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.
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.