Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2021 Oct;35(10):2901-2902.
doi: 10.1038/s41433-020-01212-3. Epub 2020 Oct 1.

CDHR1-related late-onset macular dystrophy: further insights

Affiliations
Comment

CDHR1-related late-onset macular dystrophy: further insights

Imran H Yusuf et al. Eye (Lond). 2021 Oct.
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no conflict of interest.

Comment on

References

    1. Ba-Abbad R, Robson AG, Mahroo OA, Wright G, Schiff E, Duignan ES, et al. A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy. Eye. 2020. - PMC - PubMed
    1. Rattner A, Smallwood PM, Williams J, Cooke C, Savchenko A, Lyubarsky A, et al. A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival. Neuron. 2001;32:775–86. doi: 10.1016/S0896-6273(01)00531-1. - DOI - PubMed
    1. Rattner A, Chen J, Nathans J. Proteolytic shedding of the extracellular domain of photoreceptor cadherin. Implications for outer segment assembly. J Biol Chem. 2004;279:42202–10. doi: 10.1074/jbc.M407928200. - DOI - PubMed
    1. Burgoyne T, Meschede IP, Burden JJ, Bailly M, Seabra MC, Futter CE. Rod disc renewal occurs by evagination of the ciliary plasma membrane that makes cadherin-based contacts with the inner segment. Proc Natl Acad Sci USA. 2015;112:15922–7. doi: 10.1073/pnas.1509285113. - DOI - PMC - PubMed
    1. Charbel Issa P, Gliem M, Yusuf IH, Birtel J, Müller PL, Mangold E, et al. A specific macula-predominant retinal phenotype is associated with the CDHR1 variant c.783G>A, a silent mutation leading to in-frame exon skipping. Investig Ophthalmol Vis Sci. 2019;60:3388–97. doi: 10.1167/iovs.18-26415. - DOI - PubMed