Secondary open-angle glaucoma and systemic manifestations in a patient with unrepaired tetralogy of Fallot
DOI:
https://doi.org/10.18203/2320-6012.ijrms20263554Keywords:
Tetralogy of fallot, Secondary open-angle glaucoma, Cyanotic congenital heart disease, Ocular complicationsAbstract
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. We report a rare case of secondary open-angle glaucoma in a 20-year-old male with longstanding, uncorrected TOF. The patient presented with 6 months of progressive bilateral vision loss. Ocular examination revealed prominent conjunctival vessel engorgement, elevated intraocular pressure, advanced glaucomatous optic neuropathy with increased cup-to-disc ratios, and significant retinal nerve fiber layer thinning. Notable systemic features included severe digital clubbing, skeletal deformities, congenital ear anomalies with hearing loss, short stature and hypogonadism. Prompt initiation of anti-glaucoma therapy successfully normalized intraocular pressure. This case underscores the importance of routine ophthalmic screening in patients with cyanotic congenital heart disease to detect and manage vision-threatening complications early.
References
Apitz C, Webb GD, Redington AN. Tetralogy of Fallot. Lancet. 2009;374(9699):1462-71.
Hoffman JIE, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39(12):1890-900.
Cordina R, Leaney J, Golzan M, Grieve S, Celermajer DS, Graham SL. Ophthalmological consequences of cyanotic congenital heart disease: vascular parameters and nerve fibre layer. Clin Exp Ophthalmol. 2015;43(2):115-23.
Prasad A, Kumar P, Raj A, Nayak Y. Conjunctival congestion: a novel clinical sign in older children with Tetralogy of Fallot. Discoveries (Craiova). 2022;10(3):e154.
Mansour AM, Bitar FF, Traboulsi EI, Kassak KM, Obeid MY, Megarbane A, et al. Ocular pathology in congenital heart disease. Eye (Lond). 2005;19(1):29-34.
Tsai FF, Spindle JD, Lazzaro EC, Olumba KC. Central retinal artery occlusion in a patient with tetralogy of Fallot. J AAPOS. 2013;17(6):621-2.
Altun A, Kurna SA, Bozkurt E, Erdogan G, Altun G, Olcaysu OO, et al. Bilateral persistent pupillary membrane with tetralogy of Fallot: a case report and review of the literature. Case Rep Ophthalmol Med. 2014;2014:581273.
Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90(3):262-7.
Chen SC, D'Souza ND. Familial tetralogy of Fallot and glaucoma. Am J Med Genet. 1990;37(1):40-1.
Oechslin E, Kiowski W, Schindler R, Bernheim A, Julius B, Brunner-La Rocca HP. Systemic endothelial dysfunction in adults with cyanotic congenital heart disease. Circulation. 2005;112(8):1106-12.
Stoner A, Harris A, Oddone F, Belamkar A, Verticchio Vercellin AC, Shin J, et al. Topical carbonic anhydrase inhibitors and glaucoma in 2021: where do we stand? Br J Ophthalmol. 2022;106(10):1332-7.
Maeda J, Yamagishi H, Matsuoka R, Ishihara J, Tokumura M, Fukushima H, et al. Frequent association of 22q11.2 deletion with tetralogy of Fallot. Am J Med Genet. 2000;92(4):269-72.
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Copyright (c) 2026 Habiba Sultana, Khairul Islam, M. Najmul Hoque, M. Sajidul Huq, M. Rezwanul Hasan, Nusrat Islam

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