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LORD
MCID: LTN004
MIFTS: 52

Late-Onset Retinal Degeneration (LORD)

Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Late-Onset Retinal Degeneration

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MalaCards integrated aliases for Late-Onset Retinal Degeneration:

Name: Late-Onset Retinal Degeneration 56 12 52 58 73 36 29 6 15 71
Lord 56 12 52 58 73
Retinal Degeneration, Late-Onset, Autosomal Dominant 56 52 13
Autosomal Dominant Late-Onset Retinal Degeneration 12 52 58
Retinal Degeneration, Late-Onset 39
Pigmentary Retinopathy 52
Retinitis Pigmentosa 71

Characteristics:

Orphanet epidemiological data:

58
late-onset retinal degeneration
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
late-onset retinal degeneration:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060869
OMIM 56 605670
KEGG 36 H01130
UMLS via Orphanet 72 C1854065
Orphanet 58 ORPHA67042
MedGen 41 C1854065
UMLS 71 C0035334 C1854065
Sources

Summaries for Late-Onset Retinal Degeneration

About this section
NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67042 Definition Late-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 pigmentosa 50 and retinitis pigmentosa 17. An important gene associated with Late-Onset Retinal Degeneration is C1QTNF5 (C1q And TNF Related 5), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and threonine degradation. The drugs Sodium citrate and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and retina, and related phenotypes are retinal degeneration and rod-cone dystrophy

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 : 56 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)

KEGG : 36 Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the retinal pigment epithelium (RPE) and Bruch's membrane, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. L-ORD is caused by a mutation in the CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg). The mutation results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions.

UniProtKB/Swiss-Prot : 73 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.

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Related Diseases for Late-Onset Retinal Degeneration

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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 top 50) (show all 294)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 50 32.1 RPGR EYS
2 retinitis pigmentosa 17 32.1 RPGR PRCD
3 retinitis pigmentosa 25 31.8 RPGR EYS ELOVL4
4 yemenite deaf-blind hypopigmentation syndrome 30.6 RPGR CRB1
5 retinal degeneration 30.4 RPGR PRCD MFRP ELOVL4 CRB1 C1QTNF5
6 inherited retinal disorder 30.3 RPGR MFRP EYS CRB1
7 macular degeneration, age-related, 1 30.0 TYR RPGR PRDM10 ELOVL4 CRB1
8 achromatopsia 30.0 RPGR PRCD CRB1
9 retinal disease 29.7 RPGR EYS ELOVL4 CRB1
10 stargardt disease 29.6 RPGR EYS ELOVL4 CRB1
11 fundus dystrophy 29.2 RPGR PRDM10 PRCD MFRP EYS ELOVL4
12 leber congenital amaurosis 28.8 RPGR PRDM10 PRCD EYS ELOVL4 CRB1
13 retinitis pigmentosa 28.3 TYR RPGR PRODH PRDM10 PRCD MFRP
14 hardikar syndrome 12.2
15 kearns-sayre syndrome 11.8
16 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.7
17 retinopathy, pericentral pigmentary, dominant 11.7
18 retinopathy, pericentral pigmentary, autosomal recessive 11.7
19 cockayne syndrome a 11.7
20 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 11.5
21 myopathy, mitochondrial, and ataxia 11.5
22 cockayne syndrome 11.5
23 mitochondrial trifunctional protein deficiency 11.4
24 bardet-biedl syndrome 12 11.4
25 spinocerebellar ataxia 7 11.4
26 retinopathy, pigmentary, and mental retardation 11.4
27 bardet-biedl syndrome 1 11.3
28 neurodegeneration with brain iron accumulation 1 11.3
29 cockayne syndrome b 11.2
30 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
31 retinitis pigmentosa 1 11.2
32 retinitis pigmentosa 9 11.2
33 retinitis pigmentosa 10 11.2
34 cystinosis, late-onset juvenile or adolescent nephropathic type 11.2
35 ramon syndrome 11.2
36 xeroderma pigmentosum, complementation group d 11.2
37 xeroderma pigmentosum, complementation group f 11.2
38 xeroderma pigmentosum, complementation group g 11.2
39 retinitis pigmentosa 3 11.2
40 retinitis pigmentosa 23 11.2
41 retinitis pigmentosa 2 11.2
42 diabetes and deafness, maternally inherited 11.2
43 retinitis pigmentosa 13 11.2
44 retinitis pigmentosa 12 11.2
45 retinitis pigmentosa 14 11.2
46 retinitis pigmentosa 11 11.2
47 bardet-biedl syndrome 3 11.2
48 retinitis pigmentosa 18 11.2
49 retinitis pigmentosa 19 11.2
50 usher syndrome, type if 11.2

