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: microphthalmia, congenital cataracts, nystagmus.\nSystemic phenotype: microcephaly.\nA two-and-a-half-month-old girl was referred to our clinic for bilateral congenital cataracts. On examination, her visual acuity was at least light perception and she had low amplitude nystagmus. On the anterior segment exam, she had bilateral dense anterior cataracts that hindered the retinal examination. Her iris configuration was normal. An ultrasound revealed a normal posterior pole with an axial length of 16 mm in both eyes. She had a bilateral lensectomy without intraocular lens (IOL) insertion at 3 months old. She was referred to the pediatrician who noted microcephaly with a normal brain and abdominal ultrasound. The fundus examination after bilateral cataract extraction was normal with no signs of foveal or optic nerve hypoplasia.\nMutation: PAX6:NM_001258462.3:c.219G>T:(p.Arg73Ser) (chr11:31823289, hg 19), heterozygous. ACMG criteria: likely pathogenic. Inheritance: no parents available. This variant has not been previously described in the literature.