Persistent fetal vasculature (PFV), previously known as persistent hyperplastic primary vitreous, is a developmental malformation of the eyes that is caused by a failure of the hyaloid vasculature to regress in utero. PFV has been reported for decades; however, our understanding of the pathophysiology/pathogenesis of PFV, and the diagnostic and treatment modalities for PFV have evolved over time, and these advancements have improved diagnosis, treatment, and outcomes. However and in spite of these advancements, the heterogeneity of this disease continues to make PFV a diagnostic challenge. Here, we review what is currently known about various important aspects of PFV to update and enhance the knowledge of ophthalmologists who encounter and manage PFV in clinical practice.

Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed with both CP and DC caused by compound heterozygous CTC1 gene mutations. Moreover, one of the variant mutations found in this patient has never been published before.