Homocystinuria as a cause of ocular complications requiring surgical intervention Case report

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Adam Cywiński
Szymon Rzeźwicki
Łukasz Bednarski

Abstract

A 41-year-old man underwent surgery in both eyes due to diagnosed lens subluxation with significant decrease in visual acuity. In the left eye, an acute attack of angle-closure glaucoma caused by lens subluxation into the anterior chamber resulted in a combined procedure of lensectomy with posterior vitrectomy and silicone oil endotamponade due to iatrogenic retinal detachment. In the right eye, a procedure was performed to remove the subluxated natural lens with simultaneous intrascleral fixation of an artificial lens. During this procedure, the author’s “Vampire” technique was used to facilitate the removal of the practically subluxated natural lens and reduce the risk of vitreous loss. Due to intraoperative complications, the left eye required further surgical procedures. Silicone oil removal from this eye was combined with repeat diagnostic testing to identify the cause of lens subluxation. The cause was found to be previously undiagnosed homocystinuria.

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How to Cite
1.
Cywiński A, Rzeźwicki S, Bednarski Łukasz. Homocystinuria as a cause of ocular complications requiring surgical intervention. Ophthatherapy [Internet]. 2024Sep.30 [cited 2025Jan.21];11(3):307-13. Available from: https://journalsmededu.pl/index.php/ophthatherapy/article/view/3128
Section
Surgery and laser therapy

References

1. Eagle RC. Eye Pathology an Atlas and Text. 2nd ed. LWW, 2011.
2. Okulistyka dziecięca i zez. BCSC 6. Seria Basic and Clinical Science Course. Hautz W., Loba P., Rękas M. (eds.). Edra Urban & Partner, Wrocław 2021.
3. Cross HE, Jensen AD. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol. 1973; 75: 405-20.
4. Interna Szczeklika 2023/2024. Szczeklik A, Gajewski P (eds.). Medycyna Praktyczna, Kraków 2023.
5. Ministerstwo Zdrowia. Rządowy program badań przesiewowych noworodków w Polsce na lata 2019-2026 .
6. Mulvihill A, Yap SM, O’Keefe M et al. Ocular Findings Among Patients with Late-Diagnosed or Poorly Controlled Homocystinuria Compared with a Screened, Well-Controlled Population. J AAPOS. 2001; 5(5): 311-5.
7. Morris A, Kozich V, Santra S et al. Guidelines for the diagnosis and management of cystathionine beta synthase deficiency. J Inherit Metab Dis. 2017; 40: 49–74.
8. Yap S, Rushe H, Howard PM et al. The intellectual abilities of early-treated individuals with pyridoxine nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2001; 24(4): 437-47.
9. Yap S, Boers GH, Wilcken B et al. Vascular outcome in patients with homocystinuria due to cystathionine beta synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol. 2001; 21(12): 2080-5.
10. Son P, Lewis L. Hyperhomocysteinemia. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL) 2024.
11. Sacharow SJ, Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. In: GeneReviews®. Adam MP, Ardinger HH, Pagon RA et al. (eds). University of Washington, Seattle 1993-2021.
12. Moorfields Manual of Ophtalmology. Jackson TL (ed.). Mosby, 2019.
13. Oxford Handbook of Ophtalmology. Murray PI, Denniston AKO. OUP, Oxford 2018.
14. Soczewka i zaćma. BCSC 11. Seria Basic and Clinical Science Course. Rękas M (ed.). Edra Urban & Partner, Wrocław 2021.
15. Smulders YM, Blom HJ. The homocysteine controversy. J Inherit Metab Dis. 2011; 34: 93-9.
16. Nygård O, Refsum H, Ueland PM et al. Major lifestyle determinants of plasma total homocysteine distribution: the Hordaland Homocysteine Study. Am J Clin Nutr. 1998; 67: 263-70.
17. Cywiński A. Technika “Wampirza” w usunięciu soczewki własnej. [Video].
18. Bowling B. Okulistyka Kliniczna Kanski. 8th ed. [Polish] Szaflik J, Izdebska J (pol. ed.). Edra Urban & Partner, Wrocław 2017.
19. Orski M. Wpływ różnych czynników na ubytek komórek śródbłonka rogówki. Okulistyka po Dyplomie. 2014; 4.
20. Wirbelauer C, Anders N, Pham DT et al. Early postoperative endothelial cell loss after corneoscleral tunnel incision and phacoemulsification in pseudoexfoliation syndrome. Ophthalmologe. 1997; 94: 332-6.
21. Gaustadnes M, Wilcken B, Oliveriusova J et al. The molecular basis of cystathionine β-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat. 2002; 20: 117-26.
22. Gerding H. Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-β-synthetase deficiency. Eur J Pediatr. 1998; 157(S2): S94-101.
23. Harrison DA, Mullaney PB, Mesfer SA et al. Management of ophthalmic complications of homocystinuria. Ophthalmology. 1998; 105(10): 1886-90.