Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling-Reference-Cited by-同舟云学术

Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling

Published:2023-01-17 Issue:7 Volume:261 Page:2003-2017
ISSN:0721-832X
Container-title:Graefe's Archive for Clinical and Experimental Ophthalmology
language:en
Short-container-title:Graefes Arch Clin Exp Ophthalmol

Author:

Gopinath Chitra,Rompicherla Ramya,Mathias Grace Priyaranjini,Patil Rajeshwari,Poornachandra B.,Vinekar Anand,Mochi Thirumalesh B.,Braganza Sherine,Shetty K. Bhujang,Kumaramanickavel Govindasamy,Ghosh Anuprita^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Link

https://link.springer.com/content/pdf/10.1007/s00417-022-05955-5.pdf

Reference40 articles.

1. Hanany M, Rivolta C, Sharon D (2020) Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. J Proc Natl Acad Sci 117:2710–2716. https://doi.org/10.1073/pnas.1913179117%

2. Tatour Y, Ben-Yosef T (2020) Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects. Diagnostics (Basel, Switzerland) 10. https://doi.org/10.3390/diagnostics10100779

3. Talib M, Boon CJF (2020) Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations. Asia Pac J Ophthalmol (Phila) 9:159–179. https://doi.org/10.1097/apo.0000000000000290

4. Berger W, Kloeckener-Gruissem B, Neidhardt J (2010) The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 29:335–375. https://doi.org/10.1016/j.preteyeres.2010.03.004

5. Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F (2011) Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics 12:238–249. https://doi.org/10.2174/138920211795860107

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