Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2012 2
2013 1
2015 1
2016 3
2019 1
2021 2
2022 1
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.
Xu L, Ruddick WN, Bolch SN, Klingeborn M, Dyka FM, Kulkarni MM, Simpson CP, Beltran WA, Bowes Rickman C, Smith WC, Dinculescu A. Xu L, et al. Am J Pathol. 2023 Nov;193(11):1706-1720. doi: 10.1016/j.ajpath.2022.10.004. Epub 2022 Oct 31. Am J Pathol. 2023. PMID: 36328299 Free PMC article.
A pathologic feature of late-onset retinal degeneration caused by the S163R mutation in C1q-tumor necrosis factor-5 (C1QTNF5) is the presence of unusually thick deposits between the retinal pigmented epithelium (RPE) and the vascular choroid, considere …
A pathologic feature of late-onset retinal degeneration caused by the S163R mutation in C1q-tumor necrosis facto …
A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
Borooah S, Chekuri A, Pachauri S, Sahu B, Vorochikhina M, Suk JJ, Bartsch DU, Chavali VRM, Jablonski MM, Ayyagari R. Borooah S, et al. Adv Exp Med Biol. 2023;1415:335-340. doi: 10.1007/978-3-031-27681-1_48. Adv Exp Med Biol. 2023. PMID: 37440053
Late-onset retinal degeneration (L-ORD) is an autosomal dominant macular dystrophy resulting from mutations in the gene CTRP5/C1QTNF5. ...Presence of a significantly larger number of autofluorescent spots was observed in Ctrp5(-/-) mice compared …
Late-onset retinal degeneration (L-ORD) is an autosomal dominant macular dystrophy resulting from mutations in t …
Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR. Soumplis V, et al. Acta Ophthalmol. 2013 May;91(3):e191-5. doi: 10.1111/aos.12010. Epub 2013 Jan 7. Acta Ophthalmol. 2013. PMID: 23289492 Free article.
PURPOSE: To describe the ocular and electrophysiological phenotype of four patients with late-onset retinal degeneration (LORD). METHODS: Clinical examination, fundus and anterior segment photography, fundus autofluorescence imaging and spectral domain …
PURPOSE: To describe the ocular and electrophysiological phenotype of four patients with late-onset retinal degenera …
LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.
Cukras C, Flamendorf J, Wong WT, Ayyagari R, Cunningham D, Sieving PA. Cukras C, et al. Retina. 2016 Dec;36(12):2348-2356. doi: 10.1097/IAE.0000000000001113. Retina. 2016. PMID: 27388725 Free PMC article.
PURPOSE: To characterize longitudinal structural changes in early stages of late-onset retinal degeneration to investigate pathogenic mechanisms. ...During follow-up, these affected areas developed confluent thickening of the retinal pigment epithelial …
PURPOSE: To characterize longitudinal structural changes in early stages of late-onset retinal degeneration to i …
MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration.
Keenan TDL, Vanderford EK, de Silva T, Sieving PA, Cukras CA. Keenan TDL, et al. Retina. 2021 Nov 1;41(11):2236-2245. doi: 10.1097/IAE.0000000000003205. Retina. 2021. PMID: 33990119 Free PMC article.
PURPOSE: To describe longitudinal multimodal imaging findings of nonexudative choroidal neovascularization in CTRP5 late-onset retinal degeneration. METHODS: Four patients with CTRP5-positive late-onset retinal degeneration …
PURPOSE: To describe longitudinal multimodal imaging findings of nonexudative choroidal neovascularization in CTRP5 late-onset …
The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E. Vincent A, et al. Retina. 2012 Sep;32(8):1643-51. doi: 10.1097/IAE.0b013e318240a574. Retina. 2012. PMID: 22277927
PURPOSE: To describe the clinical, spectral-domain optical coherence tomography and electrophysiological features of C1QTNF5-associated late-onset retinal degeneration in a molecularly confirmed pedigree. ...Electroretinography was normal in early stag …
PURPOSE: To describe the clinical, spectral-domain optical coherence tomography and electrophysiological features of C1QTNF5-associated l …
An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.
Torrell-Belzach N, Miere A, Bhouri R, Srour M, Souied EH, Zambrowski O. Torrell-Belzach N, et al. Doc Ophthalmol. 2024 Feb;148(1):57-64. doi: 10.1007/s10633-023-09958-3. Epub 2023 Dec 21. Doc Ophthalmol. 2024. PMID: 38129706
PURPOSE: The purpose of this study was to describe and diagnose the difficulty in a long-term follow-up (eleven years) patient with a very early presentation of late-onset retinal degeneration (L-ORD) and the significance of electrophysiological examin …
PURPOSE: The purpose of this study was to describe and diagnose the difficulty in a long-term follow-up (eleven years) patient with a very e …
Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.
Sahu B, Chavali VR, Alapati A, Suk J, Bartsch DU, Jablonski MM, Ayyagari R. Sahu B, et al. Mol Vis. 2015 Mar 13;21:273-84. eCollection 2015. Mol Vis. 2015. PMID: 25814825 Free PMC article.
In this study, we investigated the influence of the rd8 mutation on the retinal pathology that we previously described in the late-onset retinal degeneration (L-ORD) mouse model with a heterozygous S163R mutation in the C1q-tumor necrosis factor-relate …
In this study, we investigated the influence of the rd8 mutation on the retinal pathology that we previously described in the late- …
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients.
Jung H, Liu J, Liu T, George A, Smelkinson MG, Cohen S, Sharma R, Schwartz O, Maminishkis A, Bharti K, Cukras C, Huryn LA, Brooks BP, Fariss R, Tam J. Jung H, et al. JCI Insight. 2019 Mar 21;4(6):e124904. doi: 10.1172/jci.insight.124904. eCollection 2019 Mar 21. JCI Insight. 2019. PMID: 30895942 Free PMC article.
After a short, dynamic period during which RPE cells take up i.v.-administered indocyanine green (ICG) dye, we observed a remarkably stable heterogeneity in the fluorescent pattern that gradually disappeared over a period of days. ...Investigation of ICG uptake in primary …
After a short, dynamic period during which RPE cells take up i.v.-administered indocyanine green (ICG) dye, we observed a remarkably …
Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.
Forman OP, Hitti RJ, Boursnell M, Miyadera K, Sargan D, Mellersh C. Forman OP, et al. Mamm Genome. 2016 Jun;27(5-6):237-45. doi: 10.1007/s00335-016-9627-x. Epub 2016 Mar 26. Mamm Genome. 2016. PMID: 27017229
The fusion of these two genes, which we have called MAP9 EORD (microtubule-associated protein, early onset retinal degeneration), is in frame and is expressed at the RNA level, with the 3' region containing several predicted deleterious variants. We speculate that MAP9 ass …
The fusion of these two genes, which we have called MAP9 EORD (microtubule-associated protein, early onset retinal degeneration), is in fram …
14 results