Clinical spectrum of persistent fetal vasculature

Purpose: To describe the varied clinical presentations, ocular associations, imaging characteristics, and complications of persistent fetal vasculature (PFV) in an observational series from a tertiary eye care center.

Methods: A retrospective observational analysis was performed on patients diagnosed with PFV presenting to a tertiary ophthalmic center. Clinical examination, slit-lamp biomicroscopy, fundus evaluation, ultrasonography, axial length assessment, and multimodal imaging findings were reviewed. Cases demonstrating anterior, posterior, and combined PFV phenotypes across pediatric and adult age groups were included.

Results: Eight patients with diverse manifestations of PFV were identified. Presentations ranged from incidental Mittendorf dot detected intraoperatively during cataract surgery to severe congenital anomalies associated with microphthalmos, cataract, glaucoma, leukocoria, vitreous hemorrhage, and retinal traction.

A 24-year-old male presented with exertion-induced vitreous hemorrhage due to rupture of a persistent hyaloid vessel extending from the optic disc to the posterior lens capsule, with visual improvement following spontaneous hemorrhage clearance. Another adult female demonstrated posterior PFV with a stalk extending from the optic disc to the posterior lens surface despite normal axial length and corneal diameter.

Pediatric presentations included unilateral microphthalmos with anterior PFV-associated angle-closure glaucoma, congenital cataract with high hyperopia (+16.5 D), and posterior-predominant PFV associated with optic nerve head drusen in the fellow eye. Additional findings included elongated ciliary processes, lens subluxation, leukocoria, persistent fibrovascular stalks, retinal whitening, and anisometropic amblyopia.

One patient demonstrated unusual floral iris morphology with Mittendorf dot cataract and pedunculated hyaloid remnants producing a flower-like configuration within the vitreous cavity. Imaging with B-scan ultrasonography confirmed persistent retrolental stalks extending to the optic nerve head in multiple cases.

Conclusion: PFV demonstrates a broad and heterogeneous clinical spectrum extending beyond classical infantile leukocoria. Adult presentations, isolated persistent hyaloid remnants, secondary glaucoma, vitreous hemorrhage, cataract, and atypical congenital associations may occur. Careful bilateral examination and multimodal imaging are essential for identifying subtle or asymmetric forms of PFV. This series highlights the phenotypic diversity of PFV and expands its recognized clinical presentations.