LORD
MCID: LTN004
MIFTS: 62

Late-Onset Retinal Degeneration (LORD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Late-Onset Retinal Degeneration

MalaCards integrated aliases for Late-Onset Retinal Degeneration:

Name: Late-Onset Retinal Degeneration 57 11 19 58 73 28 5 43 14 71
Lord 57 11 19 58 73
Retinal Degeneration, Late-Onset, Autosomal Dominant 57 19 12
Autosomal Dominant Late-Onset Retinal Degeneration 11 19 58
Pigmentary Retinopathy 19 75 5
Retinal Degeneration, Late-Onset 38
Retinitis Pigmentosa 71

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Adult,Elderly 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0060869
OMIM® 57 605670
MeSH 43 C565309
ICD10 via Orphanet 32 H35.5
UMLS via Orphanet 72 C1854065
Orphanet 58 ORPHA67042
MedGen 40 C1854065
UMLS 71 C0035334 C1854065

Summaries for Late-Onset Retinal Degeneration

GARD: 19 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.

MalaCards based summary: Late-Onset Retinal Degeneration, also known as lord, is related to leber congenital amaurosis 4 and peripheral 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 Visual Cycle in Retinal Rods and Diseases of the neuronal system. The drugs Tocopherol and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and retina, and related phenotypes are abnormal best corrected visual acuity test and nyctalopia

Orphanet: 58 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.

Disease Ontology: 11 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Wikipedia: 75 Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include... more...

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 top 50) (show all 308)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 4 32.2 TULP1 RPE65 PRPH2 CRB1
2 peripheral retinal degeneration 31.7 RPGR RPE65 RLBP1 RHO
3 retinal degeneration 31.3 USH2A TULP1 RPGR RPE65 RLBP1 RHO
4 macular degeneration, age-related, 1 31.1 USH2A RPGR RPE65 RLBP1 RHO PRPH2
5 macular retinal edema 30.9 USH2A RPE65 RHO NR2E3 CRB1
6 night blindness 30.8 USH2A TULP1 RPGR RPE65 RLBP1 RHO
7 retinitis 30.6 USH2A TULP1 RPGR RPE65 RLBP1 RHO
8 choroideremia 30.6 USH2A RPGR RPE65 RHO PRPH2
9 retinal disease 30.6 USH2A RPGR RPE65 RLBP1 RHO PRPH2
10 scotoma 30.5 USH2A RPGR RPE65 RHO PRPH2
11 fundus dystrophy 30.5 WHRN USH2A-AS1 USH2A TULP1 RPGR RPE65
12 macular dystrophy, dominant cystoid 30.5 USH2A RPGR RPE65 RHO NR2E3 CRB1
13 progressive cone dystrophy 30.5 RPGR PRPH2
14 choroidal dystrophy, central areolar, 1 30.5 USH2A RPGR RPE65 RLBP1 PRPH2 NR2E3
15 stargardt disease 1 30.5 TULP1 PRPH2 CRB1
16 chorioretinal scar 30.4 RHO CRB1
17 refractive error 30.4 RPGR RPE65 RHO CRB1
18 fundus albipunctatus 30.4 USH2A TULP1 RPGR RPE65 RLBP1 RHO
19 exudative vitreoretinopathy 30.4 USH2A RPGR PRPH2 NR2E3 CRB1
20 cone dystrophy 30.3 USH2A TULP1 RPGR RPE65 RLBP1 RHO
21 senior-loken syndrome 1 30.3 USH2A TULP1 RPGR RPE65 RHO PRPH2
22 retinitis pigmentosa 30.2 WHRN USH2A-AS1 USH2A TULP1 SIGMAR1 SCAPER
23 bardet-biedl syndrome 30.2 USH2A TULP1 SCAPER RPGR RPE65 RHO
24 nanophthalmos 30.2 TULP1 RPGR RPE65 RHO PRPH2 NR2E3
25 achromatopsia 30.1 USH2A TULP1 RPGR RPE65 RHO PRPH2
26 stargardt disease 30.1 USH2A TULP1 RPGR RPE65 RLBP1 RHO
27 usher syndrome type 2 30.1 WHRN USH2A-AS1 USH2A RPGR RPE65 RHO
28 usher syndrome 29.9 WHRN USH2A-AS1 USH2A TULP1 RPGR RPE65
29 leber plus disease 29.9 WHRN USH2A TULP1 RPGR RPE65 RLBP1
30 hardikar syndrome 11.7
31 myopathy, mitochondrial, and ataxia 11.6
32 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.5
33 kearns-sayre syndrome 11.3
34 mitochondrial trifunctional protein deficiency 11.3
35 neurodegeneration with brain iron accumulation 1 11.2
36 bardet-biedl syndrome 1 11.2
37 cockayne syndrome a 11.2
38 ramon syndrome 11.2
39 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 11.2
40 oculopharyngodistal myopathy 3 11.2
41 neurodevelopmental disorder with seizures and brain abnormalities 11.2
42 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.2
43 retinopathy, pericentral pigmentary, autosomal recessive 11.2
44 retinopathy, pericentral pigmentary, dominant 11.2
45 spinocerebellar ataxia 7 11.2
46 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 11.1
47 bardet-biedl syndrome 2 11.1
48 bardet-biedl syndrome 10 11.1
49 bardet-biedl syndrome 11 11.1
50 bardet-biedl syndrome 12 11.1

