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, chorioretinal coloboma, foveal hypoplasia, high myopia, rod retinal dystrophy.\nA six-month-old boy came to our clinic for a second opinion. He was born at 39 weeks from a spontaneous pregnancy of non-consanguineous parents. He had a history of nystagmus, which was first noted by his parents at 2 months old. On the first examination, he was able to fix and follow a small toy with both eyes, his pupils were hyporeactive and he had jerk nystagmus with a vertical component. The anterior segment was normal with no iris or lens abnormalities. On fundoscopy, he had a small chorioretinal coloboma inferior to the optic disc in his left eye and foveal hypoplasia in both eyes. The cycloplegic refraction showed low myopia. The neurological examination was normal and the visual evoked potential showing a low amplitude in both eyes.\nAt six years old his vision was 0.1 (decimal) in both eyes and he had developed −10 sphere diopters, and the fundus revealed a hypo-pigmented retina with bilateral foveal hypoplasia. Retinal dystrophy was suspected and the electroretinogram showed low amplitude in the rods responses, with normal oscillatory potentials and cones responses.\nMutation: PAX6:NM_001258462.3:c.262A>G:exon7:p.(Ser88Gly) (chr11:31823246, hg19), heterozygous. ACMG criteria: likely pathogenic. Inheritance: de novo. This variant has not been previously described in the literature.