MCID: RTN016
MIFTS: 52

Retinal Degeneration

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinal Degeneration

MalaCards integrated aliases for Retinal Degeneration:

Name: Retinal Degeneration 12 73 29 54 6 44 15 39 70
Degeneration of Retina 12

Classifications:



External Ids:

Disease Ontology 12 DOID:8466
MeSH 44 D012162
NCIt 50 C34979
SNOMED-CT 67 95695004
UMLS 70 C0035304

Summaries for Retinal Degeneration

Disease Ontology : 12 A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.

MalaCards based summary : Retinal Degeneration, also known as degeneration of retina, is related to late-onset retinal degeneration and retinitis pigmentosa. An important gene associated with Retinal Degeneration is RPE65 (Retinoid Isomerohydrolase RPE65). The drugs Dorzolamide and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are nervous system and pigmentation

Wikipedia : 73 Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy... more...

Related Diseases for Retinal Degeneration

Diseases in the Retinal Degeneration family:

Late-Onset Retinal Degeneration

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

(show top 50) (show all 536)
# Related Disease Score Top Affiliating Genes
1 late-onset retinal degeneration 33.8 RPE65 PRPH2 NR2E3 CRB1 C1QTNF5
2 retinitis pigmentosa 33.2 TULP1 RPE65 RD3 PRPH2 PITPNM1 NRL
3 macular degeneration, age-related, 1 33.1 RPE65 PRPH2 NRL NR2E3 CRB1
4 peripheral retinal degeneration 33.0 PRPH2 CRB1 CLN3
5 cone-rod dystrophy 2 32.8 TULP1 RPE65 RD3 PRPH2 PITPNM1 NRL
6 enhanced s-cone syndrome 32.7 RPE65 NRL NR2E3
7 pseudoretinitis pigmentosa 32.7 TULP1 CRB1
8 leber congenital amaurosis 4 32.4 TULP1 RPE65 RD3 CRB1
9 retinal disease 32.3 TULP1 RPE65 PRPH2 NRL NR2E3 CRB1
10 fundus dystrophy 32.2 TULP1 RPE65 RD3 PRPH2 PITPNM1 NRL
11 leber plus disease 32.0 TULP1 RPE65 RD3 PRPH2 NRL NR2E3
12 night blindness 31.9 RPE65 PRPH2 NRL NR2E3 CRB1
13 stargardt disease 31.7 TULP1 RPE65 PRPH2 NRL NR2E3 CRB1
14 eye disease 31.6 RPE65 PRPH2 NRL NR2E3 CRB1
15 usher syndrome 31.6 TULP1 RPE65 PRPH2 NRL NR2E3 CRB1
16 cone dystrophy 31.5 TULP1 RPE65 PRPH2 PITPNM1 NRL NR2E3
17 achromatopsia 31.4 TULP1 RPE65 RD3 PRPH2 NRL NR2E3
18 congenital stationary night blindness 31.4 TULP1 RPE65 RD3 PRPH2 NRL NR2E3
19 joubert syndrome 1 31.3 TULP1 RPE65 RD3 PITPNM1 CRB1
20 fundus albipunctatus 31.3 TULP1 RPE65 PRPH2 NR2E3 CRB1
21 hereditary retinal dystrophy 31.3 RPE65 PRPH2 CRB1
22 pathologic nystagmus 31.3 TULP1 RPE65 CRB1
23 leber congenital amaurosis 2 31.2 TULP1 RPE65 RD3 CRB1
24 retinoschisis 1, x-linked, juvenile 31.2 RPE65 NRL NR2E3 CRB1
25 leber congenital amaurosis 1 31.1 TULP1 RPE65 RD3 PRPH2 CRB1
26 senior-loken syndrome 1 31.1 TULP1 RPE65 PRPH2 CRB1
27 retinitis pigmentosa 1 31.1 PRPH2 NRL NR2E3
28 leber congenital amaurosis 8 31.0 TULP1 RPE65 CRB1
29 usher syndrome type 2 31.0 TULP1 RPE65 PRPH2 NR2E3 CRB1
30 choroidal dystrophy, central areolar, 1 31.0 RPE65 PRPH2 PITPNM1 NR2E3
31 nanophthalmos 30.9 RPE65 PRPH2 NRL NR2E3 CRB1 C1QTNF5
32 leber congenital amaurosis 12 30.9 RPE65 RD3
33 leber congenital amaurosis 10 30.9 TULP1 RPE65 RD3 CRB1
34 stargardt disease 1 30.8 TULP1 PRPH2 CRB1 CLN3
35 scotoma 30.8 RPE65 CRB1
36 leber congenital amaurosis 9 30.8 TULP1 RPE65 CRB1
37 keratoconus 30.8 TULP1 RPE65 RD3 CRB1
38 cone-rod dystrophy 6 30.7 RPE65 RD3 PRPH2
39 vitelliform macular dystrophy 30.7 RPE65 PRPH2 CRB1
40 leber congenital amaurosis 3 30.6 TULP1 RPE65 RD3 CRB1
41 bestrophinopathy, autosomal recessive 30.6 RPE65 PRPH2 CRB1
42 optic nerve hypoplasia, bilateral 30.5 RPE65 NRL CRB1
43 athetosis 30.5 CP ACO2
44 leber congenital amaurosis 5 30.4 TULP1 RD3
45 leber congenital amaurosis 15 30.4 TULP1 RD3
46 leber congenital amaurosis 6 30.3 TULP1 CRB1
47 retinitis pigmentosa 38 30.3 TULP1 RPE65
48 vitreoretinochoroidopathy 30.2 RPE65 PRPH2
49 infantile cerebellar-retinal degeneration 11.8
50 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 11.6

