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Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5

  • Published:2023-04-12 Issue:9 Volume:261 Page:2507-2516
  • ISSN:0721-832X
  • Container-title:Graefe's Archive for Clinical and Experimental Ophthalmology
  • language:en
  • Short-container-title:Graefes Arch Clin Exp Ophthalmol

Author:

Lando Leonardo,Nguyen Anne Xuan-Lan,Li Randa Tsz Ha,Megaw Roly,Dhillon Baljean,Borooah Shyamanga

Funder

Pan-American Association of Ophthalmology

International Society of Ocular Oncology

Wellcome Trust

LifeArc Philanthropic Fund

University of California, San Diego

Research to Prevent Blindness

Foundation Fighting Blindness

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference38 articles.

1. Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF (2003) Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. Hum Mol Genet 12:2657–2667. https://doi.org/10.1093/hmg/ddg289

2. Ayyagari R, Mandal MNA, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA (2005) Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci 46:3363–3371. https://doi.org/10.1167/iovs.05-0159

3. Mandal MN, Vasireddy V, Reddy GB, Wang X, Moroi SE, Pattnaik BR, Hughes BA, Heckenlively JR, Hitchcock PF, Jablonski MM, Ayyagari R (2006) CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Invest Ophthalmol Vis Sci 47:5505–5513. https://doi.org/10.1167/iovs.06-0312

4. Lando L, Borooah S (2022) Late-onset retinal degeneration: clinical perspectives. Clin Ophthalmol 16:3225–3246. https://doi.org/10.2147/opth.S362691

5. Milam AH, Curcio CA, Cideciyan AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG (2000) Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. Ophthalmology 107:2256–2266. https://doi.org/10.1016/s0161-6420(00)00419-x

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Long anterior lens zonules in late-onset retinal degeneration;Indian Journal of Ophthalmology - Case Reports;2024-04

2. Macular neovascularization in inherited retinal diseases: A review;Survey of Ophthalmology;2024-01
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