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



Diseases related to Late-Onset Retinal Degeneration
Sources

Symptoms & Phenotypes for Late-Onset Retinal Degeneration

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Human phenotypes related to Late-Onset Retinal Degeneration:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 retinal degeneration 31 HP:0000546
2 rod-cone dystrophy 31 HP:0000510
3 blindness 31 HP:0000618
4 retinopathy 31 HP:0000488
5 visual loss 31 HP:0000572
6 scotoma 31 HP:0000575
7 adult-onset night blindness 31 HP:0007830
8 sub-rpe deposits 31 HP:0031531

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Late-Onset Retinal Degeneration:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.17 C1QTNF5 CRB1 ELOVL4 MFRP PRODH RPGR
Sources

Drugs & Therapeutics for Late-Onset Retinal Degeneration

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

(show top 50) (show all 156)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Ranibizumab Approved Phase 4 347396-82-1 459903
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
4 Sildenafil Citrate Phase 4 171599-83-0
5 Citrate Phase 4
6 Angiogenesis Inhibitors Phase 4
7 Immunoglobulins Phase 4
8 Antibodies Phase 4
9 Autoantibodies Phase 4
10 Vardenafil Dihydrochloride Phase 4
11 Vasodilator Agents Phase 4
12 Phosphodiesterase Inhibitors Phase 4
13 Phosphodiesterase 5 Inhibitors Phase 4
14 Hormone Antagonists Phase 4
15 Hormones Phase 4
16 Melanocyte-Stimulating Hormones Phase 4
17 beta-endorphin Phase 4
18 Adrenocorticotropic Hormone Phase 4
19
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
21
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
22
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 6433159
23
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
24 Tocotrienol Investigational Phase 3 6829-55-6
25 retinol Phase 3
26 Retinol palmitate Phase 3
27 Tocopherols Phase 3
28 Tocotrienols Phase 3
29 Calciferol Phase 3
30 Antihypertensive Agents Phase 3
31 Isopropyl unoprostone Phase 3
32
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
33
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
34
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
35
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
36
Iodine Approved, Investigational Phase 2 7553-56-2 807
37
Povidone Approved Phase 2 9003-39-8
38
Povidone-iodine Approved Phase 2 25655-41-8
39
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
40
Brinzolamide Approved Phase 2 138890-62-7 68844
41
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
42
Levodopa Approved Phase 2 59-92-7 6047
43
Carbidopa Approved Phase 2 28860-95-9 34359
44
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
45
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
46
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
47
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 7235-40-7
48 Antiemetics Phase 2
49 HIV Protease Inhibitors Phase 2
50
protease inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 193)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
2 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
3 Correlation of Functional and Structural Outcomes With Serum Antibody Profiles in Patients With Neovascular Age-related Macular Degeneration Treated With Ranibizumab and Healthy Subjects: A Prospective, Controlled Monocenter Trial Completed NCT02843490 Phase 4 Ranibizumab
4 An Integrated Approach With Vardenafil Orodispersible and Cognitive-behavioral Sex Therapy for the Treatment of Erectile Dysfunction (STEDOV) Completed NCT02450188 Phase 4 Vardenafil
5 Modeling and Treating the Pathophysiology of Demyelination in Multiple Sclerosis Terminated NCT00854750 Phase 4 ACTHAR;ACTHAR;ACTHAR;ACTHAR
6 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
7 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
8 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
9 A Dose Escalation (Phase 1), and Dose Expansion (Phase 2/3) Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using an Adeno-Associated Viral Vector (AAV8) Encoding Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03116113 Phase 2, Phase 3
10 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT01680510 Phase 2, Phase 3
11 Management of Low Risk Ductal Carcinoma in Situ (Low-risk DCIS): a Randomized, Multicentre, Non-inferiority Trial, Between Standard Therapy Approach Versus Active Surveillance Recruiting NCT02492607 Phase 3
12 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
13 Phase III Clinical Study of UF-021 for Retinitis Pigmentosa - Evaluation for a Comparative Double Masked Placebo Controlled Study Period and a Continuous Administration Period Terminated NCT01786395 Phase 3 UF-021;Placebo
