Peripheral Retinal Degeneration

Categories: Eye diseases, Neuronal diseases
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Aliases & Classifications for Peripheral Retinal Degeneration

MalaCards integrated aliases for Peripheral Retinal Degeneration:

Name: Peripheral Retinal Degeneration 11 14 31 33
Peripheral Degeneration of Retina 11 71 33
Reticular Retinal Degeneration 33
Degeneration of Retina Nos 33
Retinal Degeneration 33


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Disease Ontology 11 DOID:12161
ICD9CM 34 362.6
NCIt 49 C34919
SNOMED-CT 68 193393004
ICD10 31 H35.4
ICD11 33 1518234440
UMLS 71 C1320640

Summaries for Peripheral Retinal Degeneration

MalaCards based summary: Peripheral Retinal Degeneration, also known as peripheral degeneration of retina, is related to late-onset retinal degeneration and ceroid lipofuscinosis, neuronal, 3. An important gene associated with Peripheral Retinal Degeneration is CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin), and among its related pathways/superpathways are Visual phototransduction and Diseases of the neuronal system. The drugs Dorzolamide and Carbonic Anhydrase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and nervous system

Related Diseases for Peripheral Retinal Degeneration

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

(show top 50) (show all 694)
# Related Disease Score Top Affiliating Genes
1 late-onset retinal degeneration 32.1 RPGR RPE65 RLBP1 RHO ABCA4
2 ceroid lipofuscinosis, neuronal, 3 31.8 TPP1 PPT1 CLN5 CLN3
3 bietti crystalline corneoretinal dystrophy 31.3 RPGR RPE65 RLBP1 ABCA4
4 neuronal ceroid lipofuscinosis 31.0 TPP1 RPE65 PPT1 CLN5 CLN3 ABCA4
5 enhanced s-cone syndrome 30.9 RPGR RPE65 RHO CNGB3 CNGA3 ABCA4
6 neuronal ceroid-lipofuscinoses 30.7 PPT1 CLN5 CLN3
7 choroideremia 30.6 RPGR RPE65 RHO CNGB3 CNGA3 ABCA4
8 stargardt disease 1 30.4 COL2A1 CNGB3 CLN3 ABCA4
9 pathologic nystagmus 30.4 CNGB3 CNGA3
10 progressive cone dystrophy 30.4 RPGR CNGB3 CNGA3 ABCA4
11 ceroid lipofuscinosis, neuronal, 2 30.4 TPP1 PPT1 CLN5 CLN3
12 retinitis pigmentosa 4 30.2 RHO CNGA3
13 ceroid lipofuscinosis, neuronal, 7 30.1 PPT1 CLN3
14 mucopolysaccharidosis iii 30.1 TPP1 PPT1 CLN5 CLN3
15 severe early-childhood-onset retinal dystrophy 30.1 RPE65 CNGB3 ABCA4
16 cycloplegia 30.0 CNGB3 CNGA3
17 optic disk drusen 30.0 RPGR RHO ABCA4
18 vitreoretinal degeneration 30.0 TSPAN12 ABCA4
19 hereditary retinal dystrophy 30.0 RPE65 RLBP1 RHO ABCA4
20 glaucoma, primary open angle 30.0 WDR36 RHO ABCA4
21 scheie syndrome 29.9 TPP1 PPT1 CLN3
22 cone-rod dystrophy 1 29.9 RPGR CNGB3
23 macular retinal edema 29.9 RPE65 RHO ABCA4
24 retinal vascular disease 29.9 ZNF408 TSPAN12 RPE65 RHO
25 ceroid lipofuscinosis, neuronal, 11 29.9 TPP1 PPT1 CLN5 CLN3
26 ceroid lipofuscinosis, neuronal, 10 29.8 TPP1 PPT1 CLN5 CLN3
27 mucopolysaccharidosis, type iiia 29.8 TPP1 PPT1 CLN5 CLN3
28 cone-rod dystrophy 9 29.8 CNGB3 CNGA3
29 bardet-biedl syndrome 29.8 RPGR RPE65 RHO CERKL ABCA4
30 retinitis pigmentosa 20 29.8 RPE65 CNGB3
31 achromatopsia 2 29.8 CNGB3 CNGA3
32 retinitis pigmentosa 7 29.8 RPE65 RHO ABCA4
33 vitreoretinopathy 29.7 ZNF408 TSPAN12 COL2A1 ABCA4
34 retinal detachment 29.7 ZNF408 TSPAN12 RHO COL2A1
35 leber congenital amaurosis 2 29.7 RPGR RPE65 RHO CNGB3
36 retinal telangiectasia 29.7 ZNF408 TSPAN12
37 coats disease 29.7 ZNF408 TSPAN12 RHO
38 vitreous syneresis 29.7 RPGR COL2A1
39 cone-rod dystrophy 2 29.6 RPGR RPE65 RLBP1 RHO PPT1 POC1B
40 usher syndrome, type i 29.6 RPGR RPE65 RHO ABCA4
41 usher syndrome type 2 29.6 RPGR RPE65 RHO CERKL ABCA4
42 macular dystrophy, dominant cystoid 29.5 RPGR RPE65 RHO ABCA4
43 vitreous detachment 29.5 RPE65 RLBP1 LAMA5
44 scotoma 29.5 RPGR RPE65 RHO CNGB3 CNGA3 ABCA4
45 retinitis pigmentosa 26 29.5 RPGR RHO CNGB3 CNGA3 CERKL
46 exudative vitreoretinopathy 29.5 ZNF408 TSPAN12 RPGR ABCA4
47 vitreoretinochoroidopathy 29.5 RPE65 RLBP1 ABCA4
48 choroidal dystrophy, central areolar, 1 29.4 RPGR RPE65 RLBP1 CNGB3 CERKL ABCA4
49 macular holes 29.4 RPE65 RLBP1 ABCA4
50 exudative vitreoretinopathy 1 29.4 ZNF408 TSPAN12 RPE65 RHO

