106210 ANIRIDIA 1; AN1
 [for Professionals mainly]
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...
Aniridia factsheet
RNIB - Royal National Institute for the Blind
[Support Groups]
Aniridia is a rare condition where the iris (the coloured part of your eye) has not formed properly, so it may be missing or underdeveloped.
The word "aniridia" means "no iris", but the amount of iris tissue missing will vary from person to person. People with aniridia will often have very large pupils (the hole in the middle of each iris) which may also have an irregular shape because so much of their iris tissue is missing. Sometimes, the iris will have a more regular shape and only an eye specialist will be able to tell if aniridia is present.
PAIRED BOX GENE 6; PAX6
PAX6, a member of the paired box gene family, encodes a transcriptional regulator involved in oculogenesis and other developmental processes.
Hanson and Van Heyningen (1995) reviewed the work on PAX6 in man, mouse, and Drosophila. A chronology was provided, beginning with identification of the 'paired' gene as a key regulator of segmentation in Drosophila in 1980 to the discovery by Halder et al. (1995) that ectopic expression of Drosophila Pax6 induces ectopic eye development. Wawersik and Maas (2000) reviewed the role of Pax6 and other genes in vertebrate and fly oculogenesis.
ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY
Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).
ANIRIDIA AND ABSENT PATELLA
Mirkinson and Mirkinson (1975) reported this combination in a boy, his father, and his paternal grandmother ... bilateral cataracts and glaucoma complicated the aniridia. The patella was either hypoplastic or aplastic ...
ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION
Sommer et al. (1974) reported a brother and sister with this syndrome ... congenital glaucoma, telecanthus and frontal bossing as well ...
ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT
Marakhonov et al. (2020) reported 2 unrelated patients with complex anterior segment dysgenesis. Case 1 was a 27-year-old Russian woman of Chuvash ancestry who exhibited bilateral microphthalmia, microcornea, partial aniridia, congenital aphakia, nystagmus, strabismus, secondary glaucoma, and foveal and optic disc hypoplasia.
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Last Updated: 2023/01/18
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