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

Human phenotypes related to Late-Onset Retinal Degeneration:

58 30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal best corrected visual acuity test 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030534
2 nyctalopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000662
3 visual loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0000572
4 severely reduced visual acuity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001141
5 choroidal neovascularization 58 30 Frequent (33%) Frequent (79-30%)
HP:0011506
6 chorioretinal atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000533
7 drusen 58 30 Frequent (33%) Frequent (79-30%)
HP:0011510
8 patchy atrophy of the retinal pigment epithelium 58 30 Frequent (33%) Frequent (79-30%)
HP:0007791
9 multifocal subretinal deposits 58 30 Frequent (33%) Frequent (79-30%)
HP:0031530
10 photophobia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000613
11 fundus atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001099
12 macular atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007401
13 iris transillumination defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012805
14 iris atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001089
15 tritanomaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000552
16 red-green dyschromatopsia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000642
17 peripapillary atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0500087
18 abnormal suspensory ligament of lens morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012628
19 ocular hypertension 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007906
20 epiretinal membrane 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100014
21 blindness 30 HP:0000618
22 retinopathy 30 HP:0000488
23 rod-cone dystrophy 30 HP:0000510
24 scotoma 30 HP:0000575
25 macular degeneration 58 Frequent (79-30%)
26 retinal degeneration 30 HP:0000546
27 abnormal anterior eye segment morphology 58 Occasional (29-5%)
28 adult-onset night blindness 30 HP:0007830
29 sub-rpe deposits 30 HP:0031531

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Late-Onset Retinal Degeneration:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ADGRV1 C1QTNF2 C1QTNF5 CRB1 FAM151A MFRP
2 pigmentation MP:0001186 10 C1QTNF5 CRB1 FAM151A MFRP PRCD PRPH2
3 cardiovascular system MP:0005385 9.65 C1QTNF2 C1QTNF5 CRB1 FAM151A PLA2G5 PRPH2
4 vision/eye MP:0005391 9.5 ADGRV1 C1QTNF5 CRB1 FAM151A MFRP NR2E3