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



Diseases related to Retinal Degeneration

Symptoms & Phenotypes for Retinal Degeneration

MGI Mouse Phenotypes related to Retinal Degeneration:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 ATXN7 C1QTNF5 CLN3 CP CRB1 NR2E3
2 pigmentation MP:0001186 9.5 C1QTNF5 CP CRB1 NRL PRPH2 RPE65
3 vision/eye MP:0005391 9.5 ATXN7 C1QTNF5 CLN3 CP CRB1 IQCE

Drugs & Therapeutics for Retinal Degeneration

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
2 Antihypertensive Agents Phase 4
3 Carbonic Anhydrase Inhibitors Phase 4
4
Ranibizumab Approved Phase 3 347396-82-1 459903
5
Coal tar Approved Phase 1, Phase 2 8007-45-2
6
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
7
Metformin Approved Phase 1, Phase 2 657-24-9 4091 14219
8
Bevacizumab Approved, Investigational Phase 2 216974-75-3
9
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
10 Anesthetics Phase 1, Phase 2
11 Anticonvulsants Phase 2
12 Pharmaceutical Solutions Phase 1, Phase 2
13 Psychotropic Drugs Phase 2
14 Neurotransmitter Agents Phase 2
15 Complement System Proteins Phase 1, Phase 2
16 Hypoglycemic Agents Phase 1, Phase 2
17 Angiogenesis Inhibitors Phase 2
18 Mitogens Phase 2
19 Antineoplastic Agents, Immunological Phase 2
20 Endothelial Growth Factors Phase 2
21 Antiviral Agents Phase 1, Phase 2
22 interferons Phase 1, Phase 2
23 Anti-Infective Agents Phase 1, Phase 2
24 Interferon-gamma Phase 1, Phase 2
25 Neuroprotective Agents Phase 1
26
Metronidazole Approved 443-48-1 4173
27 Lemon Balm
28 Epidiolex Early Phase 1

