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Late-Onset Retinal Degeneration

Also Known As:

Retinal Degeneration, Late-Onset, Autosomal Dominant

Networked: 30 relevant articles (0 outcomes, 7 trials/studies)

Disease Context: Research Results

Eye Diseases: 3620
- Retinal Diseases: 3134
  - Retinal Degeneration: 4173
    - Late-Onset Retinal Degeneration: 30
- Hereditary Eye Diseases: 19
  - Retinal Degeneration: 4173
    - Late-Onset Retinal Degeneration: 30

Related Diseases

1.	Necrosis
2.	Atrophy
3.	Macular Degeneration (Age-Related Maculopathy)
4.	Retinal Dystrophies
5.	Choroidal Neovascularization

Experts

1.	Browning, Andrew C: 4 articles (11/2022 - 04/2015)
2.	Papastavrou, Vasileios T: 4 articles (11/2022 - 04/2015)
3.	Ayyagari, Radha: 4 articles (01/2015 - 12/2006)
4.	Borooah, Shyamanga: 3 articles (01/2022 - 01/2017)
5.	Dhillon, Baljean: 3 articles (06/2021 - 10/2003)
6.	Chavali, Venkata R M: 3 articles (01/2015 - 05/2011)
7.	Jablonski, Monica M: 3 articles (01/2015 - 12/2006)
8.	Moosajee, Mariya: 2 articles (12/2023 - 12/2019)
9.	Dinculescu, Astra: 2 articles (11/2023 - 10/2015)
10.	Dyka, Frank M: 2 articles (11/2023 - 10/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Late-Onset Retinal Degeneration:

