Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.

CONCLUSIONS: PAX6 coding mutations influence AAK phenotype and progression from the earliest stages of life. A minimal keratopathy present in 100% of congenital aniridia cases is independent of the specific mutation and consists of increased corneal thickness, reduced touch sensitivity, and increased immune activity.
PMID: 31734509 [PubMed - as supplied by publisher]

Source: The Ocular Surface - November 13, 2019 Category: Opthalmology Authors: Lagali N, Wowra B, Fries FN, Latta L, Moslemani K, Utheim TP, Wylegala E, Seitz B, Käsmann-Kellner B Tags: Ocul Surf Source Type: research