Graphical network of the top 20 diseases related to Peripheral Retinal Degeneration:

Diseases related to Peripheral Retinal Degeneration

Symptoms & Phenotypes for Peripheral Retinal Degeneration

GenomeRNAi Phenotypes related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ABCA4 CERKL CLN3 CLN5 CNGA3 CNGB3
2 no effect GR00402-S-2 10.15 ABCA4 CERKL CLN3 CLN5 CNGA3 CNGB3
3 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.5 CERKL CNGB3 COL2A1 RHO RPGR TSPAN12

MGI Mouse Phenotypes related to Peripheral Retinal Degeneration:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.83 ABCA4 CERKL CLN3 CLN5 CNGA3 CNGB3
2 pigmentation MP:0001186 9.7 ABCA4 CERKL PPT1 RHO RLBP1 RPE65
3 vision/eye MP:0005391 9.5 ABCA4 CERKL CLN3 CLN5 CNGA3 CNGB3

Drugs & Therapeutics for Peripheral Retinal Degeneration

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dorzolamide Approved Phase 4 120279-96-1 5284549
2 Carbonic Anhydrase Inhibitors Phase 4
3 Antihypertensive Agents Phase 4
Aflibercept Approved Phase 3 862111-32-8 124490314
Ranibizumab Approved Phase 3 347396-82-1
Cysteine Approved, Nutraceutical Phase 2, Phase 3 52-90-4 594 5862
7 Angiogenesis Inhibitors Phase 3
Coal tar Approved Phase 1, Phase 2 8007-45-2
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
Metformin Approved Phase 1, Phase 2 1115-70-4, 657-24-9 4091
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8, 13614-98-7 54675783 5281021
Ethanol Approved Phase 1, Phase 2 64-17-5 702
Disulfiram Approved Phase 1, Phase 2 97-77-8 3117
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
15 Anticonvulsants Phase 2
16 Neurotransmitter Agents Phase 2
17 Psychotropic Drugs Phase 2
18 Pharmaceutical Solutions Phase 1, Phase 2
19 Hypoglycemic Agents Phase 1, Phase 2
20 Anti-Bacterial Agents Phase 1, Phase 2
21 Complement System Proteins Phase 1, Phase 2
22 Endothelial Growth Factors Phase 2
23 Mitogens Phase 2
24 Antiviral Agents Phase 1, Phase 2
25 Anti-Infective Agents Phase 1, Phase 2
26 interferons Phase 1, Phase 2
27 Interferon-gamma Phase 1, Phase 2
28 Anesthetics Phase 1
Cannabidiol Approved, Investigational Early Phase 1 13956-29-1 521372 644019
Metronidazole Approved 443-48-1, 69198-10-3 4173
Lutein Approved, Investigational, Nutraceutical 127-40-2 5281243
32 Lemon Balm