Drugs & Therapeutics for Late-Onset Retinal Degeneration

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

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2
2
Acetylcysteine Approved, Investigational Phase 3 616-91-1 581 12035
3
Beta carotene Approved, Nutraceutical Phase 2, Phase 3 6811-73-0, 7235-40-7 10256668 5280489
4
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 5281243
5
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 3 59-02-9, 10191-41-0 2116 14985
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
7
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
8
Tocotrienol Investigational Phase 3 6829-55-6 9929901
9 Carotenoids Phase 2, Phase 3
10 Retinol palmitate Phase 3
11 Tocotrienols Phase 3
12 Tocopherols Phase 3
13 Calciferol Phase 3
14 Anti-Infective Agents Phase 3
15 Antiviral Agents Phase 3
16 Expectorants Phase 3
17 Antidotes Phase 3
18 N-monoacetylcystine Phase 3
19 Respiratory System Agents Phase 3
20 Antioxidants Phase 3
21 Protective Agents Phase 3
22 Antihypertensive Agents Phase 3
23
Isopropyl unoprostone Phase 3 3777
24
Aflibercept Approved Phase 2 862111-32-8 124490314
25
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
26
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3 3680
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 3003 5743
28
Carbidopa Approved Phase 2 28860-95-9 34359 38101
29
Levodopa Approved Phase 2 59-92-7, 63-84-3 6047
30
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
31
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1, 93107-08-5 2764
32
Povidone-iodine Approved Phase 2 25655-41-8
33
Iodine Approved, Investigational Phase 2 7553-56-2 807
34
Povidone K30 Approved, Experimental, Withdrawn Phase 2 9003-39-8 6917 131751496
35
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
36
Minocycline Approved, Investigational Phase 2 10118-90-8, 13614-98-7 54675783 5281021
37
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
38
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
39
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
40
Sildenafil Approved, Investigational Phase 2 139755-83-2, 171599-83-0 5212 135398744
41
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
42
Cadexomer iodine Experimental Phase 2 94820-09-4
43
Varespladib methyl Investigational Phase 2 172733-08-3
44 Angiogenesis Inhibitors Phase 2
45 Immunologic Factors Phase 2
46 Adjuvants, Immunologic Phase 2
47 Antineoplastic Agents, Hormonal Phase 2
48 Hormones Phase 2
49 Hormone Antagonists Phase 2
50 Antiemetics Phase 2

Interventional clinical trials:

(show top 50) (show all 206)
# Name Status NCT ID Phase Drugs
1 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
2 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 Unknown status NCT01680510 Phase 2, Phase 3
3 Cord Blood Platelet-rich Plasma (CB-PRP) in Retinitis Pigmentosa Completed NCT04636853 Phase 3
4 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
5 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
6 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
7 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
8 Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Recruiting NCT04671433 Phase 3
9 Follow-up Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Recruiting NCT04794101 Phase 3
10 The Effect of Wharton Jelly-derived Mesenchymal Stem Cells and Stem Cell Exosomes on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT05413148 Phase 2, Phase 3
11 A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss Active, not recruiting NCT05176717 Phase 2, Phase 3 QR-421a
12 A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene (Sirius) Active, not recruiting NCT05158296 Phase 2, Phase 3 Ultevursen
13 A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects With Choroideremia Previously Treated With Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects With X-Linked Retinitis Pigmentosa Previously Treated With Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study Enrolling by invitation NCT03584165 Phase 3
14 NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa Not yet recruiting NCT05537220 Phase 3 N-acetylcysteine;Placebo
15 A Phase 2/3, Randomized, Controlled, Masked, Multi-center Study to Evaluate the Efficacy, Safety and Tolerability of Two Doses of AGTC-501, a Recombinant Adeno-associated Virus Vector Expressing RPGR (rAAV2tYF-GRK1-RPGR), Compared to an Untreated Control Group in Male Subjects With X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene Not yet recruiting NCT04850118 Phase 2, Phase 3
16 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
17 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
18 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Unknown status NCT02709876 Phase 1, Phase 2
19 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
20 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
21 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Unknown status NCT02837640 Phase 2 levodopa-carbidopa
22 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) Completed NCT03116113 Phase 1, Phase 2
23 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) Completed NCT03252847 Phase 1, Phase 2
24 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
25 Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa Completed NCT04315025 Phase 1, Phase 2
26 A Phase 2 Study of the Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT04604899 Phase 2
27 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
28 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 Completed NCT03780257 Phase 1, Phase 2 QR-421a
29 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) Completed NCT03073733 Phase 2
30 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
31 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
32 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
33 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
34 A Phase I/IIa Open Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Intravitreal vMCO-I in Patients With Advanced Retinitis Pigmentosa Completed NCT04919473 Phase 1, Phase 2
35 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
36 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
37 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
38 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
39 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
40 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
41 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 Completed NCT01530659 Phase 2 NT-501
42 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
43 Open-label, Multiple Dose, Dose Escalation Study to Evaluate the Safety/Tolerability and Efficacy of EA-2353 in Subjects With Retinitis Pigmentosa Recruiting NCT05392751 Phase 1, Phase 2 EA-2353
44 Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome Recruiting NCT04355689 Phase 1, Phase 2 NPI-001
45 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein) Recruiting NCT04120883 Phase 1, Phase 2 Hydroxychloroquine lower dose;Hydroxychloroquine higher dose
46 Phase 1/2, Safety and Efficacy Trial of BS01, a Recombinant Adeno-Associated Virus Vector Expressing ChronosFP in Patients With Retinitis Pigmentosa Recruiting NCT04278131 Phase 1, Phase 2 BS01
47 A Phase 1/2 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) and a Phase 2 Randomized, Controlled, Masked, Multi-center Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene Recruiting NCT03316560 Phase 1, Phase 2
48 Investigation of Therapeutic Efficacy and Safety of Umbilical Cord Derived Mesenchymal Stem Cells (UMSCs) for the Management of Retinitis Pigmentosa (RP) Recruiting NCT04763369 Phase 2
49 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
50 Phase 1/2 Study to Assess the Safety and Efficacy of Ocu400 for Retinitis Pigmentosa Associated With Nr2e3 and Rho Mutations and Leber Congenital Amaurosis With Mutation(S) in Cep290 Gene Recruiting NCT05203939 Phase 1, Phase 2 OCU400 Low Dose;OCU400 Mid Dose;OCU400 High Dose

