title: A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting.
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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Ill., USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Feinstein
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Ill., USA.
authors.forename: Aisha S
authors.initials: AS
authors.lastname: Traish
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Ill., USA.
authors.forename: Vinay
authors.initials: V
authors.lastname: Aakalu
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Ill., USA ; Department of Ophthalmology, Medical College of Wisconsin Eye Institute, Milwaukee, Wisc., USA.
authors.forename: Iris S
authors.initials: IS
authors.lastname: Kassem
keywords: Ablepharon; Absent eyelids; Absent hair; Congenital eyelid anomalies; Macrostomia