Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

CDHR1-related late-onset macular dystrophy: further insights

This is a preview of subscription content

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 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.

  2. 2.

    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.

    CAS  Article  Google Scholar 

  3. 3.

    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.

    CAS  Article  Google Scholar 

  4. 4.

    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.

    CAS  Article  Google Scholar 

  5. 5.

    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.

    Article  Google Scholar 

  6. 6.

    Birtel J, Eisenberger T, Gliem M, Muller PL, Herrmann P, Betz C, et al. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep. 2018;8:4824.

    Article  Google Scholar 

  7. 7.

    Bessette AP, DeBenedictis MJ, Traboulsi EI. Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature. Ophthalmic Genet. 2018;39:51–5.

    CAS  Article  Google Scholar 

Download references

Funding

IHY is funded by MRC and REM is funded by NIHR and MRC.

Author information

Affiliations

Authors

Corresponding author

Correspondence to Peter Charbel Issa.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Yusuf, I.H., MacLaren, R.E. & Charbel Issa, P. CDHR1-related late-onset macular dystrophy: further insights. Eye 35, 2901–2902 (2021). https://doi.org/10.1038/s41433-020-01212-3

Download citation

Search

Quick links