Search NIH Clinical Center for Late-Onset Retinal Degeneration

Cochrane evidence based reviews: 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 28 C1QTNF5

Anatomical Context for Late-Onset Retinal Degeneration

Organs/tissues related to Late-Onset Retinal Degeneration:

MalaCards : Eye, Bone Marrow, Retina, Bone, Brain, Kidney, Heart

Publications for Late-Onset Retinal Degeneration

Articles related to Late-Onset Retinal Degeneration:

(show top 50) (show all 2043)
# 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. 62 57 5
12944416 2003
2
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. 62 5
33949280 2021
3
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. 62 5
28939808 2017
4
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. 62 57
11097607 2000
5
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. 62 57
8759344 1996
6
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 5
30723319 2019
7
Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series. 62
36469661 2022
8
"From the Time You Start With them Until the Lord Calls You": A Qualitative Study on the Experiences and Expectations of People Living with Advanced Cancer Interacting With Palliative Care Services in Uganda, Nigeria and Zimbabwe. 62
36089175 2022
9
Favipiravir in early symptomatic COVID-19, a randomised placebo-controlled trial. 62
36284645 2022
10
Goals, usefulness and abstraction in value-based choice. 62
36446707 2022
11
The Surgical Operation that Led to the Declaration of Independence and the Bill of Rights. 62
35506199 2022
12
Molecular phylogenetics reveals the evolutionary history of marine fishes (Actinopterygii) endemic to the subtropical islands of the Southwest Pacific. 62
35843570 2022
13
THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. 62
33055555 2022
14
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders. 62
36380535 2022
15
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion. 62
36181358 2022
16
Distinct Phenotypic Consequences of Pathogenic C1q-Tumor Necrosis Factor-5 Mutants Associated with Late-Onset Retinal Degeneration. 62
36328299 2022
17
Modeling fast acoustic streaming: Steady-state and transient flow solutions. 62
36397528 2022
18
The scientific reputation(s) of John Lubbock, Darwinian gentleman. 62
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Variations for Late-Onset Retinal Degeneration

ClinVar genetic disease variations for Late-Onset Retinal Degeneration:

