Abstract
AbstractAniridia is a congenital complex ocular malformation characterized by complete or partial iris hypoplasia and foveal hypoplasia, resulting in nystagmus and low visual acuity from early infancy. In the majority of cases, aniridia is caused by the loss of function of one functional copy (haploinsufficiency) of the PAX6 protein resulting from mutations in PAX6 gene or chromosomal rearrangement at the 11p13 locus. High‐resolution foveal imaging by spectral‐domain optical coherence tomography (SD‐OCT) has improved over recent years the evaluation of foveal architecture analyze. We have analyzed foveal anomalies on SD‐OCT in a large cohort (89 patients) of aniridia patients. We have shown that the grade of foveal hypoplasia is correlated to visual acuity. We have also shown that foveal hypoplasia is a constant finding in PAX6 aniridia patients, although iris defects could vary from complete aniridia to slight iris defects, even in the same family. Foveal imaging and grading by SD‐OCT could offer a non‐invasive tool to determine the visual potential of aniridia eyes and indicate further investigations or treatments. Additionally, SD‐OCT could contribute in the diagnosis of congenital aniridia by detecting foveal hypoplasia as the first sign of the disease.
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