Clinical Features of Korean Patients with Congenital Aniridia

Abstract

PurposeTo investigate the clinical features of Korean patients with congenital aniridia.MethodsThis 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.ResultsThe 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.ConclusionsCongenital 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.

Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia

“…The clinical findings presented here corroborate what has been presented in literature regarding the broad spectrum of the ocular phenotype and the extent of intrafamilial and individual variability (1,2,4,8). In the family studied for this investigation, different degrees of iris hypoplasia (from total aniridia to misshapen pupil) were observed within family members and between the eyes of an affected individual, with the analyzed affected individuals presenting severe, progressive loss of vision.…”

Cataract development in Norwegian patients with congenital aniridia

“…Cataract is common in aniridia, with over 90% prevalence in our cohort, similar to a Korean cohort with 60 eyes where 88% had cataract or were operated for cataract (Park et al. 2010 ). Cataract prevalence in aniridia in the literature varies from 50 to 85% (Nelson et al.…”

“…2009 ; Park et al. 2010 ; He et al. 2012 ), the timing and detailed phenotype of cataract in aniridia have not been well described.…”

Congenital Aniridia: Long-term Clinical Course, Visual Outcome, and Prognostic Factors

“…Six eyes (32% of those with ocular hypertension, 40% of those who received cataract surgery) developed secondary ocular hypertension after intraocular surgeries. Park et al [ 21 ] also reported that deterioration of glaucoma was the main postoperative problem and was observed in 50% of patients after cataract surgery. Therefore, it is important to prepare for and manage secondary ocular hypertension after cataract surgery.…”