Macular Retinal Pigment Epithelial Clumping Leading to a Diagnosis of FEVR

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by abnormal or incomplete retinal angiogenesis. The peripheral avascularity, irregular neovascularization, and vascular leakage seen in FEVR are similar to changes that may be seen in retinopathy of prematurity (ROP). The authors report a case of atypical macular pigment clumping leading to the diagnosis of ROPER ( ie, ROP vs FEVR) in a premature infant born at 23 weeks of gestation with a birth weight of 451 grams, who presented with atypical aggressive posterior ROP and a heterozygous variant in the LRP5 gene.

Automated summary

FEVR is a rare hereditary disorder characterized by abnormal or incomplete retinal angiogenesis, with similarities to ROP. This study reports a case of a premature infant with atypical macular pigment clumping, leading to a diagnosis of ROPER, and carrying a heterozygous variant in the LRP5 gene.