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: 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.