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: nystagmus, foveal hypoplasia, aniridia-related keratopathy.\nA 29-year-old woman, related to case 2 (aunt), followed in our clinic for nystagmus, foveal hypoplasia, and limbal insufficiency. Her visual acuity was 0.16 on her right eye and 0.1 on her left eye. On examination, she had severe limbal insufficiency in both eyes with peripheral and central aniridia-related keratopathy grade 3 []. The iris morphology was normal in both eyes. The intraocular pressure was normal and on the fundus exam, she had bilateral foveal hypoplasia.\nMutation: PAX6:NM_001258462.3):c.395C>G:p.(Pro132Arg) (chr11:31823113, hg19) heterozygous. ACMG criteria: likely pathogenic. Inheritance: paternal. This variant has been described as pathogenic by Sonoda et al [] in a family with congenital nystagmus associated with a variant form of aniridia.