Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome

Background: Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder with high genetic heterogeneity, and it is characterized by a defect in the development of the retinal vascular system. Loeys-Dietz syndrome (LDS) is an autosomal dominant systemic connective tissue disorder that is caused by mutations in the genes related to transforming growth factor signaling systems including the TGFBR2 gene. Two earlier studies reported that patients with LDS from mutations in the TGFBR2 gene were associated with FEVR-like retinal phenotype. The purpose of this study was to determine the characteristics of a case of FEVR without systemic abnormalities who had a mutation in the TGFBR2 gene. Materials and Methods: The clinical appearances and surgical outcomes were determined from the medical records. Genetic analysis was performed by whole exome sequencing. Results: A 15-year-old boy was diagnosed with FEVR by the appearance of the peripheral retina of both eyes and a retinal detachment in the left eye. Whole exome sequencing revealed a heterozygous deletion mutation in the TGFBR2 gene. A de novo mutation was confirmed by examining the family members. No systemic abnormalities were detected in the patient including those associated with LDS. Conclusions: FEVR can be associated with a TGFBR2 mutation without showing signs of LDS.

Automated summary

This study presented a case of a 15-year-old boy diagnosed with FEVR with a heterozygous deletion mutation in the TGFBR2 gene identified through whole exome sequencing. The presence of a de novo mutation in the absence of systemic abnormalities associated with LDS suggests that FEVR can be linked to TGFBR2 mutations independently of LDS.