Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies

• Main Author: Westin, Ida Maria
• Format: Doctoral or Postdoctoral Thesis
• Language: English
• Published: Umeå universitet, Medicinsk och klinisk genetik 2022
• Subjects: Genetics; Epigenetics; Splicing; Methylation; Ophtalmology; FECD; Stargardt; Retinitis pigmentosa; ABCA4; EYS; TCF4; F5; THBD; Coagulation factor V; Thrombomodulin; Medical Genetics; Medicinsk genetik; Ophthalmology; Oftalmologi; Fuchs; Northern Sweden
• Online Access: http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-200205

Inherited eye disorders (IED) are groups of genetically and clinically heterogenous conditions affecting different tissues in the eye. IED are most often progressive with reduced vision or legal blindness as outcome. This thesis is focused on investigating the underlying mechanisms in Fuchs’ endothe...