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Congenital aniridia(AN)

MedGen UID:
1941
Concept ID:
C0003076
Congenital Abnormality
Synonyms: AN; Aniridia; ANIRIDIA II; Isolated Aniridia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Aniridia (69278003); Irideremia (69278003); Aplasia of iris (69278003); Congenital aniridia (69278003); Agenesis of iris (69278003); Congenital absence of iris (69278003)
 
Genes: ELP4; WT1; PAX6
Cytogenetic location: 11p13
OMIM: 106210

Disease characteristics

Excerpted from the GeneReview: Aniridia
Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities (often of later onset) include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 are at up to a 50% risk of developing Wilms tumor. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Melanie Hingorani  |  Anthony Moore   view full author information

Additional descriptions

From OMIM
Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (Jordan et al., 1992). See also Gillespie syndrome (206700), in which aniridia is associated with cerebellar ataxia and mental retardation.  http://www.omim.org/entry/106210
From GHR
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes. Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.  http://ghr.nlm.nih.gov/condition/aniridia

Clinical features

Visual impairment
MedGen UID:
504469
Concept ID:
CN000473
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Aniridia
MedGen UID:
504480
Concept ID:
CN000492
Finding
Congenital absence of the `iris` (FMA:58235).
Abnormality of the macula
MedGen UID:
446392
Concept ID:
CN001036
Finding
An abnormality of the `macula lutea` (FMA:58637) is an oval-shaped highly pigmented yellow spot near the center of the retina.
Aplasia/Hypoplasia of the iris
MedGen UID:
429187
Concept ID:
CN007080
Finding
Absence or underdevelopment of the `iris` (FMA:58235).

Recent clinical studies

Etiology

Singh B, Mohamed A, Chaurasia S, Ramappa M, Mandal AK, Jalali S, Sangwan VS
J Pediatr Ophthalmol Strabismus 2014 Jan-Feb;51(1):59-62. Epub 2014 Jan 3 doi: 10.3928/01913913-20131223-01. [Epub ahead of print] PMID: 24369682
He Y, Pan Z, Luo F
Curr Eye Res 2012 Oct;37(10):879-83. Epub 2012 May 23 doi: 10.3109/02713683.2012.688165. [Epub ahead of print] PMID: 22621390
Bakhtiari P, Chan C, Welder JD, de la Cruz J, Holland EJ, Djalilian AR
Am J Ophthalmol 2012 May;153(5):967-971.e2. Epub 2012 Jan 21 doi: 10.1016/j.ajo.2011.10.027. [Epub ahead of print] PMID: 22265154
Luo F, Zhou L, Ma X, He Y, Zou L, Jie Y, Liu J, Pan Z
Ophthalmic Res 2012;47(1):27-31. Epub 2011 Jun 21 doi: 10.1159/000327593. [Epub ahead of print] PMID: 21691140
Park SH, Park YG, Lee MY, Kim MS
Korean J Ophthalmol 2010 Oct;24(5):291-6. Epub 2010 Oct 5 doi: 10.3341/kjo.2010.24.5.291. PMID: 21052509Free PMC Article

Diagnosis

Singh B, Mohamed A, Chaurasia S, Ramappa M, Mandal AK, Jalali S, Sangwan VS
J Pediatr Ophthalmol Strabismus 2014 Jan-Feb;51(1):59-62. Epub 2014 Jan 3 doi: 10.3928/01913913-20131223-01. [Epub ahead of print] PMID: 24369682
Ihnatko R, Edén U, Lagali N, Dellby A, Fagerholm P
J Proteomics 2013 Dec 6;94:78-88. Epub 2013 Sep 21 doi: 10.1016/j.jprot.2013.09.003. [Epub ahead of print] PMID: 24061003
Lee NY, Lee YE, Mok J, Kim M, Park SH
Can J Ophthalmol 2013 Aug;48(4):340-2. doi: 10.1016/j.jcjo.2013.02.009. PMID: 23931477
Bakhtiari P, Chan C, Welder JD, de la Cruz J, Holland EJ, Djalilian AR
Am J Ophthalmol 2012 May;153(5):967-971.e2. Epub 2012 Jan 21 doi: 10.1016/j.ajo.2011.10.027. [Epub ahead of print] PMID: 22265154
Park SH, Park YG, Lee MY, Kim MS
Korean J Ophthalmol 2010 Oct;24(5):291-6. Epub 2010 Oct 5 doi: 10.3341/kjo.2010.24.5.291. PMID: 21052509Free PMC Article

