MCID: LTN004
MIFTS: 40

Late-Onset Retinal Degeneration

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Late-Onset Retinal Degeneration

MalaCards integrated aliases for Late-Onset Retinal Degeneration:

Name: Late-Onset Retinal Degeneration 57 12 53 59 75 37 29 6 73
Lord 57 12 53 59 75
Retinal Degeneration, Late-Onset, Autosomal Dominant 57 53 13
Autosomal Dominant Late-Onset Retinal Degeneration 12 53 59
Pigmentary Retinopathy 53 6
Retinal Degeneration, Late-Onset 40
Late-Onset Retinal Degenration 15
Retinitis Pigmentosa 73

Characteristics:

Orphanet epidemiological data:

59
late-onset retinal degeneration
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
late-onset retinal degeneration:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 605670
Disease Ontology 12 DOID:0060869
Orphanet 59 ORPHA67042
UMLS via Orphanet 74 C1854065
MedGen 42 C1854065
KEGG 37 H01130
UMLS 73 C1854065

Summaries for Late-Onset Retinal Degeneration

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67042Disease definitionLate-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.Visit the Orphanet disease page for more resources.

MalaCards based summary : Late-Onset Retinal Degeneration, also known as lord, is related to retinitis and retinal degeneration. An important gene associated with Late-Onset Retinal Degeneration is C1QTNF5 (C1q And TNF Related 5), and among its related pathways/superpathways are Pyruvate metabolism and Propanoate metabolism. The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are rod-cone dystrophy and retinal degeneration

Disease Ontology : 12 A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material basis in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.

OMIM : 57 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). (605670)

UniProtKB/Swiss-Prot : 75 Late-onset retinal degeneration: 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.

Related Diseases for Late-Onset Retinal Degeneration

Diseases in the Retinal Degeneration family:

Late-Onset Retinal Degeneration

Diseases related to Late-Onset Retinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 retinitis 10.5
2 retinal degeneration 10.5
3 nanophthalmos 2 10.5 C1QTNF5 MFRP
4 microphthalmia, isolated 5 10.4 C1QTNF5 MFRP
5 microphthalmia, isolated 6 10.3 C1QTNF5 MFRP
6 aging 10.1
7 macular degeneration, age-related, 1 10.1
8 diabetes mellitus, noninsulin-dependent 9.9
9 lipodystrophy, familial partial, type 2 9.9
10 retinitis pigmentosa 9.9
11 leber congenital amaurosis 4 9.9
12 cataract 9.9
13 choroiditis 9.9
14 fundus dystrophy 9.8 C1QTNF5 MFRP USH2A

Graphical network of the top 20 diseases related to Late-Onset Retinal Degeneration:



Diseases related to Late-Onset Retinal Degeneration

Symptoms & Phenotypes for Late-Onset Retinal Degeneration

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
night blindness beginning in the 6th decade
vision loss, severe, by the 8th decade
punctate yellow-white sub-retinal pigment epithelium (rpe) lesions
retinopathy may resemble retinitis pigmentosa
abnormal dark-adaptation, midperipheral scotoma
more

Clinical features from OMIM:

605670

Human phenotypes related to Late-Onset Retinal Degeneration:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 retinal degeneration 32 HP:0000546
3 visual loss 32 HP:0000572
4 scotoma 32 HP:0000575
5 adult-onset night blindness 32 HP:0007830

Drugs & Therapeutics for Late-Onset Retinal Degeneration

Drugs for Late-Onset Retinal Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
2
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
3 Autonomic Agents Phase 1, Phase 2
4 Mitogens Phase 1, Phase 2
5 Nasal Decongestants Phase 1, Phase 2
6 Ophthalmic Solutions Phase 1, Phase 2
7 Peripheral Nervous System Agents Phase 1, Phase 2
8 Pharmaceutical Solutions Phase 1, Phase 2
9 Respiratory System Agents Phase 1, Phase 2
10 Tetrahydrozoline Phase 1, Phase 2
11 Vasoconstrictor Agents Phase 1, Phase 2
12 Anesthetics Phase 2
13 Antioxidants Phase 2
14 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
2 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
3 Self-confidence Study in Patients With Argus II Artificial Retina Recruiting NCT03510234
4 Cell Collection to Study Eye Diseases Recruiting NCT01432847

Search NIH Clinical Center for Late-Onset Retinal Degeneration

Genetic Tests for Late-Onset Retinal Degeneration

Genetic tests related to Late-Onset Retinal Degeneration:

