Personal History
Male patient born by cesarean section (controlled pregnancy, no prenatal or perinatal infection) at 36 weeks of gestation.
The patient was referred to our hospital for suspected bilateral congenital glaucoma three days after birth.
Establishment plan
Corneal exploration under general anesthesia revealed an intraocular pressure of 27 mmHg with PerkinsÆ tonus in both eyes, a 11.5 mm diameter, a large corneal opacity and bilateral aniridia.
Treatment
Bilateral trabeculectomy was performed on the twelfth, with scleral flap and conjunctival flap based on fornix.
No antimitotic drugs were used.
Ev
After 15 days, sedation was performed with persistent corneal opacity and intraocular pressure of 17 mmHg in the right eye and 14 mmHg in the left eye.
1.
Keratoplasty may be performed due to the persistence of corneal edema in both eyes.
Genetic study
The presence of possible deletions or genetic duplications was assessed by MLPA (Multiples Ligation-dependent Probe Amplification) technique using SALSA P245 probe mix.
This method allows evaluating, among others, the dose of the PAX 6 gene in the chromosome region 11p13, whose deletion causes aniridia and other ocular alterations.
All catheters used showed a normal relative intensity in the sample studied, so it was ruled out that the patient had the deletion predisposing to WAGR syndrome.