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
2 Pain Perception at Laser Treatment of Peripheral Retinal Degenerations With Green and Infrared Wavelengths Completed NCT01033968 Phase 4
3 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 Not yet recruiting NCT04679935 Phase 4
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 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) Recruiting NCT04005352 Phase 3
7 A Safety and Feasibility Study of the TheraSight(TM) Ocular Brachytherapy System for Treatment of Age-Related Macular Degeneration Unknown status NCT00100087 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 Effectiveness and Safety of Subtenon Administration of Autologous Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Unknown status NCT02144103 Phase 1, Phase 2
10 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
11 Stem Cell Derived Retinal Pigmented Epithelium Implantation in Patients With Outer Retinal Degenerations: Phase I/II Clinical Trial Completed NCT02903576 Phase 1, Phase 2
12 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]
13 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
14 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
15 Phase 1/2a Study of the Safety and Bioactivity of AXT-107 in Subjects With Diabetic Macular Edema (DME) Recruiting NCT04697758 Phase 1, Phase 2 AXT107 0.1 mg;AXT107 0.25 mg;AXT107 0.5 mg
16 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
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") Recruiting NCT03872479 Phase 1, Phase 2 EDIT-101
18 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 Recruiting NCT04684394 Phase 2 sham + SoC
19 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 Recruiting NCT04643886 Phase 2 GEM103
20 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 Recruiting NCT03846193 Phase 1, Phase 2
21 Oral Metformin for Treatment of ABCA4 Retinopathy Recruiting NCT04545736 Phase 1, Phase 2 Metformin hydrochloride
22 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis Active, not recruiting NCT02416622 Phase 1, Phase 2
23 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
24 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
25 Stem Cells Therapy in Degenerative Diseases of the Retina Unknown status NCT03772938 Phase 1
26 A Phase I Open-Label, Dose Escalation Trial of QPI-1007 Delivered by a Single Intravitreal Injection to Patients With Optic Nerve Atrophy (Stratum I) and Acute Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION) (Stratum II) Completed NCT01064505 Phase 1 QPI-1007 at various doses
27 Intravitreal Autologous Bone Marrow-derived Mesenchymal Stem Cell Transplantation in Patients With Advanced Glaucoma. Phase I: Safety Study. Completed NCT02330978 Phase 1
28 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™
29 A Phase 1, Double-Masked, Placebo-Controlled Study Evaluating The Safety, Tolerability, Immunogenicity, Pharmacokinetics, And Pharmacodynamics Of Multiple Escalating Dosages Of RN6G In Subjects With Advanced Dry, Age-Related Macular Degeneration (AMD) Including Geographic Atrophy Completed NCT01003691 Phase 1
30 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
31 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
32 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
33 Performance of Optimized Long-wavelength Fundus Autofluorescence Imaging in Patients With Retinal Diseases Unknown status NCT03592017
34 Combined Coaxial Optical Coherence Tomography System to Image the Retina and Choroidal Structures and Estimate Tissue Reflectivity in Healthy and Diseased Retinas Unknown status NCT03843840
35 Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease Completed NCT01977846
36 Post-Market Study of the Argus® II Retinal Prosthesis System - France Completed NCT02303288
37 Pathophysiological Analysis of Ocular Ischemic Syndrome and the Response to Vascular Surgery Completed NCT00403195
38 Quality of Life Measures in Patients With Retinal Degeneration Completed NCT02814435
39 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
40 Molecular Genetics of Retinal Degenerations Completed NCT00231010
41 The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration Completed NCT03492853
42 Color Vision as an Outcome Measure for Clinical Trials of Inherited Retinal Degenerations Completed NCT01878032
43 Measuring Reading Rehabilitation Outcomes Completed NCT00125632
44 Studies of Patients With Skin Disease, Patients With Neurological Degenerations, and Normal Volunteers Completed NCT00001164
45 The Effect of Laser Pan-retinal Photocoagulation on Macular Pigment Optical Density in Cases With Diabetic Retinopathy Completed NCT03150654
46 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
47 Changes of Macular Pigment Optical Density and Parameters After Nd: YAG Laser Posterior Capsulotomy in Cases With Posterior Capsule Opacification Completed NCT03321253
48 A Multi-Center Study of Reading Rehabilitation in Macular Disease Completed NCT00746668
49 Scleral Depression Pain With Schocket Depressor and Cotton Tipped Applicator: Depression Eye Pain Relief Evaluation Study (DEPRESS) Completed NCT04115917
50 A Controlled Study of the Effect of Cannabis on Visual Functions in Healthy Subjects and in Retinitis Pigmentosa Patients Recruiting NCT03078309 Early Phase 1 cannabis

