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: aniridia, nystagmus, anterior piramidal cataracts, optic nerve hypoplasia, foveal hypoplasia, aniridia-related keratopathy, high myopia.\nSystemic phenotype: aortic coarctation.\nA 6 week-old-boy was referred to our clinic for bilateral aniridia and cataracts with a confirmed genetic diagnose of WARG syndrome. He had no relevant family history. At birth he was diagnosed with aortic coarctation and had surgical treatment at four days of age, the genetic/environmental cause of the aortic coarctation had not been determined. On anterior segment examination, he presented bilateral aniridia, limbal insufficiency and piramidal cataracts, the funduscopy revealed bilateral optic nerve and foveal hypoplasia. An abdominal ultrasound was performed and he had a renal cyst in each kidney, and Willms tumor was ruled out. On his follow up, at nine months old, he was able to fix and follow a small object, he presented nystagmus and his cycloplegic refraction was −6 dp in his right eye and −10 dp in his left eye, the rest of the examination remained unchanged.\nKaryoArray® identified a copy-number loss spanning 13.48 Mb 11p14.1p12(28464346_41944418), NCBI Build 37. Also, array CGH analysis was performed on both parents and neither parent was found to carry the deletion.\nThe deletion identified in this case encompasses the following genes: KCNA4, FSHB, C11orf46, MPPED2, DCDC1, DNAJC24, IMMP1L, ELP4, PAX6, RCN1, WT1, WIT1, EIF3M, CCDC73, PRRG4, QSER1, DEPDC7, TCP11L1, LOC283267, CSTF3, HIPK3, C11orf41, C11orf91, CD59, FBXO3, LMO2, CAPRIN1, NAT10, ABTB2, CAT, ELF5, EHF, APIP, PDHX, CD44, SLC1A2, PAMR1, FJX1, TRIM44, LDLRAD3, COMMD9, PRR5L, TRAF6, RAG1, RAG2, C11orf74, and LRRC4C.