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: 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.