Search NIH Clinical Center for Retinal Degeneration

Cochrane evidence based reviews: retinal degeneration

Genetic Tests for Retinal Degeneration

Genetic tests related to Retinal Degeneration:

# Genetic test Affiliating Genes
1 Retinal Degeneration 29

Anatomical Context for Retinal Degeneration

MalaCards organs/tissues related to Retinal Degeneration:

40
Retina, Eye, Bone Marrow, Cortex, Brain, Endothelial, Pituitary

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 6754)
# Title Authors PMID Year
1
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. 6 61
31903486 2020
2
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. 6 61
31345061 2019
3
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. 61 6
29232904 2017
4
FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase. 61 54
20356843 2010
5
Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa. 61 54
19952284 2010
6
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 54 61
20061330 2010
7
The dependence of retinal degeneration caused by the rhodopsin P23H mutation on light exposure and vitamin a deprivation. 61 54
19933196 2010
8
CNTF induces regeneration of cone outer segments in a rat model of retinal degeneration. 54 61
20209167 2010
9
Morphological alterations in retinal neurons in the S334ter-line3 transgenic rat. 54 61
20127257 2010
10
Morphological changes of short-wavelength cones in the developing S334ter-3 transgenic rat. 61 54
20114037 2010
11
Deafness and retinal degeneration in a novel USH1C knock-in mouse model. 54 61
20095043 2010
12
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. 61 54
20238065 2010
13
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. 61 54
19710705 2010
14
CREB1/ATF1 activation in photoreceptor degeneration and protection. 54 61
19643965 2009
15
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. 54 61
19756182 2009
16
Light responses in rods of vitamin A-deprived Xenopus. 61 54
19407019 2009
17
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. 54 61
19459154 2009
18
Dual transgenic reporter mice as a tool for monitoring expression of glial fibrillary acidic protein. 61 54
19457099 2009
19
[Gene therapy for inherited retinal dystrophies]. 61 54
19820803 2009
20
Stable retinal gene expression in nonhuman primates via subretinal injection of SIVagm-based lentiviral vectors. 54 61
19257835 2009
21
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 61 54
19430481 2009
22
Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy. 61 54
19094986 2009
23
Effects of pituitary adenylate cyclase activating polypeptide and its fragments on retinal degeneration induced by neonatal monosodium glutamate treatment. 61 54
19456357 2009
24
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 61 54
19074801 2009
25
Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4. 61 54
19153612 2009
26
Accumulation of rhodopsin in late endosomes triggers photoreceptor cell degeneration. 61 54
19214218 2009
27
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. 61 54
18826961 2009
28
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 54 61
18665195 2009
29
Mutation of a TADR protein leads to rhodopsin and Gq-dependent retinal degeneration in Drosophila. 54 61
19074021 2008
30
Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity. 54 61
18955594 2008
31
Restoration of visual function in retinal degeneration mice by ectopic expression of melanopsin. 54 61
18836071 2008
32
Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis. 54 61
18265413 2008
33
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. 61 54
18507827 2008
34
Survival and remodeling of melanopsin cells during retinal dystrophy. 61 54
18442436 2008
35
Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. 54 61
17904189 2008
36
Chronic intravitreous infusion of ciliary neurotrophic factor modulates electrical retinal stimulation thresholds in the RCS rat. 61 54
18172115 2008
37
On the role of CNTF as a potential therapy for retinal degeneration: Dr. Jekyll or Mr. Hyde? 54 61
18188927 2008
38
A novel form of transducin-dependent retinal degeneration: accelerated retinal degeneration in the absence of rod transducin. 54 61
18055791 2007
39
Increased expression of glial cell line-derived neurotrophic factor protects against oxidative damage-induced retinal degeneration. 54 61
17935603 2007
40
Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume. 54 61
17968025 2007
41
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 54 61
17962469 2007
42
The rdgB gene of Drosophila: a link between vision and olfaction. 54 61
18161590 2007
43
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 54 61
17724218 2007
44
Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin. 54 61
17715341 2007
45
Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. 61 54
17699662 2007
46
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. 61 54
17377520 2007
47
Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F. 54 61
17488458 2007
48
Prominin-2 is a cholesterol-binding protein associated with apical and basolateral plasmalemmal protrusions in polarized epithelial cells and released into urine. 54 61
17109118 2007
49
Molecular and cellular alterations induced by sustained expression of ciliary neurotrophic factor in a mouse model of retinitis pigmentosa. 61 54
17325188 2007
50
Evidence for a molecular link between the tuberous sclerosis complex and the Crumbs complex. 61 54
17234746 2007

