Ocular phenotype: aniridia, congenital cataracts, nystagmus, foveal hypoplasia, high myopia.\nA 7-month-old boy presented with bilateral congenital cataract, aniridia, and nystagmus. He had no relevant family history and his parents were not consanguineous. He was able to fix and follow a small toy and he had horizontal nystagmus with left gaze torticollis (gaze towards the nystagmus’ nulls point). On anterior segment examination, he had bilateral anterior polar cataracts with rests of persistent pupillary membrane and complete aniridia. The fundus exam revealed bilateral foveal hypoplasia.\nAt 3 years old he had developed high myopia with a cycloplegic refraction of −10 diopters in both eyes, and his visual acuity was 0.1 on each eye using contact lenses. The examination remained otherwise unchanged and there were no signs of keratopathy or limbal insufficiency.\nMutation: PAX6: NM_001258462.3:c.1183+1G>A (chr11:31812257, hg19), heterozygous. ACMG criteria: pathogenic. Inheritance: de novo. This variant has been described as pathogenic by one submitter in ClinVar, accession: VCV000492996.1, and variation ID:492996 in four patients with aniridia 1.
Ocular phenotype: partial aniridia, nystagmus, posterior embryotoxon, foveal hypoplasia.\nA two-month-old boy was referred to our clinic for bilaterally dilated pupils. He had a family history of congenital nystagmus in his mother, his mother’s sisters, and his grandfather. He had a low amplitude high-frequency nystagmus. On examination, he had bilateral partial aniridia and posterior embryotoxon. The fundus examination revealed bilateral foveal hypoplasia. His intraocular pressure was normal. His cycloplegic refraction was −1 diopters in both eyes.\nMutation: PAX6:NM_001258462.3:c.395C>G:p.(Pro132Arg) (chr11:31823113, hg19) heterozygous. ACMG criteria: likely pathogenic. Inheritance: maternal. This variant has been described as pathogenic by Sonoda et al [] in a family with congenital nystagmus associated with a variant form of aniridia.