ABSTRACT
Background
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by abnormal or incomplete retinal angiogenesis commonly inherited in an autosomal dominant fashion. Up to 50% of FEVR cases are linked to known genetic mutations affecting retinal vasculature development.
Purpose
To report a case, a novel pathogenic variant of the ZNF408 gene associated with a case of FEVR in a premature male.
Materials and methods
Case report
Results
A 10-month-old male who was born prematurely at 34 weeks’ gestation in the Dominican Republic was referred for persistent avascular retina. The baby was treated with bilateral intravitreal ranibizumab injections for retinopathy of prematurity (ROP) with the presence of plus disease. Fundus examination several months after treatment revealed the absence of tortuosity of the vessels with avascular periphery; fluorescein angiography (FA) confirmed peripheral avascularity and demonstrated irregular sprouts of vascularization in the absence of neovascularization. We performed genetic testing under the suspicion of FEVR and results identified a heterozygous mutation in the ZNF408 gene on chromosome 11, c.1307 C > T.
Conclusion
FEVR is an important differential diagnosis in premature infants with retinopathy, as clinical presentation can overlap with common findings in ROP. Maintaining high suspicion for the disease is especially critical in cases with findings unusual for ROP. FEVR in the presence of prematurity has been well described, falling under the proposed term ROPER. Genetic testing is key to confirm diagnosis.
Acknowledgments
The authors would like to thank Gisselle De Oliveira, photographer of the pediatric retina department at Bascom Palmer Eye Institute.
Disclosure statement
The authors report no financial or proprietary interest in any products or devices mentioned in this article.