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Familial Exudative Vitreoretinopathy-Like Features in Stickler Type IV Associated with Novel Variants in COL9A1.

PURPOSE
To report a case of Stickler type IV with familial exudative vitreoretinopathy (FEVR) phenotype.


MATERIAL AND METHODS
Retrospective case report.


RESULTS
A 24-year-old female presented with right eye exotropia and decreased vision. She had no facial or typical retinal features of Stickler syndrome, but complained of right-sided hearing loss and right-sided neck pain. Examination of the right eye showed a chronic combined exudative and traction retinal detachment (E-TRD) with temporal retinal dragging associated with far temporal retinal exudations and fibrovascular proliferations. The left eye had an attached retina with large areas of peripheral temporal retinal non-perfusion on fluorescein angiography, sharply demarcated by end circulation vascular pruning and mild peripheral vascular leakage, consistent with familial exudative vitreoretinopathy (FEVR) phenotype. Genetic analysis identified two heterozygous c.1052C>A and c.1349A>G variants in COL9A1, but did not disclose any mutation in genes classically associated with FEVR.


CONCLUSION
FEVR-like retinal vascular features can be the presenting sign in patients with Stickler syndrome type IV.