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1,664 Possible Causes for Aniridia

  • Nephroblastoma

    Patients with bilateral tumors, aniridia, cryptorchism/hypospadias, Beck-with-Wiedemann syndrome, or intralobar nephrogenic rests tend to be diagnosed much younger than average[] Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum.[] Postoperative renal function was unimpaired in 4 patients and 1 patient had Wilms tumor/aniridia/genitourinary malformations/retardation syndrome with glomerulopathy.[]

  • Peters Anomaly

    We report a child with aniridia and Peters anomaly associated with a PAX6 gene mutation.[] At birth he showed bilateral buphthalmos with aniridia and congenital corneal opacities, agreeing with Peters' anomaly. A keratoplasty was performed.[] Abstract Mutations in the PAX 6 gene are known to cause many cases of inherited and sporadic aniridia.[]

  • Aphakia

    We report a case of aniridia associated with congenital aphakia and secondary glaucoma.[] Examination showed partial aniridia and aphakia.[] Aniridia was probably the result of the relatively large wound used to implant the nonfoldable IOL.[]

  • Rieger Syndrome

    […] a patient with Axenfeld-Rieger syndrome (ARS) and cataract before and after anterior segment surgery using intraocular lens (IOL) and aniridic ring implantation (Morcher Aniridia[] In addition, a known variant (c.649C T; p.Arg217*) in PAX6 segregated in a family with aniridia.[] Anterior segment phenotypes show wide variability and include a phenocopy of aniridia and Peters', Rieger, and Axenfeld anomalies.[]

  • Isolated Congenital Sclerocornea

    : miller Syndrome Definition called AN-2 autosomal dominant (13%) associated with Wilm's tumor, genitourinary anomalies and Medial Rectus Term Aniridia: Gillespie syndrome[] Wilms Tumor Aniridia GU abnormal Retardation A/w sporadic aniridia (1/3) A/w PAX6 mutation (also post embryotoxon, Peters, Axenfeld, and congenital cataract) Aniridia high[] Assigned diseases: Back to detailed view In the following you will find the diseases that this support group organisation focuses on: Aniridia Autosomal recessive Stickler[]

  • Hydrophthalmos

    Other conditions causing buphthalmos: Aniridia: Characterized by complete or partial iris hypoplasia. Inheritance is autosomal dominant.[] […] neck ( Q10-Q18, 743-744 ) Eyes eyelid, lacrimal apparatus and orbit (Ptosis, Ectropion, Entropion, Distichia) Anophthalmia - Microphthalmia lens ( Ectopia lentis, Aphakia) Aniridia[] Childhood glaucoma can also be caused by other conditions, such as: aniridia, which refers to not having an iris — the colored part of the eye neurofibromatosis type 1 (aka[]

  • Autosomal Dominant Keratitis

    The presence of macular hypoplasia in association with the iris and corneal changes suggests that autosomal dominant keratitis is likely a variant of aniridia.[] OMIM Entries for Aniridia: 106210: ANIRIDIA; AN 194072: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; WAGR 206700: ANIRIDIA, CEREBELLAR[] Aniridia (shown recently to result from mutations in the PAX6 gene) has overlapping clinical findings and a similar pattern of inheritance with ADK.[]

  • Denys-Drash Syndrome

    Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome, with its complete deletion of one copy of WT1, Denys-Drash syndrome is generally[] Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia[] In striking contrast, complete deletions of band 11p13 result in the Wilms tumor, aniridia, genitourinary malformations, and mental retardation (WAGR) syndrome, which is characterized[]

  • Axenfeld-Rieger Syndrome Type 3

    Gillespie syndrome, an autosomal recessive form of aniridia, is associated with cerebellar ataxia and mental retardation seen in 2% of patients with aniridia.[] The patient was referred to our institute when she was four years old with an uncertain diagnosis of ARS versus aniridia.[] Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation. Mol Vis. 2011;17:1231-8. Tumer Z, Bach-Holm D.[]

  • Lens Dislocation

    Aniridia • Cataract Surgery • Dislocated IOL, subluxed IOL A patient suffered repeat trauma 3-years prior to a traumatic cataract which required a Rauch-Rosenthal aniridia[] It can also be associated with other ocular disorders such as aniridia, pseudoexfoliation syndrome, and congenital glaucoma.[] The injury can also be hereditary, and in that case it is likely to be linked to other conditions that cause weakness in the ligaments, such as Marfan syndrome or aniridia[]

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