Ocular phenotype: nystagmus, corectopia, ectropion uvea, congenital cataracts, foveal hypoplasia.\nSystemic phenotype: bronchiectasis, type-II diabetes, encephalopathy, epilepsy, Perthes disease.\nA 14-year-old girl presented with nystagmus and congenital cataracts. She had a family history of congenital cataract and nystagmus in her father and sister, and her sister also has an iris coloboma. She had a medical history of bronchiectasis, type-II diabetes, encephalopathy, epilepsy, and Perthes disease, no other genetic diagnosis has been associated to her systemic phenotype, but she continues to be under investigation. Her visual acuity was 0.1 in her right eye and 0.05 in her left eye. She had bilateral microphthalmia and horizontal nystagmus, right gaze torticollis (gaze towards the nystagmus’ nulls point), and 30 diopters exotropia. The anterior segment examination showed a bilateral corectopia with ectropion uvea and anterior polar cataracts. On fundoscopy, she had foveal hypoplasia and peripheral vascular thinning. The cycloplegic refraction was −14 sphere diopters in both eyes.\nMutation: PAX6:NM_001258462.3:c.398G>T:p.(Ser133Ile) (chr11:31823110, hg19), heterozygous. ACMG criteria: likely pathogenic. Inheritance: paternal. This variant has not been previously described in the literature.
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.