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: 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.