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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.
 
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.
Retinal disorder
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.
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.
Chorioretinal degeneration
MedGen UID:
99273
Concept ID:
C0521683
Pathologic Function
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.
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).
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.
Sub-RPE deposits
MedGen UID:
1615797
Concept ID:
C4531064
Finding
Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.

Professional guidelines

PubMed

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

Therapy

Ganesh D, Corradetti G, Sadda SR
Retin Cases Brief Rep 2024 Sep 1;18(5):633-636. doi: 10.1097/ICB.0000000000001439. PMID: 37224477
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
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
Jacobson SG, Cideciyan AV, Wright E, Wright AF
Invest Ophthalmol Vis Sci 2001 Jul;42(8):1882-90. PMID: 11431457

Prognosis

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
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
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
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
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

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
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
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
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
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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