Background: Patients affected with Familial Exudative vitreoretinopathy (FEVR) are the result of full term pregnancy. FEVR affects both eyes asymmetrically and patients usually present to the hospital at the age of 7. The mood of inheritance of FEVR can be autosomal dominant or recessive. FEVR is characterized by impairment of peripheral retina perfusion that can lead to retinal neuvascularization, subretinal exudate, and retinal detachment.

Case Presentation: Our patient presented to the Emergency department at the age of 9 weeks when his parents noticed red discoloration of the right eye pupil. The patient was born full term with no prenatal or postnatal complications and negative medical and surgical history. His parents reported that his siblings have a condition that affected their vision. Examination revealed a red colored mass on the pupil margin of the right eye, and total retinal detachment with mass located supra-temporally in the vitreous on fundus examination. The findings were also confirmed with B-scan. While there was flat retina in the left eye.

Conclusion: Our patient was finally diagnosed with FEVR based on examination, FFA and genetic testing which revealed an autosomal recessive inherited gene called LRP5.