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.
Highlights
Retinal vasculopathy is a rare complication of mixed connective tissue disease (MCTD)
Mixed connective tissue disease (MTCD) is a systemic condition immunologically characterised by the presence of T cells and autoantibodies against U1-ribonuclear peptide (U1RNP)
A 29-year-old anxious female with fragile-X syndrome (FXS) and MCTD presented with an acutely painful ischaemic left 3rd digit (Figure 1(a)) related to Raynaud’s phenomenon, and assorted digit splinter haemorrhages. She was referred to our service for screening prior to hydroxychloroquine commencement; and left thorascopic sympathectomy preoperative workup
Summary
Mixed connective tissue disease (MTCD) is a systemic condition immunologically characterised by the presence of T cells and autoantibodies against U1-ribonuclear peptide (U1RNP). 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). 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 has a background history of MCTD and FXS.
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