Therapy

Singh B, Mohamed A, Chaurasia S, Ramappa M, Mandal AK, Jalali S, Sangwan VS
J Pediatr Ophthalmol Strabismus 2014 Jan-Feb;51(1):59-62. Epub 2014 Jan 3 doi: 10.3928/01913913-20131223-01. [Epub ahead of print] PMID: 24369682
Ihnatko R, Edén U, Lagali N, Dellby A, Fagerholm P
J Proteomics 2013 Dec 6;94:78-88. Epub 2013 Sep 21 doi: 10.1016/j.jprot.2013.09.003. [Epub ahead of print] PMID: 24061003
Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM
Arch Pediatr Adolesc Med 2007 May;161(5):463-9. doi: 10.1001/archpedi.161.5.463. PMID: 17485622
Yalvac IS, Kocaoglan H, Eksioglu U, Demir N, Duman S
J Cataract Refract Surg 2004 Jul;30(7):1582-5. doi: 10.1016/j.jcrs.2003.11.046. PMID: 15210243
Sundmacher T, Reinhard T, Althaus C
Ger J Ophthalmol 1994 Aug;3(4-5):197-201. PMID: 7804103

Prognosis

Chen JH, Lin W, Sun G, Huang C, Huang Y, Chen H, Pang CP, Zhang M
Mol Vis 2012;18:989-95. Epub 2012 Apr 21 PMID: 22550392Free PMC Article
Luo F, Zhou L, Ma X, He Y, Zou L, Jie Y, Liu J, Pan Z
Ophthalmic Res 2012;47(1):27-31. Epub 2011 Jun 21 doi: 10.1159/000327593. [Epub ahead of print] PMID: 21691140
Skeens HM, Brooks BP, Holland EJ
Ophthalmology 2011 Jul;118(7):1260-4. Epub 2011 Mar 4 doi: 10.1016/j.ophtha.2010.11.021. [Epub ahead of print] PMID: 21376398
Villarroel CE, Villanueva-Mendoza C, Orozco L, Alcántara-Ortigoza MA, Jiménez DF, Ordaz JC, González-del Angel A
Mol Vis 2008 Sep 8;14:1650-8. PMID: 18776953Free PMC Article
de la Paz MF, Alvarez de Toledo J, Barraquer RI, Barraquer J
Acta Ophthalmol 2008 Nov;86(7):735-40. Epub 2008 Jun 20 doi: 10.1111/j.1755-3768.2008.01293.x. [Epub ahead of print] PMID: 18631333

Clinical prediction guides

Singh B, Mohamed A, Chaurasia S, Ramappa M, Mandal AK, Jalali S, Sangwan VS
J Pediatr Ophthalmol Strabismus 2014 Jan-Feb;51(1):59-62. Epub 2014 Jan 3 doi: 10.3928/01913913-20131223-01. [Epub ahead of print] PMID: 24369682
He Y, Pan Z, Luo F
Curr Eye Res 2012 Oct;37(10):879-83. Epub 2012 May 23 doi: 10.3109/02713683.2012.688165. [Epub ahead of print] PMID: 22621390
Chen JH, Lin W, Sun G, Huang C, Huang Y, Chen H, Pang CP, Zhang M
Mol Vis 2012;18:989-95. Epub 2012 Apr 21 PMID: 22550392Free PMC Article
Luo F, Zhou L, Ma X, He Y, Zou L, Jie Y, Liu J, Pan Z
Ophthalmic Res 2012;47(1):27-31. Epub 2011 Jun 21 doi: 10.1159/000327593. [Epub ahead of print] PMID: 21691140
Park SH, Park YG, Lee MY, Kim MS
Korean J Ophthalmol 2010 Oct;24(5):291-6. Epub 2010 Oct 5 doi: 10.3341/kjo.2010.24.5.291. PMID: 21052509Free PMC Article

Recent systematic reviews

Rixen JJ, Cohen AW, Kitzmann AS, Wagoner MD, Goins KM
Cornea 2013 Jul;32(7):947-50. doi: 10.1097/ICO.0b013e318281724a. PMID: 23449480

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