ArticleAmerican journal of ophthalmology case reports2026
Ophthalmic phenotype associated with a novel mutation in
Article in American journal of ophthalmology case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Intermediate Junctional Epidermolysis Bullosa (JEB) is an extremely rare condition, with an incidence of slightly more than two per million live births. Patients with Epidermolysis Bullosa are classified using the "onion skinning" approach, which includes the major EB type, phenotypic characteristics, inheritance mode, targeted protein and its skin expression, gene involved, mutation types, and specific mutation(s) and location. This facilitates recognition of syndromic EB and aids in genetic counseling. Purpose: To report a patient with Intermediate JEB, perform a detailed ophthalmic evaluation, and identify the genetic cause through testing. Results: A 13-year-old girl presented with recurrent epithelial erosions since 2015, with minimal or no trauma. Ophthalmic exam revealed bilateral faint corneal opacities and prominent corneal innervation. Systemic findings included hypodontia and hypopigmentation of the forearms and retroauricular region. Whole exome sequencing revealed a homozygous c.2137+2T > G variant in the Conclusion: The ocular, dental, and dermal findings support a diagnosis of EB, highlighting the importance of multidisciplinary evaluation. Identification of this novel
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