth Ooi, Jennifer Sandbach, Fredrick Joshua

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

  JOURNAL NAME: Open Journal of Ophthalmology, Vol.3 No.3, August 7, 2013

  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.