Eye Care in Epidermolysis Bullosa (EB)

Ocular surface disease activity, particularly corneal, are common in Epidermolysis Bullosa, therefore, careful ophthalmologic examination should become an integral part of the management of all patients with inherited EB. However, the incidences of eye problem are different for each subtype of EB and varies significantly for each EB patient.  Eye complications are most severe in the dystrophic recessive (RDEB) (46%) and junctional group (JEB) (40%) where strict vigilance is mandatory. The eye and skin surface are quite similar. The collagen VII and laminin-322 are the natural material in eye surface and skins that holds the surface cells together. People with EB do not have normal anchoring or holding structure leading to abrasions of the eye and skin surface. The corneal abrasion can get secondary infection leading to ulceration and if not treated timely, perforation of the eye. Therefore, all patients with EB must have their regular eye examination.

When do these problems start?

  • The risk of eye complication is in every patient of EB, however the risks are higher in JEB and RDEB patients
  • In some children it can start as early as 4 months of age
  • 30% of JEB and 10% of RDEB patients can develop corneal scar within first decade of life, which can impair visual development

Problems

  1. Dry eyes
  2. Watery eyes from clogged tear duct (obstruction) system
  3. Inflammation of cornea usually due to secondary infection
  4. Severe dryness causes corneal scarring and abnormal blood vessels to grow that can impair the vision
  5. Blepharitis, a condition where oil glands in lid can get damaged leading to poor tear film stability of the ocular surface.  
  6. Amblyopia or lazy eye: poor vision development that can be permanent

Management

Dryness can be prevented by using eye lubricants

  1. Chose ointments & drops without preservatives as much as possible. However, in Pakistan non-preservative drops are not easily available.
  2. Avoid lanolin alcohols if possible (known skin irritants in some “preservative free” ointments)
  3. Hydration makes a huge difference in patients with dry eyes
  4. Sleep can impact the level of tear production and dry eye symptoms. Applying lubricant ointment while the patient goes to sleep, or when is sleeping can improve eye lubrication.
  5. Humidifier in the bedroom and removal of fans can help improve dry eyes. Cool humidifier increases moisture in the eye and increase moisture reduces tear evaporation that improves dry eye symptoms.
  6. If a patient develops corneal abrasion, the standard of care is to see patients every 2-3 days until abrasion is healed

Inflammation can be treated as Some injury may be avoidable. However, it is Important to recognize scarring in young children to avoid Amblyopia- a type of poor vision that happen in just one eye. Amblyopia is reversible if diagnosed before age 12 years

  1. Prevent eyelid inflammation (blepharitis) by using warm compresses to clean and open oil glands.
  2. Omega 3 fatty acids supplements are useful as they have anti- inflammatory properties.
  3. Best treatment for corneal inflammation is steroid eye drops, but steroid eye drops cause glaucoma in 15% of adults and up to 50% of children. Moreover, use of steroid in corneal infection can exacerbate the situation. It is therefore recommended to never use steroid eye drops without consultation from an ophthalmologist.
  4. Corneal infection requires aggressive antibiotic treatment
  5. Placement of BCL (Bandage Contact Lens) by an expert can speed up healing.
  6. Non healing ulceration can improve with amniotic membrane graft and /or conjunctival autograft.

Vision loss is caused by Scarring

  1. Corneal scaring can cause amblyopia or lazy eye. This occurs as appropriate light does not enter light and the visual system does not develop appropriately.
  2. Amblyopia is sometimes reversible with treatment

Tips to Prevent Injury

  • If visiting sandy areas (beach) bring artificial tear drops to rinse eyes regularly
  • A good dose of ointment every morning and before going to bed might prevent abrasions
  • Avoid eye rubbing! If the patient has itchy eyes, use cool compress and allergy eye drops
  • Avoid fans in the bedroom (fan and air conditioning can dry the eyes and the patient may rub while sleeping)
  • The use of lubricating eye drops every 1 hour is useful in severe cases