Introduction: Aniridia (OMIM 106210) is a malformation of panocular development with complete or partial hypoplasia of the iris as a major characteristic of the spectrum. (1) The prevalence of aniridia (AN) is 1:40,000 to 1:100,000 with no known predilection for sex or gender. (1-3) The spectrum involves not only the iris, but also the cornea, lens, optic nerve, and fovea. (4) AN can be familial with autosomal dominant inheritance (AD). in two thirds of cases, while sporadic in the rest of the patients. It can occur as an isolated ocular malformation without any systemic involvement or as part of Wilms tumor, aniridia, genital anomalies and delay (WAGR) syndrome.(4, 5) AN results from mutations in the even-box gene-6 (PAX-6). ) located on chromosome 11p13, which encodes a highly conserved transcriptional regulator with two DNA-binding domains and a transcriptional trans-activation domain. (6, 7) It is essential for oculogenesis, the central nervous system (CNS), the olfactory system, (7) and the endocrine system. glands.(8) Additionally, it plays multiple roles in the development of the cornea, iris, lens, and retina during ocular morphogenesis(7, 8) by regulating PAX6 itself, PAX2 , the SRY -box 2 (SOX2) gene and a series of retinal genes. transcription factors and structural proteins, including lens crystallins. (9-13) The PAX6 database currently documents 826 total variants and 357 unique DNA sequence changes. (14) Documented mutations in PAX6 include premature termination codon (PTC), C-terminal extensions (CTE), and missense mutations. (14, 15) Aniridia may be the initial manifestation of WAGR syndrome where deletion of the WT1 (Wilms tumor 1) gene in chromosome 11p13 gives rise to the phenotype. (16) WAGR syndrome results from a complete constitution or partial deletion of 11p13 leading to conc...... middle of article ......6 haploinsufficiency causes brain malformation and olfactory dysfunction in the man. Natural genetics. 2001;28(3):214-6. Online publication of 06/30/2001. Netland PA, Scott ML, Boyle JWt, Lauderdale JD. Ocular and systemic findings in a survey of aniridia subjects. Journal of AAPOS: the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. 2011;15(6):562-6. Online publication 2011/12/14.30. Defreyn A, Maugery J, Chabrier S, Coullet J. [Gillespie syndrome: a rare presentation of congenital aniridia]. French Journal of Ophthalmology. 2007;30(1):e1. Online publication of 02/09/2007. Gillespie syndrome: a rare case of congenital aniridia.31. Roy F.H. Aniridia, cerebellar ataxia and mental retardation (Gillespie syndrome). Ocular syndromes and systemic diseases. 4th ed. United States: MedRounds; 2007.p. 18.