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Late-onset retinal degeneration(LORD)

MedGen UID:
344198
•Concept ID:
C1854065
•
Disease or Syndrome
Synonyms: LORD; RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
SNOMED CT: Autosomal dominant late-onset retinal degeneration (719431007); Late-onset retinal degeneration (719431007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): C1QTNF5 (11q23.3)
 
Monarch Initiative: MONDO:0011579
OMIM®: 605670
Orphanet: ORPHA67042

Definition

Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003). [from OMIM]

Clinical features

From HPO
Retinal degeneration
MedGen UID:
48432
•Concept ID:
C0035304
•
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
See: Feature record | Search on this feature
Retinopathy
MedGen UID:
11209
•Concept ID:
C0035309
•
Disease or Syndrome
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
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Scotoma
MedGen UID:
19902
•Concept ID:
C0036454
•
Finding
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
See: Feature record | Search on this feature
Chorioretinal degeneration
MedGen UID:
99273
•Concept ID:
C0521683
•
Pathologic Function
See: Feature record | Search on this feature
Choroidal neovascularization
MedGen UID:
154726
•Concept ID:
C0600518
•
Pathologic Function
Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
See: Feature record | Search on this feature
Visual loss
MedGen UID:
784038
•Concept ID:
C3665386
•
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
See: Feature record | Search on this feature
Adult-onset night blindness
MedGen UID:
870346
•Concept ID:
C4024790
•
Disease or Syndrome
Inability to see well at night or in poor light with onset in adulthood.
See: Feature record | Search on this feature
Sub-RPE deposits
MedGen UID:
1615797
•Concept ID:
C4531064
•
Finding
Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.
Li RTH, Roman AJ, Sumaroka A, Stanton CM, Swider M, Garafalo AV, Heon E, Vincent A, Wright AF, Megaw R, Aleman TS, Browning AC, Dhillon B, Cideciyan AV
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):33. doi: 10.1167/iovs.64.15.33. PMID: 38133503Free PMC Article

Recent clinical studies

Etiology

Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging.
Duncan HJ, McNally TW, Ferrara M, Kotagiri A
BMJ Open Ophthalmol 2023 Oct;8(1) doi: 10.1136/bmjophth-2023-001370. PMID: 37884319Free PMC Article
MICROPERIMETRY IN FOVEAL-SPARING ATROPHIC LATE-ONSET RETINAL DEGENERATION.
Alex V, Papastavrou V, Walker EH, Browning AC, Dhillon B, Borooah S
Retina 2023 Sep 1;43(9):1590-1596. doi: 10.1097/IAE.0000000000003849. PMID: 37263185
Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5.
Lando L, Nguyen AX, Li RTH, Megaw R, Dhillon B, Borooah S
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2507-2516. Epub 2023 Apr 12 doi: 10.1007/s00417-023-06041-0. PMID: 37043002
Reticular Pseudodrusen in Late-Onset Retinal Degeneration.
Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC
Ophthalmol Retina 2021 Oct;5(10):1043-1051. Epub 2020 Dec 22 doi: 10.1016/j.oret.2020.12.012. PMID: 33352318Free PMC Article

Diagnosis

Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging.
Duncan HJ, McNally TW, Ferrara M, Kotagiri A
BMJ Open Ophthalmol 2023 Oct;8(1) doi: 10.1136/bmjophth-2023-001370. PMID: 37884319Free PMC Article
MICROPERIMETRY IN FOVEAL-SPARING ATROPHIC LATE-ONSET RETINAL DEGENERATION.
Alex V, Papastavrou V, Walker EH, Browning AC, Dhillon B, Borooah S
Retina 2023 Sep 1;43(9):1590-1596. doi: 10.1097/IAE.0000000000003849. PMID: 37263185
THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.
Papastavrou VT, O'Brien JM, Regan AJ, Aftab AM, Browning AC
Retin Cases Brief Rep 2022 Nov 1;16(6):714-720. doi: 10.1097/ICB.0000000000001067. PMID: 33055555
Reticular Pseudodrusen in Late-Onset Retinal Degeneration.
Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC
Ophthalmol Retina 2021 Oct;5(10):1043-1051. Epub 2020 Dec 22 doi: 10.1016/j.oret.2020.12.012. PMID: 33352318Free PMC Article

Therapy

Reticular Pseudodrusen in Late-Onset Retinal Degeneration.
Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC
Ophthalmol Retina 2021 Oct;5(10):1043-1051. Epub 2020 Dec 22 doi: 10.1016/j.oret.2020.12.012. PMID: 33352318Free PMC Article
Distinct Genetic Risk Profile of the Rapidly Progressing Diffuse-Trickling Subtype of Geographic Atrophy in Age-Related Macular Degeneration (AMD).
Fleckenstein M, Grassmann F, Lindner M, Pfau M, Czauderna J, Strunz T, von Strachwitz C, Schmitz-Valckenberg S, Holz FG, Weber BH
Invest Ophthalmol Vis Sci 2016 May 1;57(6):2463-71. doi: 10.1167/iovs.15-18593. PMID: 27149696
Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.
Jacobson SG, Cideciyan AV, Wright E, Wright AF
Invest Ophthalmol Vis Sci 2001 Jul;42(8):1882-90. PMID: 11431457

Prognosis

Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.
Papastavrou VT, O'Brien JM, Regan AJ, Aftab AM, Browning AC
Retin Cases Brief Rep 2022 Nov 1;16(6):714-720. doi: 10.1097/ICB.0000000000001067. PMID: 33055555
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
De Zaeytijd J, Coppieters F, De Bruyne M, Van Royen J, Roels D, Six R, Van Cauwenbergh C, De Baere E, Leroy BP
Ophthalmic Genet 2021 Oct;42(5):521-532. Epub 2021 May 5 doi: 10.1080/13816810.2021.1923041. PMID: 33949280
Reticular Pseudodrusen in Late-Onset Retinal Degeneration.
Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC
Ophthalmol Retina 2021 Oct;5(10):1043-1051. Epub 2020 Dec 22 doi: 10.1016/j.oret.2020.12.012. PMID: 33352318Free PMC Article
CHARACTERIZING THE NATURAL HISTORY OF FOVEAL-SPARING ATROPHIC LATE-ONSET RETINAL DEGENERATION.
Borooah S, Papastavrou VT, Lando L, Moghimi S, Lin T, Dans K, Motevasseli T, Cameron JR, Freeman WR, Dhillon B, Browning AC
Retina 2021 Jun 1;41(6):1329-1337. doi: 10.1097/IAE.0000000000003017. PMID: 33149097

Clinical prediction guides

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
Adv Exp Med Biol 2023;1415:335-340. doi: 10.1007/978-3-031-27681-1_48. PMID: 37440053
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
Am J Pathol 2023 Nov;193(11):1706-1720. Epub 2022 Oct 31 doi: 10.1016/j.ajpath.2022.10.004. PMID: 36328299Free PMC Article
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
Retina 2021 Nov 1;41(11):2236-2245. doi: 10.1097/IAE.0000000000003205. PMID: 33990119Free PMC Article
LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.
Cukras C, Flamendorf J, Wong WT, Ayyagari R, Cunningham D, Sieving PA
Retina 2016 Dec;36(12):2348-2356. doi: 10.1097/IAE.0000000000001113. PMID: 27388725Free PMC Article
Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR
Acta Ophthalmol 2013 May;91(3):e191-5. Epub 2013 Jan 7 doi: 10.1111/aos.12010. PMID: 23289492

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