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Aniridia 1(AN1)

MedGen UID:
576337
Concept ID:
C0344542
Congenital Abnormality
Synonym: AN1
SNOMED CT: Aniridia type 1 (253231007); AN1 (253231007)
 
PAX6 (11p13); WT1 (11p13)
 
Monarch Initiative: MONDO:0024507
OMIM®: 106210

Disease characteristics

Excerpted from the GeneReview: PAX6-Related Aniridia
PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues. [from GeneReviews]
Authors:
Mariya Moosajee  |  Melanie Hingorani  |  Anthony T 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 (summary by Jordan et al., 1992). Genetic Heterogeneity of Aniridia There is also evidence that aniridia-2 (AN2) is caused by mutation in a PAX6 cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene (606985), and that aniridia-3 (AN3) is caused by mutation in the TRIM44 gene (612298) on chromosome 11p13. See also Gillespie syndrome (206700), in which aniridia is associated with cerebellar ataxia and mental retardation.  http://www.omim.org/entry/106210
From MedlinePlus Genetics
Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.

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.

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).  https://medlineplus.gov/genetics/condition/aniridia

Clinical features

From HPO

Professional guidelines

PubMed

Bonneau S, Tong CM, Yang Y, Harissi-Dagher M
Graefes Arch Clin Exp Ophthalmol 2022 Sep;260(9):2781-2790. Epub 2022 Apr 6 doi: 10.1007/s00417-022-05646-1. PMID: 35384455
Lima Cunha D, Arno G, Corton M, Moosajee M
Genes (Basel) 2019 Dec 17;10(12) doi: 10.3390/genes10121050. PMID: 31861090Free PMC Article
Nischal KK
Cornea 2015 Oct;34 Suppl 10:S24-34. doi: 10.1097/ICO.0000000000000552. PMID: 26352876

Recent clinical studies

Etiology

Falcone MP, Pritchard-Jones K, Brok J, Mifsud W, Williams RD, Nakata K, Tugnait S, Al-Saadi R, Side L, Anderson J, Duncan C, Marks SD, Bockenhauer D, Chowdhury T
Pediatr Nephrol 2022 Apr;37(4):821-832. Epub 2021 Oct 4 doi: 10.1007/s00467-021-05125-5. PMID: 34608521Free PMC Article
Lee HK, Kim MK, Oh JY
Am J Ophthalmol 2018 Jan;185:75-80. Epub 2017 Oct 31 doi: 10.1016/j.ajo.2017.10.017. PMID: 29101006
Mostafa YS, Osman AA, Hassanein DH, Zeid AM, Sherif AM
Eur J Ophthalmol 2018 Jan;28(1):103-107. doi: 10.5301/ejo.5000991. PMID: 28574137
Bhate M, Sachdeva V, Kekunnaya R
J Pediatr Ophthalmol Strabismus 2017 Mar 1;54(2):117-122. Epub 2016 Dec 16 doi: 10.3928/01913913-20161013-03. PMID: 27977037
Nakamura T, Inatomi T, Sotozono C, Ang LP, Koizumi N, Yokoi N, Kinoshita S
Ophthalmology 2006 Oct;113(10):1765-72. Epub 2006 Aug 14 doi: 10.1016/j.ophtha.2006.04.030. PMID: 16905193

Diagnosis

Falcone MP, Pritchard-Jones K, Brok J, Mifsud W, Williams RD, Nakata K, Tugnait S, Al-Saadi R, Side L, Anderson J, Duncan C, Marks SD, Bockenhauer D, Chowdhury T
Pediatr Nephrol 2022 Apr;37(4):821-832. Epub 2021 Oct 4 doi: 10.1007/s00467-021-05125-5. PMID: 34608521Free PMC Article
Lee HK, Kim MK, Oh JY
Am J Ophthalmol 2018 Jan;185:75-80. Epub 2017 Oct 31 doi: 10.1016/j.ajo.2017.10.017. PMID: 29101006
Mostafa YS, Osman AA, Hassanein DH, Zeid AM, Sherif AM
Eur J Ophthalmol 2018 Jan;28(1):103-107. doi: 10.5301/ejo.5000991. PMID: 28574137
Boonstra N, Limburg H, Tijmes N, van Genderen M, Schuil J, van Nispen R
Acta Ophthalmol 2012 May;90(3):277-86. Epub 2011 Aug 4 doi: 10.1111/j.1755-3768.2011.02205.x. PMID: 21812942
Bodunde OT, Ajibode HA
Niger J Med 2006 Jul-Sep;15(3):291-4. doi: 10.4314/njm.v15i3.37232. PMID: 17111762

Prognosis

Lee HK, Kim MK, Oh JY
Am J Ophthalmol 2018 Jan;185:75-80. Epub 2017 Oct 31 doi: 10.1016/j.ajo.2017.10.017. PMID: 29101006
Mostafa YS, Osman AA, Hassanein DH, Zeid AM, Sherif AM
Eur J Ophthalmol 2018 Jan;28(1):103-107. doi: 10.5301/ejo.5000991. PMID: 28574137
Omi CA, De Almeida GV, Cohen R, Mandia C Jr, Kwitko S
Ophthalmology 1991 Feb;98(2):211-4. doi: 10.1016/s0161-6420(91)32315-7. PMID: 2008279

Clinical prediction guides

Mayer CS, Hoffmann AM, Prahs P, Reznicek L, Khoramnia R
BMC Ophthalmol 2020 Sep 15;20(1):370. doi: 10.1186/s12886-020-01621-8. PMID: 32933506Free PMC Article
Omi CA, De Almeida GV, Cohen R, Mandia C Jr, Kwitko S
Ophthalmology 1991 Feb;98(2):211-4. doi: 10.1016/s0161-6420(91)32315-7. PMID: 2008279

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