Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature

CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310
Source: Ophthalmic Genetics - Category: Opthalmology Authors: Source Type: research