Ocular manifestations of a rare congenital heart defect: Advanced glaucoma and retinal vein occlusion associated with double-chambered right ventricle.

PURPOSE: To present a case of advanced glaucoma and central retinal vein occlusion (CRVO) linked to elevated episcleral venous pressure (ESVP) in the setting of double-chambered right ventricle (DCRV), a rare congenital cardiac anomaly.

OBSERVATION: A 40-year-old man presented with advanced bilateral glaucoma and longstanding light perception vision in the right eye due to CRVO and neovascular glaucoma. Examination revealed elevated intraocular pressures (IOP) and bilateral corkscrew episcleral vessels, consistent with elevated ESVP. Systemic workup uncovered erythrocytosis and an undiagnosed DCRV with severe right ventricular outflow tract obstruction. Despite medical therapy, progressive glaucoma in the left eye required surgical intervention with Xen gel stent implantation. Initial IOP control was achieved but later increased due to iris incarceration and bleb fibrosis, requiring surgical revision and implantation of a new Xen stent. The patient also underwent cardiac surgery to correct the congenital defect. After cardiac surgery and new Xen implantation, IOP stabilized at 10-12 mmHg without topical medications.

CONCLUSION & IMPORTANCE: Congenital cardiac anomalies such as DCRV can result in secondary glaucoma and CRVO. However, reports of ocular complications in patients with congenital heart disease remain limited, warranting heightened clinical awareness. This case illustrates the importance of evaluating systemic and cardiac causes in patients presenting with glaucoma secondary to elevated ESVP. Appropriate investigation can reveal life-altering diagnoses as seen in our patient where a cardiac anomaly was identified and necessitated surgical correction. Glaucoma management in this context is particularly challenging and this case illustrates the unique limitations and important considerations involved in both medical and surgical treatments.