Medical College of Wisconsin
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A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. Case Rep Ophthalmol 2015 Sep-Dec;6(3):366-72

Date

11/26/2015

Pubmed ID

26600791

Pubmed Central ID

PMC4649710

DOI

10.1159/000441615

Scopus ID

2-s2.0-84978521164   6 Citations

Abstract

We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and genital abnormalities. Upon presentation, there was severe exposure keratopathy causing large bilateral sterile ulcers culminating in corneal melting of both eyes. An amniotic membrane graft was used to attempt to maintain the corneal surface integrity. However, because of the late presentation, the corneas could not be salvaged. Extensive surgical reconstruction of both eyelids and bilateral penetrating keratoplasty was ultimately performed successfully to protect the ocular surfaces while trying to maximize the visual potential. Early amniotic membrane grafting may be done at the bedside and may help preserve the ocular in patients with severe eyelid deformities until more definitive treatment is performed.

Author List

Feinstein E, Traish AS, Aakalu V, Kassem IS

Author

Iris S. Kassem MD, PhD Associate Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin