Clinical Features of Korean Patients with Congenital Aniridia
2
조회
0
다운로드
2
인용
0
참고문헌
키워드
초록
Purpose: To investigate the clinical features of Korean patients with congenital aniridia. Methods: This retrospective study focused on 60 eyes from 31 patients who were diagnosed with congenital aniridia at Kangnam St. Mary’s Hospital from 1996 to 2007. Patient age, gender, visual acuity (VA), family history, and previous ocular history were recorded. The presence of keratopathy, glaucoma, cataract, foveal hypoplasia, and other ocular or systemic anomalies were evaluated for each patient. Results: The proportion of sporadic cases was 29.0%. Cataract (82.5%), glaucoma (51.6%), keratopathy (71.6%),and foveal hypoplasia (81.8%) commonly accompanied aniridia. Thirty-four (60.7%) eyes had VAs less than 20/200 and 20 eyes (35.7%) had VAs between 20/200 and 20/60. In patients without a past history of ocular surgery,the mean central corneal thickness was 643.05 ± 37.67 μm and the mean endothelial cell count was 3,349.44 ± 408.17 cells/mm2. Ocular surface surgeries were performed in 6 eyes. The clarity of the transplanted corneal graft vanished in 5 eyes with the progression of peripheral neovascularization and subepithelial fibrosis. The mean age of cataract surgery in 8 eyes was 29.8 ± 5.9 years. Postoperative worsening of corneal clouding and glaucomatous damage were observed in 4 eyes. Two infants had bilateral congenital glaucoma. Two children with sporadic aniridia were identified to have Wilm’s tumors. Conclusions: Congenital aniridia is a progressive congenital disorder that is commonly accompanied by complications that can lead to impaired vision. Regular, careful examinations for these accompanying complications should be performed in all patients with congenital aniridia.
Abstract
Purpose: To investigate the clinical features of Korean patients with congenital aniridia. Methods: This retrospective study focused on 60 eyes from 31 patients who were diagnosed with congenital aniridia at Kangnam St. Mary’s Hospital from 1996 to 2007. Patient age, gender, visual acuity (VA), family history, and previous ocular history were recorded. The presence of keratopathy, glaucoma, cataract, foveal hypoplasia, and other ocular or systemic anomalies were evaluated for each patient. Results: The proportion of sporadic cases was 29.0%. Cataract (82.5%), glaucoma (51.6%), keratopathy (71.6%),and foveal hypoplasia (81.8%) commonly accompanied aniridia. Thirty-four (60.7%) eyes had VAs less than 20/200 and 20 eyes (35.7%) had VAs between 20/200 and 20/60. In patients without a past history of ocular surgery,the mean central corneal thickness was 643.05 ± 37.67 μm and the mean endothelial cell count was 3,349.44 ± 408.17 cells/mm2. Ocular surface surgeries were performed in 6 eyes. The clarity of the transplanted corneal graft vanished in 5 eyes with the progression of peripheral neovascularization and subepithelial fibrosis. The mean age of cataract surgery in 8 eyes was 29.8 ± 5.9 years. Postoperative worsening of corneal clouding and glaucomatous damage were observed in 4 eyes. Two infants had bilateral congenital glaucoma. Two children with sporadic aniridia were identified to have Wilm’s tumors. Conclusions: Congenital aniridia is a progressive congenital disorder that is commonly accompanied by complications that can lead to impaired vision. Regular, careful examinations for these accompanying complications should be performed in all patients with congenital aniridia.
참고문헌 (22)
- Prosser J, "PAX6 mutations reviewed", Hum Mutat, 11, pp.93~108 (1998)
- Hill RE, "Molecular genetics of the Pax gene family", Curr Opin Cell Biol, 4, pp.967~972 (1992)
- Macdonald R, "Pax proteins and eye development", Curr Opin Neurobiol, 6, pp.49~56 (1996)
- Holland EJ, "Management aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique", Ophthalmology, 110, pp.125~130 (2003)
- Tremblay F, "Effects of PAX6 mutations on retinal function: an electroretinographic study", Am J Ophthalmol, 126, pp.211~218 (1998)
- Nelson LB, "Aniridia. A review", Surv Ophthalmol, 28, pp.621~642 (1984)
- Shaw MW, "Congenital aniridia", Am J Hum Genet, 12(4 Pt 1), pp.389~415 (1960)
- Park YG, "4 cases of congenital aniridia", J Korean Ophthalmol Soc, 18, pp.419~422 (1977)
- Ahn SK, "A case of congenital aniridia", J Korean Ophthalmol Soc, 30, pp.815~818 (1989)
- Park SJ, "Implantation of blackdiaphragm intraocular lens in cataract surgery with congenital aniridia", J Korean Ophthalmol Soc, 39, pp.1748~1754 (1998)
- 김종호, "선천무홍채증 환자의 PAX6 유전자의 돌연변이와 임상양상", 대한안과학회지, 49(11), pp.1794~1800 (2008), 대한안과학회
- Eden U, "Aniridia among children and teenagers in Sweden and Norway", Acta Ophthalmol, 86, pp.730~734 (2008)
- Lopez-Garcia JS, "Congenital aniridia keratopathy treatment", Arch Soc Esp Oftalmol, 81, pp.435~444 (2006)
- Weiss JS, "Specular microscopy in aniridia", Cornea, 6, pp.27~31 (1987)
- Muir KW, "Central corneal thickness: congenital cataracts and aphakia", Am J Ophthalmol, 144, pp.502~506 (2007)
- Lee H, "Aniridia: current pathology and management", Acta Ophthalmol, 86, pp.708~715 (2008)
- Lopez-Garcia JS, "Autologous serum eyedrops in the treatment of aniridic keratopathy", Ophthalmology, 115, pp.262~267 (2008)
- Brauner SC, "Aniridia", Int Ophthalmol Clin, 48, pp.79~85 (2008)
- Tsai JH, "A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia", Am J Ophthalmol, 142, pp.1075~1079 (2005)
- Reinhard T, "Black diaphragm aniridia intraocular lens for congenital aniridia: long-term follow-up", J Cataract Refract Surg, 26, pp.375~381 (2000)
- Grant WM, "Progressive changes in the angle in congenital aniridia, with development of glaucoma", Am J Ophthalmol, 78, pp.842~847 (1974)
- Swanner JC, "Prevention of aniridic glaucoma with goniosurgery", Int Ophthalmol Clin, 44, pp.67~71 (2004)