Macular involvement in congenital aniridia

Arch Soc Esp Oftalmol. 2021 Mar 15:S0365-6691(21)00007-1. doi: 10.1016/j.oftal.2020.11.025. Online ahead of print.ABSTRACTThis review updates the knowledge about the morphological assessment of the foveal hypoplasia in Congenital Aniridia and resumes the reported genotype-phenotype correlations known to date. Congenital Aniridia is a pan ocular disease. Although iris absence is considered the hallmark of this entity, foveal hypoplasia is present in 94.7-84% of patients. A foveal morphology assessed by optical coherence tomography in which external retina structures can be identified, with presence of the lengthening of photoreceptors outer segment and a greater external retinal thickness, is associated with a better visual outcome, regardless a foveal pit is identified or not. This analysis can be performed once the external retina has completed its differentiation, by 6 years old. PAX6 mutations that introduce premature termination codon, C terminal extension or PAX6 involving deletions have been related to lesser foveal differentiation. Better foveal differentiation has been associated to non-coding PAX6 mutations.PMID:33736873 | DOI:10.1016/j.oftal.2020.11.025

Source: Archivos de la Sociedad Espanola de Oftalmologia - March 19, 2021 Category: Opthalmology Authors: P Casas-Llera D Ruiz-Casas J L Ali ó Source Type: research