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Anterior segment optical coherence tomography (AS-OCT) in epidermolysis bullosa patients

Title Epithelial thickness mapping with anterior segment optical coherence tomography (AS-OCT) in patients with epidermolysis bullosa 
Therapeutic Area Epidermolysis Bullosa
Principal Investigator Vicki M. Chen, MD
Min Age 7 Years
Gender All
Contact Michael Dixon
6 I 7-636-1051


Recessive dystrophic epidermolysis bullosa (RDEB) causes recurrent corneal abrasions, scarring and vision loss in the majority of patients. Treatment is supportive and there is no cure. One major limitation of therapeutic testing is the lack of established clinical tools for quantifying the severity of corneal disease. Clinicians rely solely on slit lamp exams and subjective reports of frequency and duration of symptoms. These parameters have not been correlated with visual outcomes or any other objective metrics. In the RDEB mouse model, the corneal epithelium is thickened (hypertrophied) in areas of prior injury, blistering or abrasion. It stands to reason that patients with EB may also show epithelial hyperplasia if the ocular surface was recently injured, blistered or abraded. New technology that measures epithelial thickness with anterior segment OCT (AS- OCT) may offer a no-risk, clinically viable tool to quantify severity of disease. Development of this powerful non-invasive tool would allow clinicians to monitor epithelial changes in response to treatments. It could have widespread application for assessment of other diseases of the corneal surface including aniridic pannus and chemical injury. 

Study Details

Inclusion Criteria

  • Group 1 (EB subjects): 150 subjects who self-report of epidermolysis bullosa diagnosis 
  • Group 2 (Age-Matched Controls): 150 subjects who do not have epidennolysis bullosa diagnosis; can be siblings or caregivers 

Exclusion Criteria

  • Subjects unable to be scanned due to physical limitations (unable to place chin on chin rest of the OCT machine)
  • Subjects unable to follow instructions for scanning

Study Requirements

There is only I research visit required for this study. 

Group 1: Recruitment will be from conference attendees at the Dystrophic Epidermolysis Bullosa (EB) Research Association of America (DEBRA) Conference. 
Group 2: Recruitment will be age-matched subjects of the Group 1 subjects. They can be siblings or caregivers. Recruitment will be completed at Tufts Medical Center and/or the conference attendees. 

Study procedures: 
Subjects will be asked to complete a questionnaire about EB, and will also have their vision tested. Next, photos will be taken of the subject's eyes with a device called an Anterior Segment OCT. You will be able to complete the study in one session and it will take about 20 minutes to complete.