1.	Retinaldehyde (Retinal)IBA 12/01/2023 - "The purpose of this study was to present our findings on the natural history of late-onset retinal degeneration (LORD) in patients with molecularly confirmed C1QTNF5 heterozygous pathogenic variants and assess suitability of retinal structure parameters for disease monitoring. " 12/01/2023 - "The purpose of this study was to present our findings on the natural history of late-onset retinal degeneration (LORD) in patients with molecularly confirmed C1QTNF5 heterozygous pathogenic variants and assess suitability of retinal structure parameters for disease monitoring. " 08/01/1996 - "To determine the pathogenesis of an autosomal dominant late-onset retinal degeneration by studies of the retinal histopathology, phenotype of family members, and candidate genes for the disease. " 12/01/2023 - "Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration." 12/01/2023 - "Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2016 - "The gene that encodes C1q/TNF-related protein 5 (CTRP5), a secreted protein of the C1q family, is mutated in individuals with late-onset retinal degeneration. " 12/01/2006 - "In a prior study, a S163R mutation in the complement-1q tumor necrosis factor-related protein 5 (CTRP5/ C1QTNF5) was reported to be associated with early-onset long anterior zonules (LAZ) and late-onset retinal degeneration (L-ORD). " 01/01/2015 - "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-related protein-5Ctrp5+/- gene that was generated on a C57BL/6J background. "
3.	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 12/01/2006 - "In a prior study, a S163R mutation in the complement-1q tumor necrosis factor-related protein 5 (CTRP5/ C1QTNF5) was reported to be associated with early-onset long anterior zonules (LAZ) and late-onset retinal degeneration (L-ORD). " 10/01/2015 - "The mutation S163R in complement C1q tumor necrosis factor-related protein-5 (C1QTNF5) causes an autosomal dominant disorder known as late-onset retinal degeneration (L-ORD). " 10/01/2021 - ": L-ORD: Late-onset retinal degeneration; C1QTNF5: complement 1Q tumor necrosis factor 5; OCT: Ocular coherence tomography; BCVA: Best-corrected visual acuity; RPE: Retinal pigment epithelium; ffERG: Full-field electroretinography; IRD: Inherited retinal dystrophy; CNV: Choroidal neovascularization; LAZ: Long anteriorly inserted zonules; AMPK: AMP-activated protein kinase; IOP: Intraocular pressure; cSLO: confocal scanning laser ophthalmoscopy; BAF: Blue light autofluorescence; NIR-AF: Near-infrared autofluorescence; NIR-R: Near-infrared reflectance; RF: Red-free; SD-OCT: Spectral domain ocular coherence tomography; HRR: Hardy-Rand-Rittler pseudo-isochromatic plates; AS: anterior segment; UBM: ultrasound biomicroscopy; PCR: Polymerase chain reaction; SNP: Single nucleotide polymorphism; VEGF: Vascular endothelial growth factor; IZ: Interdigitation zone; EZ: Ellipsoid zone; ELM: External limiting membrane; LP: Light perception; AMD: Age-related macular degeneration; SFD: Sorsby fundus dystrophy."
4.	Biomarkers (Surrogate Marker)IBA 11/01/2022 - "This study has found that the monitoring of the progression of ellipsoid zone disruption and changes in mesopic microperimetry may be useful biomarkers in future clinical trials in patients with late-onset retinal degeneration." 11/01/2022 - "To characterize the progression of structural and functional changes in the retinas of a small cohort of unrelated patients with early late-onset retinal degeneration and evaluate these changes as potential biomarkers for future treatment trials. "
5.	Complement C1q (C1q Complement)IBA 10/01/2015 - "The mutation S163R in complement C1q tumor necrosis factor-related protein-5 (C1QTNF5) causes an autosomal dominant disorder known as late-onset retinal degeneration (L-ORD). " 10/01/2021 - ": L-ORD: Late-onset retinal degeneration; C1QTNF5: complement 1Q tumor necrosis factor 5; OCT: Ocular coherence tomography; BCVA: Best-corrected visual acuity; RPE: Retinal pigment epithelium; ffERG: Full-field electroretinography; IRD: Inherited retinal dystrophy; CNV: Choroidal neovascularization; LAZ: Long anteriorly inserted zonules; AMPK: AMP-activated protein kinase; IOP: Intraocular pressure; cSLO: confocal scanning laser ophthalmoscopy; BAF: Blue light autofluorescence; NIR-AF: Near-infrared autofluorescence; NIR-R: Near-infrared reflectance; RF: Red-free; SD-OCT: Spectral domain ocular coherence tomography; HRR: Hardy-Rand-Rittler pseudo-isochromatic plates; AS: anterior segment; UBM: ultrasound biomicroscopy; PCR: Polymerase chain reaction; SNP: Single nucleotide polymorphism; VEGF: Vascular endothelial growth factor; IZ: Interdigitation zone; EZ: Ellipsoid zone; ELM: External limiting membrane; LP: Light perception; AMD: Age-related macular degeneration; SFD: Sorsby fundus dystrophy."
6.	afliberceptIBA 05/22/2023 - "Macular Neovascularization in a Case of Late-Onset Retinal Degeneration Treated with Aflibercept." 04/01/2015 - "[Management of a choroidal neovascular membrane with aflibercept in a patient with a rare, autosomal dominant late-onset retinal degeneration: case report]."
7.	AMP-Activated Protein KinasesIBA 10/01/2021 - ": L-ORD: Late-onset retinal degeneration; C1QTNF5: complement 1Q tumor necrosis factor 5; OCT: Ocular coherence tomography; BCVA: Best-corrected visual acuity; RPE: Retinal pigment epithelium; ffERG: Full-field electroretinography; IRD: Inherited retinal dystrophy; CNV: Choroidal neovascularization; LAZ: Long anteriorly inserted zonules; AMPK: AMP-activated protein kinase; IOP: Intraocular pressure; cSLO: confocal scanning laser ophthalmoscopy; BAF: Blue light autofluorescence; NIR-AF: Near-infrared autofluorescence; NIR-R: Near-infrared reflectance; RF: Red-free; SD-OCT: Spectral domain ocular coherence tomography; HRR: Hardy-Rand-Rittler pseudo-isochromatic plates; AS: anterior segment; UBM: ultrasound biomicroscopy; PCR: Polymerase chain reaction; SNP: Single nucleotide polymorphism; VEGF: Vascular endothelial growth factor; IZ: Interdigitation zone; EZ: Ellipsoid zone; ELM: External limiting membrane; LP: Light perception; AMD: Age-related macular degeneration; SFD: Sorsby fundus dystrophy."
8.	Mutant Proteins (Protein, Mutant)IBA 03/01/2007 - "A heterozygous truncation mutation in HRG4 was found in a patient with late onset cone-rod dystrophy, and a transgenic (TG) mouse expressing the identical mutant protein developed late onset retinal degeneration, confirming the pathogenic potential of HRG4. "
9.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 10/01/2021 - ": L-ORD: Late-onset retinal degeneration; C1QTNF5: complement 1Q tumor necrosis factor 5; OCT: Ocular coherence tomography; BCVA: Best-corrected visual acuity; RPE: Retinal pigment epithelium; ffERG: Full-field electroretinography; IRD: Inherited retinal dystrophy; CNV: Choroidal neovascularization; LAZ: Long anteriorly inserted zonules; AMPK: AMP-activated protein kinase; IOP: Intraocular pressure; cSLO: confocal scanning laser ophthalmoscopy; BAF: Blue light autofluorescence; NIR-AF: Near-infrared autofluorescence; NIR-R: Near-infrared reflectance; RF: Red-free; SD-OCT: Spectral domain ocular coherence tomography; HRR: Hardy-Rand-Rittler pseudo-isochromatic plates; AS: anterior segment; UBM: ultrasound biomicroscopy; PCR: Polymerase chain reaction; SNP: Single nucleotide polymorphism; VEGF: Vascular endothelial growth factor; IZ: Interdigitation zone; EZ: Ellipsoid zone; ELM: External limiting membrane; LP: Light perception; AMD: Age-related macular degeneration; SFD: Sorsby fundus dystrophy."
10.	Glucagon Receptors (Glucagon Receptor)IBA 02/01/2012 - "Mice rendered hypoglycemic by a null mutation in the glucagon receptor gene Gcgr display late-onset retinal degeneration and loss of retinal sensitivity. "

