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: 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.