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Treatment of congenital aniridia associated with bilateral cataracts

Poster Details

First Author: L.Violante PORTUGAL

Co Author(s):    F. Carvalheira   S. Mendes   J. Campos   A. Neves   J. Sousa        

Abstract Details

Purpose:

the authors present the case of a female patient, 48 years of age with a bilateral aniridia and congenital bilateral cataracts, nystagmus, photophobia, and marked decrease of visual acuity (AVOD = 0.5/10; AVOE = 1/10). The aniridia is a disease autosomal dominant or sporadic occurrence and is the result of a deletion of the PAX6 gene, located on chromosome 11, p13, which causes changes in the development of the eyeball.

Setting:

bilateral aniridia and congenital bilateral cataracts, nystagmus, photophobia, and marked decrease of visual acuity

Methods:

the option was to intervene surgically, performing phacoemulsification with small capsulorrexis and implantation of IOLs (+ 30.00). The axial length of the eye was too small (OD: 20.40 mm; OE: 20.43 mm)

Results:

The surgical results were satisfactory for the patient, with a visual acuity corrected on the second month postoperatively of 1.2/10 in OD and 2/10 in the left eye. There has been no reduction of nystagmus or photophobia attenuation. Renal ultrasound was normal, but analysis of PAX6 was not normal (allele 2 with mutation c.509G> A (p.Trp170 *) - Exon 8)

Conclusions:

the goal of the authors in making a small capsulorrxis was, in part, by the eyes of the patient beeing very small and waiting for anterior capsule opacification over time creating a diaphragm effect.

Financial Disclosure:

NONE

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