5 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLA2G5 NM_000929.3(PLA2G5):c.280dup (p.Val94fs) DUP Pathogenic
812376 rs1569848362 GRCh37: 1:20416375-20416376
GRCh38: 1:20089882-20089883
2 C1QTNF5, MFRP NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr) SNV Pathogenic
1687105 GRCh37: 11:119210211-119210211
GRCh38: 11:119339501-119339501
3 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) DEL Pathogenic
548448 rs1567499068 GRCh37: 15:76866531-76866531
GRCh38: 15:76574190-76574190
4 USH2A-AS1, USH2A NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter) SNV Pathogenic
1708278 GRCh37: 1:216373050-216373050
GRCh38: 1:216199708-216199708
5 TULP1 NM_003322.6(TULP1):c.162dup (p.Thr55fs) DUP Pathogenic
1708378 GRCh37: 6:35479984-35479985
GRCh38: 6:35512207-35512208
6 USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=) SNV Pathogenic
2358 rs111033272 GRCh37: 1:216498841-216498841
GRCh38: 1:216325499-216325499
7 C1QTNF5, MFRP NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) SNV Likely Pathogenic
2126 rs111033578 GRCh37: 11:119210284-119210284
GRCh38: 11:119339574-119339574
8 PRPH2 NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) SNV Likely Pathogenic
98671 rs61755787 GRCh37: 6:42689604-42689604
GRCh38: 6:42721866-42721866
9 C1QTNF5, MFRP NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala) SNV Likely Pathogenic
813996 rs1591299252 GRCh37: 11:119210211-119210211
GRCh38: 11:119339501-119339501
10 C1QTNF5, MFRP NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn) SNV Uncertain Significance
813997 rs1591299258 GRCh37: 11:119210212-119210212
GRCh38: 11:119339502-119339502
11 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1629T>C SNV Uncertain Significance
877700 rs142208418 GRCh37: 11:119210040-119210040
GRCh38: 11:119339330-119339330
12 C1QTNF5, MFRP NM_031433.4(MFRP):c.*865A>T SNV Uncertain Significance
302934 rs752870533 GRCh37: 11:119211139-119211139
GRCh38: 11:119340429-119340429
13 C1QTNF5, MFRP NM_031433.4(MFRP):c.854-13G>A SNV Uncertain Significance
302935 rs886047821 GRCh37: 11:119211163-119211163
GRCh38: 11:119340453-119340453
14 C1QTNF5, MFRP NM_031433.4(MFRP):c.*849G>A SNV Uncertain Significance
878771 rs185696769 GRCh37: 11:119211409-119211409
GRCh38: 11:119340699-119340699
15 C1QTNF5, MFRP NM_031433.4(MFRP):c.*829G>A SNV Uncertain Significance
302937 rs886047822 GRCh37: 11:119211429-119211429
GRCh38: 11:119340719-119340719
16 C1QTNF5, MFRP NM_031433.4(MFRP):c.*732G>T SNV Uncertain Significance
302938 rs886047823 GRCh37: 11:119211526-119211526
GRCh38: 11:119340816-119340816
17 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1879C>T SNV Uncertain Significance
302920 rs886047816 GRCh37: 11:119209790-119209790
GRCh38: 11:119339080-119339080
18 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1864C>T SNV Uncertain Significance
879281 rs1356420825 GRCh37: 11:119209805-119209805
GRCh38: 11:119339095-119339095
19 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1839C>A SNV Uncertain Significance
879282 rs1950469140 GRCh37: 11:119209830-119209830
GRCh38: 11:119339120-119339120
20 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1140C>A SNV Uncertain Significance
302929 rs886047818 GRCh37: 11:119210529-119210529
GRCh38: 11:119339819-119339819
21 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1132A>G SNV Uncertain Significance
879321 rs746399664 GRCh37: 11:119210537-119210537
GRCh38: 11:119339827-119339827
22 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1786C>A SNV Uncertain Significance
302921 rs886047817 GRCh37: 11:119209883-119209883
GRCh38: 11:119339173-119339173
23 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1540T>C SNV Uncertain Significance
302924 rs779732274 GRCh37: 11:119210129-119210129
GRCh38: 11:119339419-119339419
24 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1463C>T SNV Uncertain Significance
302925 rs371634525 GRCh37: 11:119210206-119210206
GRCh38: 11:119339496-119339496
25 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1311G>A SNV Uncertain Significance
302926 rs368962202 GRCh37: 11:119210358-119210358
