Purchase this article with an account.
Chelsea Lefebvre, Kenneth Juechter, Daniel Husney, Liying Han, Shilpa Jain, Gerald Zaidman; Corneal Transplant Surgery in Mucolipidosis IV-- A Clinico-pathologic Review. Invest. Ophthalmol. Vis. Sci. 2012;53(14):6050.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To present a case of a patient with Mucolipidosis IV (ML-IV) who underwent successful penetrating keratoplasty (PKP) and to describe the histopathology of Mucolipidosis IV in the cornea.
A 5-year-old had been diagnosed with ML-IV when he was two and a half. His parents noted progressive visual loss over the last 12 to 15 months. After an exam under anesthesia demonstrated bilateral cloudy corneas without any other ocular anomalies, the patient underwent a penetrating keratoplasty. The patient’s cornea was sent for light and electron microscopy.
Three months postkeratoplasty, his parents and his examiners noted a large subjective improvement in his vision. The patient is able to ambulate independently and pick up and grasp small objects and recognize colors. On slit-lamp examination, there was a trace amount of peripheral corneal epithelial haze in the donor button. The corneal stroma and endothelium were completely normal. Light microscopy of the excised native cornea illustrated intracytoplasmic inclusions in the corneal epithelial cells as well as in the superficial and deep keratocytes. Electron microscopy also revealed intracytoplasmic inclusions in the corneal epithelium and stroma.
Histopathologic features of ML-IV include diffuse intracytoplasmic inclusions in the corneal epithelium as well as in the superficial and deep stroma, which likely contribute to the corneal clouding seen in this condition. A PKP is a reasonable treatment for pediatric patients with corneal clouding secondary to Mucolipidosis IV.
This PDF is available to Subscribers Only