U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aniridia 1(AN1)

MedGen UID:
576337
Concept ID:
C0344542
Congenital Abnormality
Synonym: AN1
SNOMED CT: Aniridia type 1 (253231007); AN1 (253231007)
 
Genes (locations): 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
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.

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
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Glucose intolerance
MedGen UID:
75760
Concept ID:
C0271650
Disease or Syndrome
Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Increased proinsulin:insulin ratio
MedGen UID:
1635847
Concept ID:
C4703595
Finding
An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.
Congenital aniridia
MedGen UID:
1941
Concept ID:
C0003076
Congenital Abnormality
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 problems.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Corneal neovascularization
MedGen UID:
43103
Concept ID:
C0085109
Disease or Syndrome
Ingrowth of new blood vessels into the cornea.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Optic nerve hypoplasia
MedGen UID:
137901
Concept ID:
C0338502
Disease or Syndrome
Underdevelopment of the optic nerve.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Corneal erosion
MedGen UID:
97882
Concept ID:
C0392163
Disease or Syndrome
An erosion or abrasion of the cornea's outermost layer of epithelial cells.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Anterior subcapsular cataract
MedGen UID:
207277
Concept ID:
C1112768
Disease or Syndrome
A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.
Congenital ectopic pupil
MedGen UID:
224790
Concept ID:
C1271219
Congenital Abnormality
Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.
Retinal vascular tortuosity
MedGen UID:
349827
Concept ID:
C1860475
Anatomical Abnormality
The presence of an increased number of twists and turns of the retinal blood vessels.
Bilateral ptosis
MedGen UID:
356120
Concept ID:
C1865916
Disease or Syndrome
Foveal hypoplasia
MedGen UID:
393047
Concept ID:
C2673946
Finding
Underdevelopment of the fovea centralis.
Chorioretinal hypopigmentation
MedGen UID:
868092
Concept ID:
C4022483
Finding
Macular agenesis
MedGen UID:
1786610
Concept ID:
C5539788
Congenital Abnormality
A congenital defect characterized by lack of development of the macula.

Professional guidelines

PubMed

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
Trainor PA, Andrews BT
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):283-94. Epub 2013 Oct 4 doi: 10.1002/ajmg.c.31375. PMID: 24123981Free PMC Article

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
Summers CG, Letson RD
J Pediatr Ophthalmol Strabismus 1992 Sep-Oct;29(5):324-7. doi: 10.3928/0191-3913-19920901-17. PMID: 1432523

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
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
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

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...