Interventional clinical trials:

(show top 50) (show all 68)
# Name Status NCT ID Phase Drugs
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Completed NCT00716586 Phase 4 2% dorzolamide
2 A 52-week, Two Arm, Randomized, Open-label, Multicenter Study Assessing the Efficacy and Safety of Two Different Brolucizumab 6 mg Dosing Regimens for Patients With Suboptimal Anatomically Controlled Neovascular Age-related Macular Degeneration Recruiting NCT04679935 Phase 4
3 A 64-week, Two-arm, Randomized, Double-masked, Multicenter, Phase IIIb Study Assessing the Efficacy and Safety of Brolucizumab 6 mg Compared to Aflibercept 2 mg in a Treat-to-control Regimen in Patients With Neovascular Agerelated Macular Degeneration (TALON) Completed NCT04005352 Phase 3
4 A Single-Arm, Open-Label, Multicenter, Phase IIIb Study to Collect Safety and Electrocardiogram Data on Brolucizumab 6 mg Intravitreal Treatment in Patients With Neovascular Age-Related Macular Degeneration Completed NCT03954626 Phase 3
5 A Phase III b, Multicenter Study of the Efficacy and Safety of Aflibercept Switch in Patients With Exudative AMD With Detachment of the Retinal Pigment Epithelium and Previously Treated With Ranibizumab Intravitreal Injection. (ARI2) Completed NCT02157077 Phase 3 Aflibercept
6 An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age With Leber Congenital Amaurosis Type 10 (LCA10) Due to the c.2991 +1655A>G (p.Cys998X) Mutation. Recruiting NCT04855045 Phase 2, Phase 3 sepofarsen
7 Effectiveness and Safety of Subtenon Administration of Autologous Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Unknown status NCT02144103 Phase 1, Phase 2
8 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
9 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration Completed NCT00643747 Phase 1, Phase 2
10 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
11 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
12 A Phase I/II Controlled Dose-escalating Trial to Establish the Baseline Safety and Efficacy of a Single Subretinal Injection of rAAV.sFlt-1 Into Eyes of Patients With Exudative Age-related Macular Degeneration (AMD) Completed NCT01494805 Phase 1, Phase 2
13 Efficacy of Biweekly Ranibizumab (0.5 mg) for Exudative Macular Degeneration Retinal Edema Refractory to Anti-VEGF Therapy Comparing Syringe Preparation Time Using Ranibizumab Vial and Pre-filled Syringe Completed NCT03071055 Phase 2 Ranibizumab Injection [Lucentis]
14 Stem Cell Derived Retinal Pigmented Epithelium Implantation in Patients With Outer Retinal Degenerations: Phase I/II Clinical Trial Completed NCT02903576 Phase 1, Phase 2
15 Oral Metformin for Treatment of ABCA4 Retinopathy Recruiting NCT04545736 Phase 1, Phase 2 Metformin hydrochloride
16 The Efficacy and Safety of Minocycline for Chronic Autoimmune Uveitis Recruiting NCT05474729 Phase 1, Phase 2 minocycline
17 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of EDIT-101 in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26") Active, not recruiting NCT03872479 Phase 1, Phase 2 EDIT-101
18 FOCUS: An Open Label First in Human Phase I/II Multicentre Study to Evaluate the Safety, Dose Response and Efficacy of GT005 Administered as a Single Subretinal Injection in Subjects With Macular Atrophy Due to AMD Active, not recruiting NCT03846193 Phase 1, Phase 2
19 A Phase 2b Randomized, Double-Masked, Sham-Controlled, Study to Evaluate the Efficacy and Safety of Intravitreal Injection of vMCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] Active, not recruiting NCT04945772 Phase 2
20 A Cross-over Randomized Control Trial to Evaluate the Retinaldehyde Dehydrogenase Inhibitor, Disulfiram, in Improving Retinal Sensitivity in Eyes Affected by Inherited Retinal Degeneration Not yet recruiting NCT05626920 Phase 1, Phase 2 Disulfiram 250 mg;Placebo
21 An Open Label, Dose Exploration, Safety and Tolerability Study of a Subretinal Injection of an OPGx-001 Gene Vector to Participants With LCA5-Associated Inherited Retinal Degeneration (LCA5-IRD) Not yet recruiting NCT05616793 Phase 1, Phase 2
22 A Multicenter, Open-label, Multiple Dose Study in Patients With Geographic Atrophy Secondary to Dry Age-related Macular Degeneration to Evaluate the Safety, Tolerability, Pharmacodynamics, and Immunogenicity of Repeat Intravitreal Injections of GEM103 Terminated NCT04643886 Phase 2 GEM103
