Dr. Jia-Horung Hung
(Ophthalmology Dept. of NCKU Hospital）

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Hereditary Epidermolysis Bullsosa (EB) patients are commonly known as “butterfly patients”. According to histopathology, the disease can be roughly divided into 4 categories: simplex epidermolysis bullosa (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome (KS).

 

In addition to skin blisters, many EB patients have eye symptoms. Among them, the cornea and conjunctiva are the most vulnerable parts. Corneal rupture and scarring due to repeated rupture are the most common ocular signs. According to research, the incidence of corneal damage varies in line with different types of EB (12-17% EBS, 12%-40% JEB, 4-16% DDEB, 51-53% RDEB, and 2% KS). Because of the high prevalence of eye symptoms in JEB and RDEB, ophthalmologists must bear in mind that the above two types of patients cannot be treated as general dry eye symptoms but require customized individual treatments.

 

Ocular symptoms could range from mild to severe. Mild symptoms include dry eye symptoms, conjunctival foreign body sensation, and blepharitis. Severe symptoms include erosion of the cornea and conjunctiva, serious skin breakage, scarring, eyelid ectropion, and symblepharon. Severe patients may even become blind and require corneal transplantation. If the patient was in childhood, because the cornea was injured on the Visual axis, there would be a risk of amblyopia afterwards.

 

The current main treatment method is supportive therapy. For asymptomatic patients, continuous usage of artificial tears without preservatives is recommended. For symptomatic patients, suggestions include using artificial tears without preservatives during the day and use ointments before going to bed, or treatment with autologous serum eye drops. For recurring corneal erosions, one can use therapeutic soft contact lenses and add topical antibiotic eye drops to prevent infection. For patients with eyelid entropion, a surgical correction could be considered, yet often is the case where graft surgery is required. However, even under active treatment, patients still often experience eye discomfort. Improvement in the treatment process is still under study.