Therapies and Procedures

1.	Phacoemulsification 01/01/2017 - "To review the outcomes in a series of patients with long anterior lens zonular fibers associated with late-onset retinal degeneration who had phacoemulsification cataract surgery. "
2.	Therapeutics 05/15/2011 - "The Ctrp5(+/-) mice, which have most of the pathological features of age-related macular degeneration, are unique and may serve as a valuable model both to understand the molecular pathology of late-onset retinal degeneration and to evaluate therapies."
3.	Intraocular Lenses (Intraocular Lens) 01/01/2017 - "In this small series of patients with late-onset retinal degeneration, cataract surgery was successfully performed without long-term complications involving intraocular lens stability. "
4.	Lasers (Laser) 10/01/2021 - ": L-ORD: Late-onset retinal degeneration; C1QTNF5: complement 1Q tumor necrosis factor 5; OCT: Ocular coherence tomography; BCVA: Best-corrected visual acuity; RPE: Retinal pigment epithelium; ffERG: Full-field electroretinography; IRD: Inherited retinal dystrophy; CNV: Choroidal neovascularization; LAZ: Long anteriorly inserted zonules; AMPK: AMP-activated protein kinase; IOP: Intraocular pressure; cSLO: confocal scanning laser ophthalmoscopy; BAF: Blue light autofluorescence; NIR-AF: Near-infrared autofluorescence; NIR-R: Near-infrared reflectance; RF: Red-free; SD-OCT: Spectral domain ocular coherence tomography; HRR: Hardy-Rand-Rittler pseudo-isochromatic plates; AS: anterior segment; UBM: ultrasound biomicroscopy; PCR: Polymerase chain reaction; SNP: Single nucleotide polymorphism; VEGF: Vascular endothelial growth factor; IZ: Interdigitation zone; EZ: Ellipsoid zone; ELM: External limiting membrane; LP: Light perception; AMD: Age-related macular degeneration; SFD: Sorsby fundus dystrophy."