23 A Multicenter, Multiple-Dose Study in Neovascular Age-related Macular Degeneration (nAMD) to Evaluate the Safety, Tolerability, Pharmacodynamics, Immunogenicity, and Clinical Effect of Repeat Intravitreal (IVT) Injections of GEM103 as an Adjunct to Standard of Care Aflibercept Therapy Terminated NCT04684394 Phase 2 Aflibercept;Sham
24 A Randomized, Double-Masked, Placebo-Controlled, Dose- Finding, Non-Inferiority Study of X-82 Plus Prn Intravitreal (Ivt) Anti-VEGF Compared to Prn Ivt Anti-VEGF Monotherapy in Neovascular AMD Terminated NCT02348359 Phase 2 X-82;Anti-VEGF;Placebo
25 Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
26 Stem Cells Therapy in Degenerative Diseases of the Retina Unknown status NCT03772938 Phase 1
27 A Phase 1, Multicenter, Open-label, Single-dose, Dose-escalation Study in Patients With Geographic Atrophy (GA) Secondary to Dry Age-related Macular Degeneration (AMD) to Evaluate the Safety, Tolerability, Pharmacodynamics, and Immunogenicity of Intravitreal Injections of GEM103 Completed NCT04246866 Phase 1
29 A Phase 1, Open-Label, Multi-Center, Dose-Escalating, Safety and Tolerability Study of a Single Intravitreal Injection of AAV2-sFLT01 in Patients With Neovascular Age-Related Macular Degeneration Completed NCT01024998 Phase 1
30 A Phase 1 Dose Escalation Study Evaluating the Safety, Pharmacokinetics and Pharmacodynamics of OPT-302 in Combination With Ranibizumab in Subjects With Wet AMD Completed NCT02543229 Phase 1 OPT-302;Lucentis™
31 A Phase I, Double-masked, Placebo-controlled Study Evaluating The Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, And Immunogenicity Of Single Escalating Doses Of Rn6g In Patients With Dry, Age-related Macular Degeneration (Amd) Completed NCT00877032 Phase 1
32 Intravitreal Autologous Bone Marrow-derived Mesenchymal Stem Cell Transplantation in Patients With Advanced Glaucoma. Phase I: Safety Study. Completed NCT02330978 Phase 1
33 Natural History Study of CEP290-Related Retinal Degeneration Completed NCT03396042
34 Quality of Life Measures in Patients With Retinal Degeneration Completed NCT02814435
35 Color Vision as an Outcome Measure for Clinical Trials of Inherited Retinal Degenerations Completed NCT01878032
36 A Multi-Center Study of Reading Rehabilitation in Macular Disease Completed NCT00746668
37 Scleral Depression Pain With Schocket Depressor and Cotton Tipped Applicator: Depression Eye Pain Relief Evaluation Study (DEPRESS) Completed NCT04115917
38 Changes of Macular Pigment Optical Density and Parameters After Nd: YAG Laser Posterior Capsulotomy in Cases With Posterior Capsule Opacification Completed NCT03321253
39 Combined Coaxial Optical Coherence Tomography System to Image the Retina and Choroidal Structures and Estimate Tissue Reflectivity in Healthy and Diseased Retinas Completed NCT03843840
40 Pathophysiological Analysis of Ocular Ischemic Syndrome and the Response to Vascular Surgery Completed NCT00403195
41 Measuring Reading Rehabilitation Outcomes Completed NCT00125632
42 Studies of Patients With Skin Disease, Patients With Neurological Degenerations, and Normal Volunteers Completed NCT00001164
43 Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients: A Prospective Multicenter Clinical Study Based on Randomized Intra-individual Implant Activation in Patients With Degenerative Retinal Diseases Completed NCT01024803
44 The Effect of Laser Pan-retinal Photocoagulation on Macular Pigment Optical Density in Cases With Diabetic Retinopathy Completed NCT03150654
45 Molecular Genetics of Retinal Degenerations Completed NCT00231010
46 Safety & Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients: A Prospective Mono- & Multicenter Clinical Study Based on Randomized Intra-individual Implant Activation in Degenerative Retinal Disease Patients. Completed NCT01497379
47 The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration Completed NCT03492853
48 Adaptive Optics Imaging of Outer Retinal Diseases Recruiting NCT05355415
49 Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Recruiting NCT04765345
50 Bimodal and Coaxial High Resolution Ophtalmic Imaging Recruiting NCT04620876

