Derya DOĞANAY, Yasemin KATİRCİOGLU, Gozde ORMAN

Aniridi ile İlişkili Konjenital Glokomlu Bir Olguda Alt Kapak Epiblefaron Cerrahisi: Olgu Sunumu

Aniridi, kromozom 11p13 üzerinde bulunan PAX6 genindeki bozukluğa bağlı gelişen kısmı veya tam iris defektidir. Aniridiye konjenital katarakt, konjenital glokom, keratopati veya foveal aplazi gibi oküler anomaliler eşlik edebilir. Epiblefaronun etyopatojenezi tam olarak bilinmemektedir. Bununla beraber epiblefaron etyopatogenezinde konjenital cilt katlanma anomalisi ve alt kapak retraktörlerinin yanlış yapılanması olduğu düşünülmektedir. Karotiko-kavernöz fistül, tiroid oftalmopati, megalo-oftalmi ve konjenital glokom gibi oftalmolojik hastalıklarla birlikteliği bildirilmiştir. Bu çalışmada aniridiye bağlı konjenital glokom ile takipli Doğu-Asyalı dört yaş erkek olguda gelişen epiblefaronun tanı ve tedavisinin sunulması amaçlandı. Özgeçmişinde atrial septal defekt bulunan hastanın her iki gözünde alt kapakta epiblefaron, aniridi, mikrosferofaki ve katarakt mevcuttu. Bu olguya epiblefaron nedeniyle alt kapak retraktörleri ile orbiküler kası hedef alan cerrahi teknik uygulandı.

Anahtar Kelimeler:

Epiblefaron, konjenital glokom, aniridi, mikrosferofaki, Epiblefaron, konjenital glokom, aniridi, mikrosferofaki

Lower Lid Epiblepharon Surgery in a Case with Congenital Glaucoma Associated with Aniridia: Case Report

Aniridia is complete or partial iris defect that develops due to a defect in the PAX6 gene located on chromosome 11p13. Aniridia may be accompanied by ocular findings such as congenital cataract, congenital glaucoma, keratopathy or foveal aplasia. Epiblepharon is congenital eyelid anomaly with fully unknown etiopathogenesis. However, in the etiology of epiblepharon is thought that congenital skin fold anomaly and wrongly structured lower eyelid retractors. Its association with ophthalmologic diseases such as caroticocavernous fistula, thyroid ophthalmopathy, megalo ophthalmia and congenital glaucoma has also been reported. In this study, we aimed to present the diagnosis and treatment of epiblepharon developed in an East-Asian four-year-old male patient with congenital glaucoma due to aniridia. The patient had a history of atrial septal defect and had epiblepharon, aniridia, microspherophacia and cataract on both eyes. Surgical technique targeting the orbicular muscle with lower eye lid retractors was applied to this case due to epiblepharon.

Keywords:

Epiblefaron, konjenital glokom, aniridi, mikrosferofaki, Epiblefaron, konjenital glokom, aniridi, mikrosferofaki,

PDF

___

Referans 1 Woo KI, Yi K, Kim YD. Surgical correction for lower lid epiblepharon in Asians. Br J Ophthalmol. 2000; 84: 1407-10.
Referans 2 Lee H, Khan R, O'Keefe M. Aniridia: current pathology and management. Acta Ophthalmol. 2008; 86: 708-15.
Referans 3 Wiggins RE Jr, Tomey KF. The results of glaucoma surgery in aniridia. Arch Ophthalmol. 1992; 110: 503-505.
Referans 4 Soyugelen Demirok G, Ekşioğlu Ü, Yakın M ve ark. Short- and Long-term Results of Glaucoma Valve Implantation for Aniridia-related Glaucoma: A Case Series and Literature Review. Turk J Ophthalmol. 2019; 49: 183-187.
Referans 5 Kim N, Yoo YJ, Choung HK et al. Epiblepharon in congenital glaucoma: case-control study. Br J Ophthalmol. 2017; 101: 1654-1657. Referans 6 Zhao J, Hodgson NM, Chang JR et al. Thyroid Eye Disease-Related Epiblepharon: A Comparative Case Study. Asia Pac J Ophthalmol (Phila). 2020; 9: 44-47.
Referans 7 Por YM, Fong KS. Lower lid epiblepharon as the presenting feature of spontaneous dural carotid cavernous fistula in an Asian patient. Orbit. 2005; 24: 265-8.
Referans 8 Nair AG, Agashe PM, Doshi A. Epiblepharon in a Case of Anterior Megalophthalmos: A Diagnostic Red Herring. 2021 Apr 5; 13(4): e14304. doi: 10.7759/cureus.14304.
Referans 9 DaCosta J, Brookes J. Infantile glaucoma in Rubinstein-Taybi syndrome.Eye (Lond). 2012; 26: 1270-71.
Referans 10 Asamura S, Nakao H, Kakizaki H et al. Is it truly necessary to add epicanthoplasty for correction of the epiblepharon? J Craniofac Surg. 2013; 24: 1137-1140.
Referans 11 Choe JY, Kim N. Secondary localized corneal amyloidosis caused by lower eyelid epiblepharon. Can J Ophthalmol. 2015; 50: 67-69.
Referans 12 Woo KI, Kim YD. Management of epiblepharon: state of the art. Curr Opin Ophthalmol. 2016; 27: 433-8.