GRCh38: 11:119339648-119339648
26 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1290G>A SNV Uncertain Significance
302927 rs751401877 GRCh37: 11:119210379-119210379
GRCh38: 11:119339669-119339669
27 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1250G>A SNV Uncertain Significance
878728 rs779390261 GRCh37: 11:119210419-119210419
GRCh38: 11:119339709-119339709
28 C1QTNF5, MFRP NM_031433.4(MFRP):c.*895C>T SNV Uncertain Significance
302933 rs751853220 GRCh37: 11:119211109-119211109
GRCh38: 11:119340399-119340399
29 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1973G>T SNV Uncertain Significance
302919 rs551431328 GRCh37: 11:119209696-119209696
GRCh38: 11:119338986-119338986
30 PHF3, EYS NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) SNV Uncertain Significance
523415 rs1554163965 GRCh37: 6:64431408-64431408
GRCh38: 6:63721512-63721512
31 TOPORS NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala) SNV Uncertain Significance
523486 rs146483990 GRCh37: 9:32543144-32543144
GRCh38: 9:32543146-32543146
32 TOPORS NM_005802.5(TOPORS):c.2666A>G (p.His889Arg) SNV Uncertain Significance
523487 rs762457246 GRCh37: 9:32541857-32541857
GRCh38: 9:32541859-32541859
33 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1108C>A SNV Uncertain Significance
880509 rs554735772 GRCh37: 11:119210896-119210896
GRCh38: 11:119340186-119340186
34 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1024G>A SNV Uncertain Significance
302931 rs886047819 GRCh37: 11:119210980-119210980
GRCh38: 11:119340270-119340270
35 C1QTNF5, MFRP NM_031433.4(MFRP):c.*951C>G SNV Uncertain Significance
302932 rs886047820 GRCh37: 11:119211053-119211053
GRCh38: 11:119340343-119340343
36 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1289C>A SNV Uncertain Significance
852164 rs146971652 GRCh37: 11:119210380-119210380
GRCh38: 11:119339670-119339670
37 C1QTNF5, MFRP NM_031433.4(MFRP):c.583G>A (p.Ala195Thr) SNV Uncertain Significance
302968 rs886047833 GRCh37: 11:119216188-119216188
GRCh38: 11:119345478-119345478
38 C1QTNF5, MFRP NM_031433.4(MFRP):c.1560G>C (p.Leu520_Cys521=) SNV Uncertain Significance
302949 rs886047829 GRCh37: 11:119212438-119212438
GRCh38: 11:119341728-119341728
39 C1QTNF5, MFRP NM_031433.4(MFRP):c.456G>C (p.Arg152Ser) SNV Uncertain Significance
302971 rs756071297 GRCh37: 11:119216315-119216315
GRCh38: 11:119345605-119345605
40 C1QTNF5, MFRP NM_031433.4(MFRP):c.303C>T (p.Ser101_His102=) SNV Uncertain Significance
302974 rs530322096 GRCh37: 11:119216607-119216607
GRCh38: 11:119345897-119345897
41 C1QTNF5, MFRP NM_031433.4(MFRP):c.*9C>G SNV Uncertain Significance
302948 rs886047828 GRCh37: 11:119212249-119212249
GRCh38: 11:119341539-119341539
42 C1QTNF5, MFRP NM_031433.4(MFRP):c.*316C>G SNV Uncertain Significance
302942 rs556985308 GRCh37: 11:119211942-119211942
GRCh38: 11:119341232-119341232
43 C1QTNF5, MFRP NM_031433.4(MFRP):c.*178C>T SNV Uncertain Significance
302945 rs886047826 GRCh37: 11:119212080-119212080
GRCh38: 11:119341370-119341370
44 C1QTNF5, MFRP NM_031433.4(MFRP):c.642-2A>G SNV Uncertain Significance
497208 rs376898612 GRCh37: 11:119215716-119215716
GRCh38: 11:119345006-119345006
45 C1QTNF5, MFRP NM_031433.4(MFRP):c.1124+1G>T SNV Uncertain Significance
631652 rs145719998 GRCh37: 11:119214525-119214525
GRCh38: 11:119343815-119343815
46 C1QTNF5, MFRP NM_031433.4(MFRP):c.335C>T (p.Thr112Met) SNV Uncertain Significance
302973 rs145883448 GRCh37: 11:119216575-119216575
GRCh38: 11:119345865-119345865
47 C1QTNF5, MFRP NM_031433.4(MFRP):c.321C>T (p.Ala107_Gly108=) SNV Uncertain Significance
877118 rs562580805 GRCh37: 11:119216589-119216589
GRCh38: 11:119345879-119345879
48 C1QTNF5, MFRP NM_031433.4(MFRP):c.309C>G (p.Ser103Arg) SNV Uncertain Significance
877119 rs767087902 GRCh37: 11:119216601-119216601
GRCh38: 11:119345891-119345891
49 C1QTNF5, MFRP NM_031433.4(MFRP):c.*126G>C SNV Uncertain Significance
302946 rs886047827 GRCh37: 11:119212132-119212132
GRCh38: 11:119341422-119341422
50 C1QTNF5, MFRP NM_031433.4(MFRP):c.*116C>T SNV Uncertain Significance
877778 rs565342229 GRCh37: 11:119212142-119212142
GRCh38: 11:119341432-119341432