Search NIH Clinical Center for Peripheral Retinal Degeneration

Genetic Tests for Peripheral Retinal Degeneration

Anatomical Context for Peripheral Retinal Degeneration

Organs/tissues related to Peripheral Retinal Degeneration:

MalaCards : Retina, Eye, Bone Marrow, Brain, Bone, Endothelial, Skin

Publications for Peripheral Retinal Degeneration

Articles related to Peripheral Retinal Degeneration:

(show top 50) (show all 7375)
# Title Authors PMID Year
Neural and Müller glial adaptation of the retina to photoreceptor degeneration. 62
36204825 2023
Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant. 62
36420180 2023
Neuroprotective effects of exogenous brain-derived neurotrophic factor on amyloid-beta 1-40-induced retinal degeneration. 62
35900434 2023
Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture. 62
36455383 2022
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. 62
36007554 2022
Stem cells for treating retinal degeneration. 62
36474335 2022
X-linked retinoschisis: About a case. 62
36341910 2022
Mimicking chronic glaucoma over 6 months with a single intracameral injection of dexamethasone/fibronectin-loaded PLGA microspheres. 62
35904152 2022
Accelerated aging phenotypes in the retinal pigment epithelium of Zmpste24-deficient mice. 62
36201882 2022
Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy. 62
35818441 2022
Interleukin-4 promotes microglial polarization toward a neuroprotective phenotype after retinal ischemia/reperfusion injury. 62
35662225 2022
Acellularized Uvea Hydrogel as Novel Injectable Platform for Cell-Based Delivering Treatment of Retinal Degeneration and Optimizing Retinal Organoids Inducible System. 62
36189847 2022
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration. 62
34837036 2022
Immune response in retinal degenerative diseases - Time to rethink? 62
36075351 2022
Fermented maize slurry (Ogi) and its supernatant (Omidun) mitigate elevated intraocular pressure by modulating BDNF expression and glial plasticity in the retina-gut axis of glaucomatous rats. 62
34380184 2022
Construct Validity of Inherited Retinal Disease Specific Patient Reported Outcome Measures. 62
36470512 2022
Normative Data and Conversion Equation for Spectral-Domain Optical Coherence Tomography in an International Healthy Control Cohort. 62
36049213 2022
Evolution of focal choroidal excavation in ABCA4-related retinopathy. 62
36393906 2022
Simulating the impact of photoreceptor loss and inner retinal network changes on electrical activity of the retina. 62
36368033 2022
Isozyme-specific histone deacetylase 1/2 inhibitor K560 attenuates oxidative stress-induced retinal cell death. 62
36435210 2022
Overview of Retinal Gene Therapy: Current Status and Future Challenges. 62
36376080 2022
Ciliary neurotrophic factor-mediated neuroprotection involves enhanced glycolysis and anabolism in degenerating mouse retinas. 62
36396639 2022
Competency of iPSC-derived retinas in MHC-mismatched transplantation in non-human primates. 62
36306783 2022
GADD34 Ablation Exacerbates Retinal Degeneration in P23H RHO Mice. 62
36430227 2022
Mitochondrial Transplantation Moderately Ameliorates Retinal Degeneration in Royal College of Surgeons Rats. 62
36359403 2022
Optogenetic restoration of high sensitivity vision with bReaChES, a red-shifted channelrhodopsin. 62
36369267 2022
Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish. 62
36396940 2022
Microglia activation in the hippocampus mediates retinal degeneration-induced depressive-like behaviors via the NLRP3/IL-1β pathway. 62
36332880 2022
Targeting TSPO Reduces Inflammation and Apoptosis in an In Vitro Photoreceptor-Like Model of Retinal Degeneration. 62
36300862 2022
Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics. 62
36374771 2022
Visual perception and macular integrity in non-classical CLN2 disease. 62
35652945 2022
Analysis of Posterior Vitreous Detachment and Development of Complications Using a Large Database of Retina Specialists. 62
36423892 2022
Fat mass and obesity-associated protein alleviates Aβ1-40 induced retinal pigment epithelial cells degeneration via PKA/CREB signaling pathway. 62
36378581 2022
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report. 62
36426739 2022
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders. 62
36380535 2022
33165303 2022
Ophthalmic manifestations of ROSAH Syndrome, an inherited NF-κB mediated autoinflammatory disease with retinal dystrophy. 62
36332842 2022
Retinal Vascular Plexuses Are Unequally Affected in Canine Inherited Retinal Degenerations. 62
36378130 2022
Tissue-Specific Gamma-Flicker Light Noninvasively Ameliorates Retinal Aging. 62
34698960 2022
Optogenetic approaches to therapy for inherited retinal degenerations. 62
35908243 2022
Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution. 62
36240775 2022
The medaka mutant deficient in eyes shut homolog exhibits opsin transport defects and enhanced autophagy in retinal photoreceptors. 62
36418571 2022
RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History. 62
36423731 2022
Trans-Sclera Electrical Stimulation Improves Retinal Function in a Mouse Model of Retinitis Pigmentosa. 62
36431052 2022
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early onset recessive rod-cone degeneration. 62
36376065 2022
Loss-of-function approach using the mouse retinal explants showed pivotal roles of Nmnat2 for early and middle stages of retinal development. 62
36322391 2022
33055555 2022
Update on the Corneal Dystrophies-Genetic Testing and Therapy. 62
36219210 2022
Optical coherence tomography as a prognostic tool for disability progression in MS: a systematic review. 62
36372866 2022
Retinal neurodegeneration in a mouse model of green-light-induced myopia. 62
35944726 2022

