Use of amniotic membrane graft and corneal transplantation in a patient with bilateral keratomalacia induced by uncontrolled phenylketonuria.

PURPOSE: To report a patient with a rare complication of bilateral keratomalacia induced by uncontrolled phenylketonuria (PKU) that was successfully treated with amniotic membrane transplantation in 1 eye and penetrating keratoplasty in the second eye.

METHODS

Case report and literature review.

RESULTS

A 9-month-old girl with uncontrolled PKU was referred to our clinic because of bilateral keratomalacia. Slit-lamp examination of the right eye revealed 2 large corneal erosions with stromal thinning on the nasal and inferior regions of the right cornea. Left eye examination revealed a large area of melting involving two thirds of the cornea with corneal perforation and iris bulging on the temporal side and no anterior chamber. She underwent amniotic membrane transplantation on her right cornea and penetrating keratoplasty on her left cornea. Treatment after surgery included antibiotic and steroid eye drops and a special diet regimen with partial phenylalanine intake. Examination under anesthesia 4 months after surgery revealed intact cornea in her right eye and a clear corneal graft with a deep anterior chamber on her left eye. Intraocular pressure was normal in both eyes.

CONCLUSIONS

Bilateral keratomalacia, although a rare ophthalmic manifestation of PKU, can cause a severe corneal injury that may threaten the eyeball integrity. Surgical treatments with amniotic membrane graft and corneal transplantation, along with the appropriate diet treatment, were found to be effective procedures, yielding rapid healing of the corneal surface.