14 Argus® II Retinal Stimulation System Feasibility Protocol Unknown status NCT00407602 Phase 2
15 An Open Labeled Clinical Study to Evaluate the Safety and Efficacy OF Autologous Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Retinitis Pigmentosa. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01914913 Phase 1, Phase 2
16 Prospective Non-randomised Exploratory Study to Assess the Safety and Efficacy of Aflibercept (Eylea) in Cystoid Macular Oedema (CMO) Associated With Retinitis Pigmentosa (RP) Unknown status NCT02661711 Phase 2 Aflibercept
17 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
18 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
19 Nerve Growth Factor Eye Drops as a Novel Treatment for Vision Loss in Patients With Retinitis Pigmentosa: From Preclinical to Clinical Phase II Trial Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
20 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
21 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2 400 µg Brimonidine Tartrate Implant;200 µg Brimonidine Tartrate Implant;100 µg Brimonidine Tartrate Implant
22 A Phase II Multiple Site, Randomized, Placebo-Controlled Trial of Oral Valproic Acid for Autosomal Dominant Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
23 A Prospective, Multicenter, Open-Label, Single-Arm Study of the Safety and Tolerability of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT02320812 Phase 1, Phase 2
24 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Acuity as the Primary Outcome Completed NCT00447993 Phase 2 NT-501;NT-501
25 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Field Sensitivity as the Primary Outcome Completed NCT00447980 Phase 2 NT-501;NT-501
26 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
27 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
28 Investigation of Effectiveness and Safety of High Dose Docosahexaenoic Acid (DHA) in X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
29 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
30 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
31 An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
32 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Completed NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
33 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
34 Phase I/IIa, Open-Label, Dose-Escalation Study of Safety and Tolerability of Intravitreal RST-001 in Patients With Advanced Retinitis Pigmentosa (RP) Recruiting NCT02556736 Phase 1, Phase 2 RST-001
35 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2-.RPGR) for Gene Therapy of Adults and Children With X-linked Retinitis Pigmentosa Owing to Defects in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
36 First-in-human Phase I/IIa, Open-Label, Prospective Study of the Safety and Tolerability of Subretinally Transplanted Human Retinal Progenitor Cells (hRPC) in Patients With Retinitis Pigmentosa (RP) Recruiting NCT02464436 Phase 1, Phase 2 hRPC
37 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
38 A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
39 An Open-label First-in-human Single Ascending Dose Study to Explore Safety, Tolerability and Efficacy of Subretinal Administration of CPK850 Gene Therapy in Patients With Retinitis Pigmentosa Due to Mutations in the Retinaldehyde Binding Protein 1 (RLBP1) Gene Recruiting NCT03374657 Phase 1, Phase 2
40 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
41 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
42 STREAM: A Phase 1/2, Open-label, Safety, Tolerability and Preliminary Efficacy Study of Implantation Into One Eye of hESC-derived RPE in Patients With Retinitis Pigmentosa Due to Monogenic Mutation Recruiting NCT03963154 Phase 1, Phase 2
43 An Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations Recruiting NCT03316560 Phase 1, Phase 2
44 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
45 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
46 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Active, not recruiting NCT01530659 Phase 2 NT-501
47 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
48 A Prospective, Multicenter, Randomized, Study of the Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Active, not recruiting NCT03073733 Phase 2
49 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
50 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein) Not yet recruiting NCT04120883 Phase 1, Phase 2 Hydroxychloroquine lower dose;Hydroxychloroquine higher dose

