Therapeutic approach to ocular coloboma - a case report of a 37-year-old patient with high myopia and choroidal coloboma of the right eye | OphthaTherapy. Therapies in Ophthalmology

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Published: Jun 17, 2024

DOI: https://doi.org/10.24292/01.OT.061624

Keywords:

coloboma, high myopia, visual evoked potentials, VEP

Klaudia Szala

Students’ Scientific Society, Department of Ophthalmology, Faculty of Medical Sciences,

http://orcid.org/0009-0007-7715-8024

Sebastian Sirek

1. Department of Ophthalmology, Faculty of Medical Sciences, Medical University of Silesia. 2. Department of Adult Ophthalmology, Prof. Kornel Gibiński University Clinical Center, Medical University of Silesia

https://orcid.org/0000-0002-3138-3011

Dorota Wyględowska-Promieńska

1. Department of Ophthalmology, Faculty of Medical Sciences, Medical University of Silesia. 2. Department of Adult Ophthalmology, Prof. Kornel Gibiński University Clinical Center, Medical University of Silesia

https://orcid.org/0000-0001-5336-3460

Abstract

Introduction: Coloboma is a congenital malformation caused by a defect of optic fissure closure. We report a rare case of choroidal coloboma and management of possible complications.

Clinical case: A 37-year-old patient presented for the current evaluation of uveal coloboma located in the inferior-nasal quadrant with the involvement of the optic disc and advanced high myopia.

Conclusions: The management of coloboma includes follow-up of visual acuity level, anterior segment and fundus evaluations. Retinal detachment, cataract and choroidal neovascularization may occur secondary to the defect. Pars plana vitrectomy, autologous neurosensory retinal transplantation and laser therapy are considered methods in present case.

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1.

Szala K, Sirek S, Wyględowska-Promieńska D. Therapeutic approach to ocular coloboma - a case report of a 37-year-old patient with high myopia and choroidal coloboma of the right eye. Ophthatherapy [Internet]. 2024Jun.17 [cited 2024Dec.21];11(2):185-90. Available from: https://journalsmededu.pl/index.php/ophthatherapy/article/view/2949

Issue

Vol 11 No 2 (2024)

Section

Surgery and laser therapy

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Address reprint requests to: Medical Education, Marcin Kuźma (marcin.kuzma@mededu.pl)

References

1. Gregory-Evans CY, Williams MJ, Halford S et al. Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet. 2004; 41(12): 881-91. https://doi.org/10.1136/JMG.2004.025494.
2. ALSomiry AS, Gregory-Evans CY, Gregory-Evans K. An update on the genetics of ocular coloboma. Hum Genet. 2019; 138(8-9): 865-80. https://doi.org/10.1007/S00439-019-02019-3.
3. Warburg M. Classification of microphthalmos and coloboma. Med Genet. 1993; 30: 664-9. https://doi.org/10.1136/jmg.30.8.664.
4. Lingam G, Sen AC, Lingam V et al. Ocular coloboma – a comprehensive review for the clinician. Eye. 2021; 35(8): 2086-109. https://doi.org/10.1038/s41433-021-01501-5.
5. Hussain RM, Abbey AM, Shah AR et al. Chorioretinal Coloboma Complications: Retinal Detachment and Choroidal Neovascular Membrane. J Ophthalmic Vis Res. 2017; 12(1): 3. https://doi.org/10.4103/2008-322X.200163.
6. Selzer EB, Blain D, Hufnagel RB et al. Review of evidence for environmental causes of uveal coloboma. Surv Ophthalmol. 2022; 67(4): 1031-47. https://doi.org/10.1016/J.SURVOPHTHAL.2021.12.008.
7. Ogawa GSH. Congenital iris coloboma repair with excision of colobomatous sphincter muscle. J Cataract Refract Surg. 2021; 47(8): 1088-91. https://doi.org/10.1097/J.JCRS.0000000000000440.
8. Onwochei BC, Simon JW, Bateman JB et al. Ocular Colobomata. Surv Ophthalmol. 2000; 45(3): 175-94. https://doi.org/10.1016/S0039-6257(00)00151-X .
9. Hocaoglu M, Karacorlu M, Ersoz MG et al. Outcomes of vitrectomy with silicone oil tamponade for management of retinal detachment in eyes with chorioretinal coloboma. Retina. 2019; 39(4): 736-42. https://doi.org/10.1097/IAE.0000000000002014.
10. Hanneken A, de Juan E, McCuen BW. The Management of Retinal Detachments Associated With Choroidal Colobomas by Vitreous Surgery. Am J Ophthalmol. 1991; 111(3): 271-5. https://doi.org/10.1016/S0002-9394(14)72309-8.
11. Ramezani A, Dehghan MH, Rostami A et al. Outcomes of Retinal Detachment Surgery in Eyes with Chorioretinal Coloboma. Original Article. J Ophthalmic Vis Res. 2010; 5(4): 240-5.
12. Shenoy P, Katre PS, Kohli GM et al. Coloboma associated retinal detachment: Anatomical and functional results in the era of microincision vitrectomy surgery with an evaluation of risk factors for a recurrence. Indian J Ophthalmol. 2022; 70(7): 2498-504. https://doi.org/10.4103/ijo.IJO_2615_21.
13. Pal N, Azad R, Sharma Y. Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. Indian J Ophthalmol. 2006; 54(2): 85-8. https://doi.org/10.4103/0301-4738.25827.
14. Wei Y, Li Y, Chen F. Vitrectomy treatment of retinal detachments related to choroidal coloboma involving the disk. Retina. 2014; 34(6): 1091-5. https://doi.org/10.1097/IAE.0000000000000088.
15. Temmerman IM, Mahmoud TH, Veckeneer MAH. Autologous neurosensory retinal transplant to treat refractory serous retinal detachment secondary to optic disk coloboma. Retin Cases Brief Rep. 2022; 16(5): 606-9. https://doi.org/10.1097/ICB.0000000000001031.
16. Uhumwangho OM, Jalali S. Chorioretinal coloboma in a paediatric population. Eye. 2014; 28(6): 728. https://doi.org/10.1038/EYE.2014.61.
17. Spitzer M, Grisanti S, Bartz-Schmidt KU et al. Choroidal neovascularization in retinochoroidal coloboma: thermal laser treatment achieves long-term stabilization of visual acuity. Eye. 2006; 20(8): 969-72. https://doi.org/10.1038/SJ.EYE.6702081.
18. Lee SH, Ahn JK, Yu HG. The Development of Recurrent Choroidal Neovascularization in a Patient with Choroidal Coloboma. Korean J Ophthalmol. 2011; 25(1): 63-5. https://doi.org/10.3341/KJO.2011.25.1.63.