Severe bilateral descemetoceles in Alpha-1 antitrypsin deficiency

Abstract

Purpose To report a case of severe bilateral descemetoceles in a patient with alpha-1 antitrypsin (A1AT) deficiency during intensive care unit hospitalization. Observations A 42-year-old male presented with sub-acute bilateral vision loss during an intensive care unit hospitalization following liver and kidney transplantations. On exam, this patient's best-corrected visual acuity was 20/80 in both eyes. There were bilateral descemetoceles inferotemporally in both eyes with overlying epithelial defects and dense surrounding punctate epithelial staining. The patient was initially treated with gatifloxacin drops and frequent lubricating ointment. Given the concern for impending perforation, cyanoacrylate glue with bandage contact lens was applied to both eyes. His best corrected visual acuity remained unchanged in the right eye and improved to 20/30 in the left eye. Upon medical stabilization, anterior lamellar graft was performed in the right eye, with plans for the same treatment in the left eye in the future. Conclusions As A1AT is found in the tear film and is believed to play a role in regulating protease activity in the cornea, we hypothesize that this patient's A1AT deficiency exacerbated the progression of corneal ulceration leading to severe descemetocele formation.

Assessing Patients with Alpha-1 Antitrypsin Deficiency for Corneal Refractive Surgery: A Review and Clinical Experience

“…Patients with a history of recent hospitalization requiring intubation/sedation have some degree of exposure keratopathy as they do not regularly refresh a protective tear layer. For patients with AATD, the lack of lubrication leads to more severe ocular effects, such as the presence of severe descemetoceles [ 20 ]. Treatment for descemetoceles may be limited by the patient’s comorbid medical conditions.…”

“…Treatment for descemetoceles may be limited by the patient’s comorbid medical conditions. Progression of the descemetocele is common and may require therapeutic interventions (e.g., tectonic keratoplasty) [ 20 ]. The increased severity of corneal epithelial defects suggests the importance of ophthalmologic evaluation for patients with AATD after a prolonged hospitalization [ 20 ].…”