Long-term outcome after superficial keratectomy in an infant with epidermolysis bullosa

Area of Science:

• Ophthalmology
• Dermatology
• Genetics

Background:

• Congenital corneal opacities can impair vision and require prompt management.
• Epidermolysis bullosa (EB) is a group of genetic blistering skin disorders that can have ocular manifestations.
• A family history of similar skin lesions suggests a potential genetic component.

Observation:

• A 5-month-old boy presented with a central congenital corneal lesion.
• The child and his father had a history of recurrent skin blistering with minor trauma.
• The corneal lesion was located centrally, impacting the visual axis.

Findings:

• Superficial anterior keratectomy and amniotic membrane grafting were performed to address the corneal lesion.
• The procedure resulted in successful healing, corneal transparency restoration, and good visual acuity.
• At age 4, the child maintained a clear cornea with a best-corrected visual acuity of 20/60 in the affected eye, showing no recurrence.

Implications:

• Early surgical intervention for congenital corneal lesions can preserve and restore vision.
• Ocular manifestations should be considered in infants with a history of skin blistering disorders.
• This case highlights the importance of a multidisciplinary approach in managing genetic conditions with systemic and ocular involvement.