Aniridia

Aniridia
Eyes of a Scandinavian male wherein the iris is not present due to aniridia. Notice the lack of common eye color as the eye appears to be one large pupil.
ICD-10	Q13.1
ICD-9	743.45
OMIM	106200 106210
DiseasesDB	723
eMedicine	oph/43
MeSH	D015783

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Aniridia is a rare congenital condition characterized by the underdevelopment of the eye's iris. This usually occurs in both eyes. It is associated with poor development of the retina at the back of the eye preventing normal vision development.

Signs and symptoms

Clinical presentation: Ocular

• Stumps of iris usually apparent
• Some patients have partial aniridia with relatively preserved vision
• Corneal findings; Limbal stem cell deficiency = aniridic keratopathy
• Corneal pannus usually presents in early childhood with radial vessels at 6 and 12 o’clock, developing circumferential grayish haze which advances centrally
• Corneal epithelium may harbor ectopic conjunctival goblet cells, and inflammatory cells are usually present
• Microcornea is very common in aniridia
• Initial fine lens opacities in infants
• Visually significant cataract often acquired by 2nd-3rd decade
• Multiple cataract types described: anterior polar, pyramidal, nuclear, lamellar, and cortical
• Lens subluxation / ectopia lentis
• Nystagmus
• Sensory strabismus
• Glaucoma onset usually by 2nd decade
• Gradually increasing angle obstruction, though open angle also possible
• Possible glaucoma mechanism: Contractile membrane covering angle, with increase in iridocorneal processes; iris stump may become totally adherent to posterior corneal surface
• Foveal hypoplasia, which may be complete or very subtle; Fluorescein angiography may be needed to demonstrate lack of foveal avascular zone
• Optic nerve hypoplasia to some degree is present in up to 75% of aniridia patients

Clinical presentation: non-ocular

• Dysosmia / dysnomia = abnormal sense of smell due to hypoplastic olfactory bulbs
• Glucose intolerance / diabetes mellitus
• Reduced size of corpus callosum and anterior commissure
• Absent pineal gland: abnormal sleep due to melatonin abnormalities
• Unilateral polymicrogyria
• WAGR syndrome (Wilms tumor, aniridia, genitourinary abnormality, mental retardation)
• Wilms tumor occurs in 30–50% of cases
• External genital anomalies occur only in males, often delaying recognition of WAGR in females
• Late onset nephropathy is a well-recognized feature of this syndrome

Treatment

Due to the high risk of glaucoma and cataract formation, aniridia patients should be under the care of an ophthalmologist familiar with the condition. The risk of progressive glaucoma persists from childhood into adulthood, necessitating long-term follow-up. Optometrists and low vision specialists are often valuable in maximizing visual and social functioning, prescribing glasses, and amelioriating light sensitivity (photophobia).

The iris functions to restrict the amount of light entering the eye, so if it is absent, most individuals with aniridia are sensitive to bright outdoor light and their eyes may need protecting. This can be done with tinted glasses, or with a contact lens which has an artificial iris painted onto it.

Aniridia is often associated with other health and developmental problems, as well as complicating eye conditions such as: foveal hypoplasia, nystagmus, glaucoma, corneal disease, cataract, lens subluxation and optic nerve disease.

See also

• WAGR syndrome

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