Habot-Wilner Zohar, Spierer Abraham, Barequet Irina S, Greenbaum Aharon
Goldschleger Eye Institute, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Hashomer, Israel.
Cornea. 2007 Jun;26(5):629-31. doi: 10.1097/ICO.0b013e31803d1617.
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.
Case report and literature review.
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.
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.
报告1例因苯丙酮尿症（PKU）控制不佳导致双侧角膜软化这一罕见并发症的患者，其中1只眼成功接受了羊膜移植治疗，另1只眼接受了穿透性角膜移植术。
病例报告及文献复习。
一名9个月大、PKU控制不佳的女孩因双侧角膜软化被转诊至我院门诊。裂隙灯检查右眼发现右眼角膜鼻侧和下方区域有2处大的角膜糜烂伴基质变薄。左眼检查发现三分之二的角膜出现大面积溶解，伴有角膜穿孔，颞侧虹膜膨出，无前房。她右眼接受了羊膜移植，左眼接受了穿透性角膜移植。术后治疗包括抗生素和类固醇眼药水以及部分摄入苯丙氨酸的特殊饮食方案。术后4个月的麻醉下检查显示右眼角膜完整，左眼角膜移植片透明，前房深。双眼眼压正常。
双侧角膜软化虽是PKU罕见的眼部表现，但可导致严重的角膜损伤，可能威胁眼球完整性。羊膜移植和角膜移植手术联合适当的饮食治疗被发现是有效的治疗方法，可使角膜表面迅速愈合。
