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Case Reports

Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function

ORCID Icon, , , , &
Pages 201-206 | Received 02 Mar 2023, Accepted 30 Aug 2023, Published online: 20 Sep 2023

References

  • Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR. Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. Mol Vis. 2010;16:46.
  • Ostergaard E, Batbayli M, Duno M, Vilhelmsen K, Rosenberg T. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. J Med Genet. 2010;47(10):665–9. doi:10.1136/jmg.2009.069120.
  • 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. 2015;112(52):15922–7.
  • Yusuf IH, McClements ME, MacLaren RE, Issa PC. Deep phenotyping of the Cdhr1−/− mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration. Exp Eye Res. 2021;208:108603.
  • Rattner A, Smallwood PM, Williams J, Cooke C, Savchenko A, Lyubarsky A, Pugh EN, Nathans J. A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival. Neuron. 2001;32(5):775–86. doi:10.1016/S0896-6273(01)00531-1.
  • Ba-Abbad R, Sergouniotis PI, Plagnol V, Robson AG, Michaelides M, Holder GE, Webster AR. Clinical characteristics of early retinal disease due to CDHR1 mutation. Mol Vis. 2013;19:2250–9.
  • Issa PC, Gliem M, Yusuf IH, Birtel J, Müller PL, Mangold E, Downes SM, MacLaren RE, Betz C, Bolz HJ, 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. Invest Ophthalmol Visual Sci. 2019;60(10):3388–97. doi:10.1167/iovs.18-26415.
  • Ba-Abbad R, Robson AG, Mahroo OA, Wright G, Schiff E, Duignan ES, Michaelides M, Arno G, Webster AR. A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy. Eye. 2021;35(5):1482–9. doi:10.1038/s41433-020-1045-3.
  • Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, et al. Clinical phenotypes of CDHR1-associated retinal dystrophies. Genes. 2022;13(5):925. doi:10.3390/genes13050925.
  • Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N, et al. CDHR1 mutations in retinal dystrophies. Sci Rep. 2017;7(1):1–11. doi:10.1038/s41598-017-07117-8.
  • 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(1):51–5. doi:10.1080/13816810.2017.1363244.
  • Pfau M, Jolly JK, Wu Z, Denniss J, Lad EM, Guymer RH, Fleckenstein M, Holz FG, Schmitz-Valckenberg S. Fundus-controlled perimetry (microperimetry): application as outcome measure in clinical trials. Prog Retin Eye Res. 2021;82:100907. doi:10.1016/j.preteyeres.2020.100907.
  • Taylor LJ, Josan AS, Pfau M, Simunovic MP, Jolly JK. Scotopic microperimetry: evolution, applications and future directions. Clin Exp Optom. 2022;105(8):1–8. doi:10.1080/08164622.2021.2023477.
  • Heeren TF, Tzaridis S, Bonelli R, Pfau M, Fruttiger M, Okada M, Egan C, Charbel Issa P, Holz FG. Dark-adapted two-color fundus-controlled perimetry in macular telangiectasia type 2. Invest Ophthalmol Visual Sci. 2019;60(5):1760–7. doi:10.1167/iovs.18-25360.
  • Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, et al. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Hum Genet. 2013;21(3):274–80. doi:10.1038/ejhg.2012.172.
  • Kaukonen M, McClements ME, MacLaren RE. CRISPR DNA base editing strategies for treating retinitis pigmentosa caused by mutations in Rhodopsin. Genes. 2022;13(8):1327. doi:10.3390/genes13081327.
  • Han RC, Gray JM, Han J, Maclaren RE, Jolly JK. Optimisation of dark adaptation time required for mesopic microperimetry. Br J Ophthalmol. 2019;103(8):1092–8. doi:10.1136/bjophthalmol-2018-312253.
  • Adeyoju DAO, Taylor LJ, Josan AS, Jolly JK, MacLaren RE. Scotopic microperimetry: a volumetric analysis of healthy controls. Invest Ophthalmol Visual Sci. 2022;63(7):2247–F0455.
  • Broad Institute. Single Nucleotide Variant: 10-85964282- G-C (GRCh37). [accessed 2022 Dec 29]. https://gnomad.broadinstitute.org/variant/10-85964282-G-C?dataset=gnomad_r2_1.
  • Broad Institute. Single Nucleotide variant: 10-85961599-G-A(grch37). [accessed 2022 Dec 29]. https://gnomad.broadinstitute.org/gene/ENSG00000148600?dataset=gnomad_r2_1.
  • Yusuf IH, MacLaren RE, Charbel Issa P. CDHR1-related late-onset macular dystrophy: further insights. Eye. 2021;35(10):2901–2. doi:10.1038/s41433-020-01212-3.
  • 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(40):42202–10. doi:10.1074/jbc.M407928200.
  • Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE. Clinical and molecular characterization of PROM1-related retinal degeneration. JAMA Netw Open. 2019;2(6):e195752. doi:10.1001/jamanetworkopen.2019.5752.
  • Yusuf IH, Garrett A, MacLaren RE, Issa PC. Retinal cadherins and the retinal cadherinopathies: current concepts and future directions. Prog Retin Eye Res. 2022;90:101038. doi:10.1016/j.preteyeres.2021.101038.
  • Marchler-Bauer A, Lu S, Anderson JB, Chitsaz F, Derbyshire MK, DeWeese-Scott C, Fong JH, Geer LY, Geer RC, Gonzales NR, et al. CDD: a conserved domain suppl_1 for the functional annotation of proteins. Nucleic Acids Res. 2010;39(Database):D225–D9. doi:10.1093/nar/gkq1189.
  • Esefinder 3.0. [accessed 2023 Jan 15]. http://exon.cshl.edu/ESE/.

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