Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.
Ezequiel Campos-MolloYago Varela-CondePedro Arriola-VillalobosRubén Cabrera-BeyroutiJosé-Manuel Benítez-Del-CastilloMiguel J MaldonadoJulio EscribanoPublished in: Clinical & experimental ophthalmology (2019)
To the best of our knowledge, we describe a detailed clinical characterization of the largest CD cohort carrying the TGFBI p.(L558P) variant. We propose that the atypical phenotype of this recently reported alteration can be classified as a form of LCD type IV. The results show that OCT and anterior-posterior analysis of the stromal location of the opacities, along with a genetic analysis of TGFBI, are required to ensure accurate diagnosis and management of CDs.
Keyphrases
- transforming growth factor
- end stage renal disease
- epithelial mesenchymal transition
- newly diagnosed
- ejection fraction
- optical coherence tomography
- chronic kidney disease
- genome wide
- quantum dots
- high resolution
- early onset
- gene expression
- patient reported outcomes
- copy number
- patient reported
- mass spectrometry
- endothelial cells