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: 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.