Familial exudative vitreoretinopathy presentation as persistent fetal vasculature

• Main Authors: Jeffrey Z. Kartchner, M. Elizabeth Hartnett
• Format: Article
• Language: English
• Published: Elsevier 2017-06-01
• Series: American Journal of Ophthalmology Case Reports
• Subjects: Familial exudative vitreoretinopathy; Exudative retinal detachment; Persistent fetal vasculature; Retinopathy; Leukocoria
• Online Access: http://www.sciencedirect.com/science/article/pii/S2451993616302304

Purpose: To illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that can be mistaken for persistent fetal vasculature (PFV) and the importance of wide angle fluorescein angiography in making this distinction. A patient was referred with a unilateral retrolental membrane and retinal detachment from PFV but was found to have FEVR. Observations: A 4 month-old full-term infant was referred with the diagnosis of PFV based on findings of a dense retrolental membrane and microphthalmia in the left eye. The patient had a near-complete retinal detachment with some exudation. Wide-field fluorescein angiography of the right eye revealed avascular retina and leakage at the vascular/avascular junction. Genetic testing confirmed a mutation in FZD4, supporting the clinical diagnosis of FEVR. Prompt laser therapy to the avascular area in the right eye was performed and lensectomy/vitrectomy with membrane dissection was performed in the left eye. Conclusions and importance: FEVR can present with great variability between eyes. In patients presenting with findings suggestive of PFV, careful bilateral examination with wide-field fluorescein angiography is helpful. Early diagnosis and treatment are important to preserve visual acuity, especially in the less affected eye.