Search NIH Clinical Center for Late-Onset Retinal Degeneration

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Genetic Tests for Late-Onset Retinal Degeneration

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Genetic tests related to Late-Onset Retinal Degeneration:

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

Anatomical Context for Late-Onset Retinal Degeneration

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

40
Eye, Bone, Retina, Testes, Brain, Bone Marrow, Heart
Sources

Publications for Late-Onset Retinal Degeneration

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Articles related to Late-Onset Retinal Degeneration:

(show top 50) (show all 1327)
# Title Authors PMID Year
1
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. 61 56 6
12944416 2003
2
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. 61 56
11097607 2000
3
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. 61 56
8759344 1996
4
Lord Nelson's (1758-1805) left eye. 61
28972425 2020
5
Sir Winston Churchill's doctors on the Riviera 1949-1965: Herbert Robert Burnett Gibson (1885-1967) and Dafydd (David) Myrddin Roberts (1906-1977). 61
29072523 2020
6
Regulatory justice following gross negligence manslaughter verdicts: Nurse/doctor differences. 61
30977427 2020
7
Successive marine heatwaves cause disproportionate coral bleaching during a fast phase transition from El Niño to La Niña. 61
32014776 2020
8
Managing mental incapacity in the 20th century: A history of the Court of Protection of England & Wales. 61
32033695 2020
9
Linguistic Maze Production by Children and Adolescents With Attention-Deficit/Hyperactivity Disorder. 61
31944883 2020
10
The adult outcome of children referred for autism: typology and prediction from childhood. 61
31957035 2020
11
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. 61
31647904 2019
12
Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. 61
31286363 2019
13
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1. 61
31385385 2019
14
Speciation in Howea Palms Occurred in Sympatry, Was Preceded by Ancestral Admixture, and Was Associated with Edaphic and Phenological Adaptation. 61
31318434 2019
15
Molecular chirality in classical spacetime: solving the controversy about the spinning cone model of rotating molecules. 61
31867762 2019
16
Making the switch from practice to policy. 61
31806852 2019
17
Diary of a parliamentary intern. 61
31757925 2019
18
New fellows join the Academy of Medical Sciences. 61
31732645 2019
19
The Lord of the Lungs: The essential role of pulmonary surfactant upon inhalation of nanoparticles. 61
31560956 2019
20
Estimating the magnitude of clinical benefit of local therapy in patients with DCIS. 61
31839157 2019
21
CD82 controls CpG-dependent TLR9 signaling. 61
31408613 2019
22
Safeguarding Culture in the Catholic Church of England and Wales in the Twenty-First Century: An Examination of Progress. 61
30856086 2019
23
The Adapted ADOS: A New Module Set for the Assessment of Minimally Verbal Adolescents and Adults. 61
31736004 2019
24
In Close Combat: Vice-Admiral Lord Horatio Nelson's Injuries in the Napoleonic Wars. 61
31775975 2019
25
Genome-Wide Association Studies (GWAS) for Yield and Weevil Resistance in Sweet potato (Ipomoea batatas (L.) Lam). 61
31342081 2019
26
Commentary: Shall we stop looking for the lord of the ring? 61
30772038 2019
27
Response to the Comments of J.S. Lord. 61
31431328 2019
28
Phylogenetic divergence of island biotas: Molecular dates, extinction, and "relict" lineages. 61
31544990 2019
29
Lord Mountbatten's last supper to public health's last rites - The trajectory of medicine. 61
31742194 2019
30
Measuring Fatigue in TBI: Development of the TBI-QOL Fatigue Item Bank and Short Form. 61
31498228 2019
31
Ecological speciation in sympatric palms: 3. Genetic map reveals genomic islands underlying species divergence in Howea. 61
31298414 2019
32
Interview with Verity Firth: commercial interests and public health policy. 61
31569201 2019
33
Ecological speciation in sympatric palms: 4. Demographic analyses support speciation of Howea in the face of high gene flow. 61
31348522 2019
34
Delivering allied health services to regional and remote participants on the autism spectrum via video-conferencing technology: lessons learned. 61
31474113 2019
35
Beyond the Disease: "...Am I My Brother's Keeper?" 61
31488731 2019
36
Learning from history: Lord Brain and Hashimoto's encephalopathy. 61
31243139 2019
37
Lord Mountbatten's The Last Supper: How the British empire botched up the future of India, Pakistan and Bangladesh. 61
31548929 2019
38
The Spatial Resolution of Bat Biosonar Quantified with a Visual-Resolution Paradigm. 61
31104937 2019
39
A case of an unusual presentation of obsessive compulsive disorder in an adolescent. 61
31078093 2019
40
Multimodal imaging of late-onset retinal degeneration complicated by bilateral choroidal neovascularization. 61
30692649 2019
41
Mercury concentrations in marine species from the Aleutian Islands: Spatial and biological determinants. 61
30763856 2019
42
Detection of ultrafine plastics ingested by seabirds using tissue digestion. 61
31232326 2019
43
Ancestral range reconstruction of remote oceanic island species of Plantago (Plantaginaceae) reveals differing scales and modes of dispersal. 61
31217659 2019
44
Cellular Uptake Mediated by Cyclic Oligochalcogenides. 61
30975261 2019
45
The future and the vet profession. 61
30948669 2019
46
Measuring child social communication across contexts: Similarities and differences across play and snack routines. 61
30663859 2019
47
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients. 61
30895942 2019
48
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy. 61
30846767 2019
49
Splinters: Cross-Dressing Ex-Servicemen on the Interwar Stage. 61
30380103 2019
50
Low-frequency dielectric response of a periodic array of charged spheres in an electrolyte solution: The simple cubic lattice. 61
30999468 2019
Sources

