Clinical and molecular aspects of congenital aniridia - A review of current concepts

Shailja Tibrewal, Ria Ratna, Abha Gour, Sumita Agarkar, Suneeta Dubey, Suma Ganesh, Ramesh Kekunnaya, Virender Sangwan, Yutao Liu, Vanita Vanita

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-onset cataract, glaucoma, and keratopathy. The latter three are reasons for further visual compromise in such patients. This entity is often due to mutations in the PAX6 (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis. In this review, we describe the various clinical features of classic aniridia, the comorbidities and their management, the mutation spectrum of the genes involved, genotype-phenotype correlation of PAX6 and non-PAX6 mutations, and the genetic testing plan. The various systemic associations and their implications in screening and genetic testing have been discussed. Finally, the future course of aniridia treatment in the form of drugs (such as ataluren) and targeted gene therapy has been discussed.

Original languageEnglish (US)
Pages (from-to)2280-2292
Number of pages13
JournalIndian Journal of Ophthalmology
Volume70
Issue number7
DOIs
StatePublished - Jul 2022

Keywords

  • Aniridia
  • PAX6
  • genetics
  • genotype
  • mutation
  • phenotype

ASJC Scopus subject areas

  • Ophthalmology

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