Clinical outcomes and visual prognostic factors in congenital aniridia

Abstract

Background Evaluate outcomes and identify prognostic factors in congenital aniridia. Methods Retrospective interventional case series of patients with congenital aniridia treated between 2012–2020. Ocular examination and surgical details were collected. Surgical failure was defined as disease progression or need for additional surgery for same/related indication. Kaplan–Meier survival curves, Wilcoxon test, and univariate and multivariate linear regression analyses were performed. Results Ninety-four patients with congenital aniridia presented at median 19.0 years. Two-thirds of patients underwent ≥ 1intraocular surgery, with average of 1.7 ± 2.3 surgeries/eye. At final follow-up (median 4.0 years), 45% of eyes had undergone lensectomy. Aphakic eyes showed worse visual acuity (VA) than phakic or pseudophakic eyes. Glaucoma affected 52% of eyes, of which half required IOP-lowering surgery. Glaucoma drainage devices showed the highest success rate (71%) at 14.2 ± 15.4 years of follow-up. Keratopathy affected 65% of eyes and one-third underwent corneal surgery. Keratoprosthesis had the longest survival rates at 10-years (64% with 95% CI [32,84]). LogMAR VA at presentation and final follow-up were not statistically different. Half of patients were legally blind at final follow-up. Final VA was associated with presenting VA, glaucoma diagnosis, and cataract or keratopathy at presentation. Penetrating keratoplasty and keratoprosthesis implantation correlated with worse BCVA. Conclusions Most aniridic patients in this large US-based cohort underwent at least 1 intraocular surgery. Cataract, glaucoma, and keratopathy were associated with worse VA and are important prognostic factors to consider when managing congenital aniridia.

Glaucoma drainage devices in children: an updated review

“…GDD implants were the main choice of procedure and presented the best success rate (71%) (mean follow-up period: 14.2 ± 15.4 years). This study showed a better success rate of BGI (74%) compared to AGV (63%), but the latter presented less tube revision (62) .…”

“…In most studies, GDD was used after failure of the primary surgical approach (goniotomy or trabeculotomy). However, GDDs were employed as the first-line treatment in some cases in which angle surgeries have a high risk of failure, such as phakomatosis (59) , aphakic glaucoma (60,61) and aniridia (35,62) . Chen et al (13) evaluated AGV implanted as the first surgical approach in patients with PCG or JOAG (age <18 years), uveitic glaucoma, or secondary glaucoma.…”

“…Other recent studies investigated the results of GDD implants in different forms of secondary glaucoma (38,39,56,62) . In aniridia, glaucoma developed in 52% of eyes, half of which required IOP-lowering surgery.…”

Challenges in Surgical Intervention for a Rare Case of Anterior Segment Dysgenesis: A Case Report

“…Interestingly, they found that glaucoma drainage devices exhibited the highest success rate (71%) in controlling IOP over a long-term follow-up. 24 Chang et al also identified nystagmus and ocular hypertension as important prognostic factors for poor visual outcome in aniridia. Notably, they found a high rate of secondary ocular hypertension following cataract surgery, emphasizing the need for careful management.…”

Visual Acuity in Aniridia and WAGR Syndrome

“…Jacobson, Mian, and Bohnsack found a higher proportion of aniridia patients with legal blindness at presentation (38%), perhaps due to inclusion of WAGR subjects and more heterogeneous mutations of PAX6 in their subjects. 27 Our subjects with PAX6 deletions associated with WAGR spectrum disorder had worse visual efficiency values than aniridia subjects with nonsense mutations, with the majority of the Limitations of this study include potential for investigator bias in selection and review of subjects, which is a general problem in retrospective studies and was likely reduced by de-personalizing the data. The search of electronic records may not have identified all eligible subjects, and the number of patients may not have been sufficiently large to detect all differences between groups.…”