Identification of a novel TGFBI gene mutation (p.Serine524Cystine) associated with late-onset recurrent epithelial erosions and Bowman layer opacities.

CONCLUSIONS: A novel TGFBI missense mutation is associated with a late-onset Bowman layer dystrophy. Given the atypical clinical appearance and course, molecular genetic analysis was utilized to establish a definitive diagnosis. PMID: 32880217 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research