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Feinstein E, Traish AS, Aakalu V, et al. A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. Case Rep Ophthalmol. 2015;6(3):366-72doi: 10.1159/000441615.
Feinstein, E., Traish, A. S., Aakalu, V., & Kassem, I. S. (2015). A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. Case reports in ophthalmology, 6(3), 366-72. https://doi.org/10.1159/000441615
Feinstein, Eric, et al. "A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting." Case reports in ophthalmology vol. 6,3 (2015): 366-72. doi: https://doi.org/10.1159/000441615
Feinstein E, Traish AS, Aakalu V, Kassem IS. A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. Case Rep Ophthalmol. 2015 Oct 30;6(3):366-72. doi: 10.1159/000441615. eCollection 2015. PMID: 26600791; PMCID: PMC4649710.
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Case Rep Ophthalmol. 2015 Oct 30;6(3):366-72. doi: 10.1159/000441615. eCollection 2015.

A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting.

Case reports in ophthalmology

Eric Feinstein, Aisha S Traish, Vinay Aakalu, Iris S Kassem

Affiliations

  1. Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Ill., USA.
  2. 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.

PMID: 26600791 PMCID: PMC4649710 DOI: 10.1159/000441615

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.

Keywords: Ablepharon; Absent eyelids; Absent hair; Congenital eyelid anomalies; Macrostomia

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