Congenital aniridia: European COST action ANIRIDIA-NET guidelines for diagnosis, management and care.

Abstract

Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated with the disease, such as cataract, keratopathy and optic nerve hypoplasia. Mutation in the PAX6 gene is the most common cause of congenital aniridia, but other causative mutations exist. The main ocular symptoms experienced by those with congenital aniridia are photophobia, glare, low visual acuity, dryness/irritation of the ocular surface and nystagmus. Management and follow-up of patients with congenital aniridia can be challenging due to the lack of effective therapeutic options and the complexity of ocular manifestations and outcomes. These guidelines for the diagnosis, management and care of congenital aniridia have been developed at the European level, thanks to ANIRIDIA-NET, based on a review of the scientific literature on clinical and molecular characterization, therapeutic options as well as non-medical approaches.