Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients-Reference-Cited by-同舟云学术

Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients

Published:2024-06-13 Issue: Volume: Page:
ISSN:0721-832X
Container-title:Graefe's Archive for Clinical and Experimental Ophthalmology
language:en
Short-container-title:Graefes Arch Clin Exp Ophthalmol

Author:

Subirà Olaia^ORCID,Català-Mora Jaume,del Prado Cristina,Díaz-Cascajosa Jesús,Barraso Rodrigo Marina,Cobos Estefanía,Aguilera Cinthia,Esteve-Garcia Anna,García-Arumí José,Caminal Josep M.

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00417-024-06545-3.pdf

Reference36 articles.

1. Milam AH, Li ZY, Fariss RN (1998) Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res 17(2):175–205. https://doi.org/10.1016/S1350-9462(97)00012-8

2. Yan D, Liu XZ (2010) Genetics and pathological mechanisms of Usher syndrome. J Hum Genet 55(6):327–335. https://doi.org/10.1038/jhg.2010.29

3. Bonnet C, Riahi Z, Chantot-bastaraud S et al (2016) An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur J Hum Genet 24(12):1730–1738. https://doi.org/10.1038/ejhg.2016.99

4. Jacobson SG, Cideciyan AV, Aleman TS et al (2008) Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet 17(15):2405–2415. https://doi.org/10.1093/hmg/ddn140

5. Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS (1995) Expression in cochlea and retina of myosin VIIa, the gene product defective in usher syndrome type 1B. Proc Natl Acad Sci U S A 92(21):9815–9819. https://doi.org/10.1073/pnas.92.21.9815