Abstract
C1QTNF5 (previously called CTRP5) encodes C1q tumor necrosis factor-related protein and is highly expressed in the retinal pigment epithelium (RPE), lens, and ciliary epithelium. C1QTNF5 plays an important role in the adhesion of the RPE to the Bruch Membrane, and mutations are thought to impair the adhesion, resulting in sub-RPE deposits. Mutations in C1QTNF5 are associated with late-onset retinal degeneration (LORD).
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References
Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, et al. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). Acta Ophthalmol. 2013;91(3):e191–5.
Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E. The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina. 2012;32(8):1643–51.
Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, et al. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005;46(9):3363–71.
Subrayan V, Morris B, Armbrecht AM, Wright AF, Dhillon B. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). Am J Ophthalmol. 2005;140(6):1127–9.
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Zahid, S. et al. (2018). C1QTNF5 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_25
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DOI: https://doi.org/10.1007/978-3-319-10867-4_25
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