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.