Variations for Late-Onset Retinal Degeneration

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ClinVar genetic disease variations for Late-Onset Retinal Degeneration:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C1QTNF5 NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)SNV Likely pathogenic 2126 rs111033578 11:119210284-119210284 11:119339574-119339574
2 C1QTNF5 , MFRP NM_031433.4(MFRP):c.642-2A>GSNV Conflicting interpretations of pathogenicity 497208 rs376898612 11:119215716-119215716 11:119345006-119345006
3 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1124+1G>TSNV Uncertain significance 631652 rs145719998 11:119214525-119214525 11:119343815-119343815

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

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

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Expression for Late-Onset Retinal Degeneration

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

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

# Super pathways Score Top Affiliating Genes
1
Glycine, serine and threonine metabolism 36
Show member pathways
 10.52 SDS DLD DAO
2
threonine degradation 1
Show member pathways
 9.96 SDS DLD
Sources

GO Terms for Late-Onset Retinal Degeneration

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

# Name GO ID Score Top Affiliating Genes
1 eye photoreceptor cell development GO:0042462 9.16 MFRP CRB1
2 visual perception GO:0007601 9.02 TYR RPGR PRCD MFRP EYS
3 proline catabolic process GO:0006562 8.96 PRODH DAO
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Sources for Late-Onset Retinal Degeneration

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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