Variations for Peripheral Retinal Degeneration

Expression for Peripheral Retinal Degeneration

Search GEO for disease gene expression data for Peripheral Retinal Degeneration.

Pathways for Peripheral Retinal Degeneration

GO Terms for Peripheral Retinal Degeneration

Cellular components related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular anatomical entity GO:0110165 9.56 LAMA5 COL2A1 CLN3 ABCA4
2 transmembrane transporter complex GO:1902495 9.46 CNGB3 CNGA3
3 photoreceptor outer segment GO:0001750 9.32 RPGR RHO CNGB3 CERKL ABCA4
4 intracellular cyclic nucleotide activated cation channel complex GO:0017071 9.26 CNGB3 CNGA3

Biological processes related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein catabolic process GO:0030163 9.99 TPP1 PPT1 CLN5
2 branching involved in salivary gland morphogenesis GO:0060445 9.8 LAMA5 LAMA1
3 retina development in camera-type eye GO:0060041 9.78 RPE65 RHO LAMA1
4 retina homeostasis GO:0001895 9.77 WDR36 RPE65 POC1B
5 phototransduction, visible light GO:0007603 9.76 RHO ABCA4
6 lysosomal protein catabolic process GO:1905146 9.73 TPP1 CLN3
7 lysosomal lumen acidification GO:0007042 9.73 CLN3 CLN5 PPT1
8 response to stimulus GO:0050896 9.73 ABCA4 CNGA3 CNGB3 PPT1 RHO RLBP1
9 vitamin A metabolic process GO:0006776 9.71 RPE65 RLBP1
10 lysosome organization GO:0007040 9.7 TPP1 PPT1 CLN5 CLN3
11 visual perception GO:0007601 9.64 WDR36 RPGR RPE65 RLBP1 RHO PPT1
12 positive regulation of pinocytosis GO:0048549 9.62 PPT1 CLN3

Molecular functions related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular cAMP-activated cation channel activity GO:0005222 9.62 CNGB3 CNGA3
2 lysophosphatidic acid binding GO:0035727 9.56 TPP1 PPT1
3 intracellular cGMP-activated cation channel activity GO:0005223 9.46 CNGB3 CNGA3
4 11-cis retinal binding GO:0005502 9.43 RLBP1 RHO ABCA4
5 sulfatide binding GO:0120146 9.1 TPP1 PPT1 CLN3

Sources for Peripheral Retinal Degeneration

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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