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

73
# Symbol AA change Variation ID SNP ID
1 C1QTNF5 p.Ser163Arg VAR_032629 rs111033578

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 11.1 RPE65 RLBP1 RHO
2
Show member pathways
10.64 RPE65 RLBP1 RHO

GO Terms for Late-Onset Retinal Degeneration

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.9 CRB1 PRCD PRPH2 RHO RPGR TULP1
2 periciliary membrane compartment GO:1990075 9.88 WHRN USH2A ADGRV1
3 stereocilia ankle link complex GO:0002142 9.85 WHRN USH2A ADGRV1
4 USH2 complex GO:1990696 9.8 WHRN USH2A ADGRV1
5 cell projection GO:0042995 9.77 WHRN USH2A TULP1 SIGMAR1 RPGR RHO
6 stereocilium membrane GO:0060171 9.73 USH2A ADGRV1
7 stereocilia ankle link GO:0002141 9.73 WHRN USH2A ADGRV1
8 stereocilium bundle GO:0032421 9.63 WHRN USH2A
9 photoreceptor inner segment GO:0001917 9.47 WHRN USH2A TULP1 RHO PRPH2 CRB1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 10.02 ADGRV1 CRB1 RHO TULP1 USH2A
2 detection of light stimulus involved in visual perception GO:0050908 10.01 TULP1 RPE65 PRPH2 CRB1
3 response to stimulus GO:0050896 10 USH2A TULP1 RPGR RPE65 RLBP1 RHO
4 retina homeostasis GO:0001895 9.97 WHRN TULP1 RPE65
5 eye photoreceptor cell development GO:0042462 9.97 TULP1 NR2E3 MFRP CRB1
6 establishment of protein localization GO:0045184 9.93 WHRN USH2A ADGRV1
7 inner ear receptor cell differentiation GO:0060113 9.91 ADGRV1 USH2A WHRN
8 photoreceptor cell outer segment organization GO:0035845 9.84 PRPH2 CRB1
9 vitamin A metabolic process GO:0006776 9.81 RPE65 RLBP1
10 sensory perception of light stimulus GO:0050953 9.8 WHRN USH2A RHO ADGRV1
11 retina development in camera-type eye GO:0060041 9.8 CRB1 MFRP NR2E3 PRPH2 RHO RPE65
12 maintenance of animal organ identity GO:0048496 9.78 USH2A ADGRV1
13 retina morphogenesis in camera-type eye GO:0060042 9.7 RPE65 CRB1
14 visual perception GO:0007601 9.68 USH2A TULP1 RPGR RPE65 RLBP1 RHO

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

# Name GO ID Score Top Affiliating Genes
1 11-cis retinal binding GO:0005502 8.92 RLBP1 RHO

Sources for Late-Onset Retinal Degeneration

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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