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.
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.