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: congenital cataracts, nystagmus, secondary glaucoma.\nA two-week-old boy presented with bilateral congenital cataracts. On examination, he had bilateral dense anterior cataracts that hindered the retinal examination, with no iris anomalies. The posterior pole was normal on the ocular ultrasound. He underwent cataract surgery with no IOL insertion at 6 weeks on his right eye and 7 weeks on his left eye. A few weeks later he developed secondary glaucoma on both eyes, he had a bilateral trabeculectomy first and Ahmed drainage implant on his right eye 8 months later.\nAt five years old his best-corrected visual acuity is 0.1 on each eye. On examination, he had sensory nystagmus with left gaze torticollis. His fundus examination was normal with no foveal hypoplasia. He had a cup/disc ratio of 0.2 on his right eye and 0.1 on his left eye, and the intraocular pressure was 16 mmHg in both eyes, using timolol 0.5% twice a day on his right eye.\nMutation: PAX6:NM_001258462.3:c.77G>A:p.(Arg26Gln) (chr11:31824316, hg19), heterozygous. ACMG criteria: likely pathogenic. Inheritance: de novo. This variant has been described as pathogenic by Williamson et al [] in a family with bilateral microphthalmia, bilateral iris coloboma, and bilateral congenital cataracts. One of the patients in this family also had nystagmus and secondary glaucoma.