# Genetic test Affiliating Genes
1 Late-Onset Retinal Degeneration 29 C1QTNF5

Anatomical Context for Late-Onset Retinal Degeneration

MalaCards organs/tissues related to Late-Onset Retinal Degeneration:

41
Eye, Retina

Publications for Late-Onset Retinal Degeneration

Articles related to Late-Onset Retinal Degeneration:

(show all 18)
# Title Authors Year
1
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. ( 28939808 )
2017
2
Cataract surgery in patients with late-onset retinal degeneration. ( 28917403 )
2017
3
LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. ( 27388725 )
2016
4
Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model. ( 25814825 )
2015
5
Late-Onset Retinal Degeneration Caused by C1QTNF5 Mutation: Sub-Retinal Pigment Epithelium Deposits and Visual Consequences. ( 25010528 )
2014
6
Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). ( 23289492 )
2013
7
The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. ( 22277927 )
2012
8
A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. ( 21349921 )
2011
9
Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration. ( 20554618 )
2010
10
Treatment of a choroidal neovascular membrane in a patient with late-onset retinal degeneration (L-ORD) with intravitreal ranibizumab. ( 20489737 )
2010
11
Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. ( 17249553 )
2006
12
Long anterior lens zonules in late-onset retinal degeneration (L-ORD). ( 16376663 )
2005
13
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. ( 12944416 )
2003
14
The diagnosis of autosomal dominant late-onset retinal degeneration in two sisters. ( 12802359 )
2003
15
Activated microglia in human retinitis pigmentosa, late-onset retinal degeneration, and age-related macular degeneration. ( 12634111 )
2003
16
Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. ( 11431457 )
2001
17
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. ( 11097607 )
2000
18
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. ( 8759344 )
1996

Variations for Late-Onset Retinal Degeneration

UniProtKB/Swiss-Prot genetic disease variations for Late-Onset Retinal Degeneration:

75
# Symbol AA change Variation ID SNP ID
1 C1QTNF5 p.Ser163Arg VAR_032629 rs111033578

ClinVar genetic disease variations for Late-Onset Retinal Degeneration:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1QTNF5 NM_015645.4(C1QTNF5): c.489C> G (p.Ser163Arg) single nucleotide variant Likely pathogenic rs111033578 GRCh37 Chromosome 11, 119210284: 119210284
2 C1QTNF5 NM_015645.4(C1QTNF5): c.489C> G (p.Ser163Arg) single nucleotide variant Likely pathogenic rs111033578 GRCh38 Chromosome 11, 119339574: 119339574
3 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh37 Chromosome 1, 216498841: 216498841
4 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh38 Chromosome 1, 216325499: 216325499
5 PRPH2 NM_000322.4(PRPH2): c.469G> A (p.Asp157Asn) single nucleotide variant Likely pathogenic rs61755787 GRCh37 Chromosome 6, 42689604: 42689604
6 PRPH2 NM_000322.4(PRPH2): c.469G> A (p.Asp157Asn) single nucleotide variant Likely pathogenic rs61755787 GRCh38 Chromosome 6, 42721866: 42721866
7 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 64431408: 64431408
8 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 63721512: 63721512
9 TOPORS NM_005802.4(TOPORS): c.2666A> G (p.His889Arg) single nucleotide variant Uncertain significance rs762457246 GRCh37 Chromosome 9, 32541857: 32541857
10 TOPORS NM_005802.4(TOPORS): c.2666A> G (p.His889Arg) single nucleotide variant Uncertain significance rs762457246 GRCh38 Chromosome 9, 32541859: 32541859
11 TOPORS NM_005802.4(TOPORS): c.1379G> C (p.Gly460Ala) single nucleotide variant Uncertain significance rs146483990 GRCh37 Chromosome 9, 32543144: 32543144
12 TOPORS NM_005802.4(TOPORS): c.1379G> C (p.Gly460Ala) single nucleotide variant Uncertain significance rs146483990 GRCh38 Chromosome 9, 32543146: 32543146

Expression for Late-Onset Retinal Degeneration

Search GEO for disease gene expression data for Late-Onset Retinal Degeneration.

Pathways for Late-Onset Retinal Degeneration

Pathways related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.58 DLD LDHB
2 10.13 DLD LDHB

GO Terms for Late-Onset Retinal Degeneration

Biological processes related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyruvate metabolic process GO:0006090 8.62 DLD LDHB

Molecular functions related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NAD binding GO:0051287 8.62 DLD LDHB

Sources for Late-Onset Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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