Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene.
Marisol Ibarra-RamírezMarissa L Fernández-de-LunaLuis Daniel Campos-AcevedoJoel Arenas-EstalaLaura Elia Martínez-de-VillarrealClaudia Rodríguez-GarzaOscar DeLagarza-PinedaJibran Mohamed-NoriegaPublished in: Ophthalmic genetics (2023)
WRWFFR is an ultra-rare disease with X-linked inheritance by variants in the ZC4H2 gene. This case reports a girl with a novel nonsense variant in the ZC4H2 gene and a severe phenotype; previous reports have identified WRWFFR in females with large deletions and nonsense mutations which could explain the manifestations in the current case report. A complete ophthalmic examination should be considered in patients with WRWFFR to detect the possibly associated optic nerve involvement and other previously described manifestations such as ptosis and strabismus.