Retinopathy of Prematurity Differential Diagnoses

Updated: Feb 10, 2023
  • Author: Siva Subramanian, MD, FAAP; Chief Editor: Santina A Zanelli, MD  more...
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Diagnostic Considerations

The presence of congenital retinal abnormalities in low birth weight (LBW) infants is rare, but it can pose significant risks. Familial exudative vitreoretinopathy (FEVR) is an idiopathic retinal vascular abnormality that mimics late-stage retinopathy of prematurity (ROP). FEVR is caused by abnormal retinal vascular development leading to exudation, traction through the macula, and retinal detachment. Vitreous hemorrhage can result from birth trauma, primary and secondary coagulopathies, and Terson syndrome.

Infectious causes that may mimic ROP include Toxoplasma, Toxocara, and Herpesviridae, especially cytomegalovirus.

Late ROP, especially stage 5 (total retinal detachment), can lead to cataract formation. Other causes of lens opacity in the neonate include congenital cataract, FEVR, rubella, and other infections.

Retinoblastoma (RB) is a rare genetically-driven tumor that in a young infant would most likely have arisen from a germinal mutation (chromosome 13). Germinal mutations give rise to multifocal disease; thus, a young infant with RB should be evaluated and treated promptly, and the treating physicians must be alert to the possibility of new tumor development before the age of 1 year.

Media opacities (vitreous hemorrhage, cataract, corneal opacity) can be followed up using ocular ultrasonography performed by an experienced examiner. An injection of intravitreal bevacizumab can resolve vitreous hemorrhage and allow fundoscopic evaluation.

Differential Diagnoses