Ocular phenotype: aniridia, congenital cataracts, nystagmus, foveal hypoplasia, high myopia.\nA 7-month-old boy presented with bilateral congenital cataract, aniridia, and nystagmus. He had no relevant family history and his parents were not consanguineous. He was able to fix and follow a small toy and he had horizontal nystagmus with left gaze torticollis (gaze towards the nystagmus’ nulls point). On anterior segment examination, he had bilateral anterior polar cataracts with rests of persistent pupillary membrane and complete aniridia. The fundus exam revealed bilateral foveal hypoplasia.\nAt 3 years old he had developed high myopia with a cycloplegic refraction of −10 diopters in both eyes, and his visual acuity was 0.1 on each eye using contact lenses. The examination remained otherwise unchanged and there were no signs of keratopathy or limbal insufficiency.\nMutation: PAX6: NM_001258462.3:c.1183+1G>A (chr11:31812257, hg19), heterozygous. ACMG criteria: pathogenic. Inheritance: de novo. This variant has been described as pathogenic by one submitter in ClinVar, accession: VCV000492996.1, and variation ID:492996 in four patients with aniridia 1.
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.