- A developmental abnormality of the anterior uvea that involves multiple
congenital ocular anomalies i.e. cornea, anterior chamber angle, lens,
retina and optic nerve.
- Clinical features:
- Symptoms: markedly decreased visual acuity, photophobia, dry
eye symptoms associated with severe ocular surface disease (eg,
pain, discomfort, etc)
- Signs:
- Total absence of the iris is rare
- Careful gonioscopic examination usually reveals bilateral
rudimentary or hypoplastic iris tissue hidden by the limbal
sclera
- Both open- and closed-angle types of glaucoma can develop:
the open-angle variant arises from a dysfunctional or absent
aqueous drainage system while the closed-angle form develops
secondary to blockage from the hypoplastic stump of peripheral
iris tissue
- Characteristic corneal findings include a superficial grayish
haze or opacification with a circumferential corneal epithelial
pannus that advances centrally
- Other related ocular findings include: ptosis secondary to
photophobia, lens subluxation, microphakia, cataract, strabismus,
nystagmus, amblyopia, optic nerve atrophy or hypoplasia, and
foveal hypoplasia
- Approximately two thirds are familial in origin (autosomal dominant
or recessive) and one third are sporadic
- Recognition of aniridia at an early age is important due to the
visual development significance as well as its high association with
other ocular and systemic findings
- Management:
- Initial medical therapy to control intraocular pressure can
be quite difficult since a significant number of patients develop
refractory glaucoma
- Glaucoma surgical procedures are frequently necessary in patients
who develop refractory glaucoma
- Treatment of photophobia and nystagmus
- Cataract surgery should be approached with caution because of
accompanying zonular dehiscence and/or lens subluxation
- Progressive pannus involving the entire cornea may necessitate
penetrating keratoplasty
- Genetic counseling
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