{Reference Type}: Case Reports
{Title}: Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in LRP5 and TSPAN12.
{Author}: Tsai ASH;Chan RVP;Blair MP;Shapiro MJ;
{Journal}: J Vitreoretin Dis
{Volume}: 8
{Issue}: 4
{Year}: 2024 Jul-Aug
暂无{DOI}: 10.1177/24741264241246864
{Abstract}: Purpose: To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course. Methods: A case was evaluated. Results: A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye. Aggressive treatment with retinal photocoagulation and repeated injections of intravitreal bevacizumab resulted in stability of the retinal disease. Lens-sparing vitrectomy was performed for the TRD. The treatment effect was durable, and the patient retained useful vision in the better eye at 19 years of age. A subsequent genetic analysis showed 2 novel heterozygous missense mutations in LRP5 and TSPAN12. Conclusions: The presence of 2 novel mutations associated with severe FEVR identified in our patient is in agreement with in vitro studies showing that a more severe reduction in Norrin/β-catenin signal activity occurs with the combination of 2 mutations.