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: 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.