Ocular phenotype: nystagmus, chorioretinal coloboma, foveal hypoplasia, high myopia, rod retinal dystrophy.\nA six-month-old boy came to our clinic for a second opinion. He was born at 39 weeks from a spontaneous pregnancy of non-consanguineous parents. He had a history of nystagmus, which was first noted by his parents at 2 months old. On the first examination, he was able to fix and follow a small toy with both eyes, his pupils were hyporeactive and he had jerk nystagmus with a vertical component. The anterior segment was normal with no iris or lens abnormalities. On fundoscopy, he had a small chorioretinal coloboma inferior to the optic disc in his left eye and foveal hypoplasia in both eyes. The cycloplegic refraction showed low myopia. The neurological examination was normal and the visual evoked potential showing a low amplitude in both eyes.\nAt six years old his vision was 0.1 (decimal) in both eyes and he had developed −10 sphere diopters, and the fundus revealed a hypo-pigmented retina with bilateral foveal hypoplasia. Retinal dystrophy was suspected and the electroretinogram showed low amplitude in the rods responses, with normal oscillatory potentials and cones responses.\nMutation: PAX6:NM_001258462.3:c.262A>G:exon7:p.(Ser88Gly) (chr11:31823246, hg19), heterozygous. ACMG criteria: likely pathogenic. Inheritance: de novo. This variant has not been previously described in the literature.
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.