Ocular phenotype: nystagmus, corectopia, ectropion uvea, congenital cataracts, foveal hypoplasia.\nSystemic phenotype: bronchiectasis, type-II diabetes, encephalopathy, epilepsy, Perthes disease.\nA 14-year-old girl presented with nystagmus and congenital cataracts. She had a family history of congenital cataract and nystagmus in her father and sister, and her sister also has an iris coloboma. She had a medical history of bronchiectasis, type-II diabetes, encephalopathy, epilepsy, and Perthes disease, no other genetic diagnosis has been associated to her systemic phenotype, but she continues to be under investigation. Her visual acuity was 0.1 in her right eye and 0.05 in her left eye. She had bilateral microphthalmia and horizontal nystagmus, right gaze torticollis (gaze towards the nystagmus’ nulls point), and 30 diopters exotropia. The anterior segment examination showed a bilateral corectopia with ectropion uvea and anterior polar cataracts. On fundoscopy, she had foveal hypoplasia and peripheral vascular thinning. The cycloplegic refraction was −14 sphere diopters in both eyes.\nMutation: PAX6:NM_001258462.3:c.398G>T:p.(Ser133Ile) (chr11:31823110, hg19), heterozygous. ACMG criteria: likely pathogenic. Inheritance: paternal. 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.