Congenital retinal folds

Congenital retinal folds (CRFs) are a rare entity, with an incompletely understood pathogenesis. They are often associated with ocular conditions such as familial exudative vitreoretinopathy (FEVR). We present a series of 5 patients with unilateral CRFs who underwent genetic testing. Mutations were identified in 4 patients: FZD4 and TSPAN12, both associated with FEVR, and IMPDH1 and PEX1, whose roles in CRF are unclear. Four patients presented with strabismus, all of whom underwent surgical intervention. Two patients developed tractional retinal detachments that necessitated vitrectomy. Visual outcomes were generally poor, with final visual acuity ranging from 20/600 to no light perception. This series underscores the importance of genetic testing in CRF cases, particularly for assessing familial risk, although the genetic basis remains inconclusive. Patients should be closely monitored for complications such as retinal detachment.