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.
Ocular phenotype: nystagmus, foveal hypoplasia, aniridia-related keratopathy.\nA 29-year-old woman, related to case 2 (aunt), followed in our clinic for nystagmus, foveal hypoplasia, and limbal insufficiency. Her visual acuity was 0.16 on her right eye and 0.1 on her left eye. On examination, she had severe limbal insufficiency in both eyes with peripheral and central aniridia-related keratopathy grade 3 []. The iris morphology was normal in both eyes. The intraocular pressure was normal and on the fundus exam, she had bilateral foveal hypoplasia.\nMutation: PAX6:NM_001258462.3):c.395C>G:p.(Pro132Arg) (chr11:31823113, hg19) heterozygous. ACMG criteria: likely pathogenic. Inheritance: paternal. This variant has been described as pathogenic by Sonoda et al [] in a family with congenital nystagmus associated with a variant form of aniridia.