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.
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.