Clinical Manifestation of Congenital Aniridia in Indonesia

Irawati Irfani,Primawita Oktarima,Feti K Memed,Levandi Mulja,Sesy Caesarya,Mayasari Wahyu

doi:10.4236/ojoph.2020.102015

Abstract

Background: Congenital aniridia is a rare, panophthalmic disorder that can cause vision loss. Knowledge of aniridia as an isolated ocular abnormality or as a part of systemic abnormalities is important. Management of congenital aniridia should be carried out comprehensively based on it. Objective: To describe clinical features and management of congenital aniridia in a top referral eye hospital in Indonesia. Methods: A retrospective study involving 43 eyes of 22 children (younger than 18 years) diagnosed with congenital aniridia from 2013 to 2018. A detailed history was taken and a complete ophthalmic examination and a systemic examination were performed as required. Clinical characteristics associated with ocular and systemic manifestation and its management were noted. Results: Mean age of patients was 7.6 ± 5.2 years (range 0 - 17 years). Most cases were female (55%) and sporadic (77%). Twenty-one (96%) patients had bilateral involvement at presentation. Foveal hypoplasia was found in 36 eyes (84%), followed by cataract in 26 eyes (61%) and secondary glaucoma in 13 eyes (30%). Nine patients (43%) with cataract had cataract surgery performed. Only 1 patient (5%) with secondary glaucoma underwent filtration surgery. All patients had moderate to severe visual impairment and low vision aid was considered. Regarding its systemic manifestation, none of the patients was diagnosed with an abnormality in the abdomen. Conclusion: There were various ocular features associated with congenital aniridia. Understanding the clinical characteristic and its management could improve the quality of vision in aniridia patients.

Highlights

Aniridia is a disorder categorized as rare or infrequently occurring by the National Organization for Rare Disorders, with an incidence of one in 50.000 100.000 live births [1] [2]
Congenital aniridia was observed in 43 eyes of 22 pediatric patients
The most common ocular abnormalities associated with aniridia were nystagmus (98% of eyes), foveal hypoplasia (84% of eyes), and cataract (60% of eyes)

Summary

Introduction

Aniridia is a disorder categorized as rare or infrequently occurring by the National Organization for Rare Disorders, with an incidence of one in 50.000 100.000 live births [1] [2]. Aniridia can be categorized into two groups: classic aniridia, associated with mutations in genes PAX6, and aniridia-like, associated with mutations in genes other than PAX6 Ocular findings for this condition include partial or near-total absence of iris, cataract, aniridia-associated keratopathy, glaucoma, foveal hypoplasia, optic disk hypoplasia, and nystagmus [2] [4]. The purpose of the present study was to describe the clinical features and management of congenital aniridia in the Cicendo National Eye Hospital (CNEH), which is the top referral eye hospital in Indonesia. Objective: To describe clinical features and management of congenital aniridia in a top referral eye hospital in Indonesia. Understanding the clinical characteristic and its management could improve the quality of vision in aniridia patients

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Discussion

Conclusion