Congenital fibrovascular pupillary membrane with secondary glaucoma and associated fundus anomalies: a case report and literature review

Abstract Background Congenital fibrovascular pupillary membrane (CFPM) is a rare unilateral congenital anterior segment dysplasia, mainly characterized by the presence of fibrous vascular membrane-like tissue in the pupil area. This membrane can obstruct the pupil, impede aqueous humor circulation, and progress to severe secondary glaucoma. This report describes a rare case of CFPM-induced secondary glaucoma coexisting with fundus anomalies. Case presentation A 5-month-old female infant presented with right eye photophobia and epiphora, which had developed 20 days prior. Ophthalmological examination revealed the following: right eye intraocular pressure (IOP) 27.4 mmHg, corneal opacity and enlargement, near-complete absence of the anterior chamber, occluded pupillary membrane, and other intraocular structures were not visible. The left pupil was mildly irregular in shape, but the remaining ocular structures were unremarkable. B-scan ultrasonography demonstrated a deep, localized excavation of the posterior globe in the right eye. The patient was diagnosed with secondary glaucoma (right eye) and congenital fibrovascular pupillary membrane (right eye). Surgical intervention was performed under general anesthesia, comprising pupillary membrane resection, pupiloplasty, trabeculotomy and trabeculectomy in the right eye. Histopathological examination of the excised tissue revealed fibrovascular proliferation, consistent with congenital vascular fibrous pupillary membrane. Genetic testing revealed no pathogenic variants. At the 17-month postoperative follow-up, the right eye had an IOP of 10 mmHg without no membrane recurrence. Fundus photography of the right eye revealed a pale optic disc with an enlarged cup-to-disc ratio, indistinct retinal vessels, a large excavation involving the optic disc and surrounding tissues with patchy pigmentation within them, and two focal white lesions in the inferior retina that appeared scleral. Conclusion We report a clinically rare case of CFPM-induced secondary glaucoma, with concurrent fundus anomalies. Comprehensive ophthalmic evaluation is essential for CFPM patients, with attention to the possibility of posterior segment involvement. For severe cases, timely surgical intervention is recommended to preserve intraocular anatomical structures, with emphasis on long-term postoperative follow-up and the management of complications.