CDHR1-related late-onset macular dystrophy: further insights
Author:
Funder
RCUK | Medical Research Council
DH | National Institute for Health Research
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
https://www.nature.com/articles/s41433-020-01212-3.pdf
Reference7 articles.
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. 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.
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.
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.
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.
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