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

6 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPE65 NM_000329.3(RPE65):c.1338+1G>A SNV Pathogenic 374139 rs1057518922 GRCh37: 1:68896964-68896964
GRCh38: 1:68431281-68431281
2 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) SNV Pathogenic 30261 rs387906836 GRCh37: 6:35471540-35471540
GRCh38: 6:35503763-35503763
3 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs) Deletion Pathogenic 638149 rs773701437 GRCh37: 7:2625907-2625916
GRCh38: 7:2586273-2586282
4 YARS1 NM_003680.3:c.806T>C SNV Likely pathogenic 996695 GRCh37: 1:33252555-33252555
GRCh38: 1:32786954-32786954
5 SLC6A6 NM_003043.5(SLC6A6):c.1196G>T (p.Gly399Val) SNV Likely pathogenic 870334 GRCh37: 3:14513812-14513812
GRCh38: 3:14472304-14472304
6 SLC6A6 NM_003043.5(SLC6A6):c.233C>A (p.Ala78Glu) SNV Likely pathogenic 870335 GRCh37: 3:14487228-14487228
GRCh38: 3:14445720-14445720
7 C1QTNF5 , MFRP NM_031433.4(MFRP):c.975+10G>A SNV Uncertain significance 302957 rs886047832 GRCh37: 11:119215015-119215015
GRCh38: 11:119344305-119344305
8 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1311G>A SNV Uncertain significance 302926 rs368962202 GRCh37: 11:119210358-119210358
GRCh38: 11:119339648-119339648
9 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) SNV Uncertain significance 167294 rs145319149 GRCh37: 11:119214636-119214636
GRCh38: 11:119343926-119343926
10 C1QTNF5 , MFRP NM_031433.4(MFRP):c.629G>T (p.Gly210Val) SNV Uncertain significance 167296 rs150902999 GRCh37: 11:119216142-119216142
GRCh38: 11:119345432-119345432
11 C1QTNF5 , MFRP NM_031433.4(MFRP):c.190C>T (p.Arg64Cys) SNV Uncertain significance 302979 rs147490836 GRCh37: 11:119216837-119216837
GRCh38: 11:119346127-119346127
12 C1QTNF5 , MFRP NM_031433.4(MFRP):c.941C>A (p.Thr314Asn) SNV Uncertain significance 302960 rs755974208 GRCh37: 11:119215059-119215059
GRCh38: 11:119344349-119344349
13 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1540T>C SNV Uncertain significance 302924 rs779732274 GRCh37: 11:119210129-119210129
GRCh38: 11:119339419-119339419
14 C1QTNF5 , MFRP NM_031433.4(MFRP):c.796C>T (p.Arg266Cys) SNV Uncertain significance 288043 rs138295825 GRCh37: 11:119215444-119215444
GRCh38: 11:119344734-119344734
15 C1QTNF5 , MFRP NM_031433.4(MFRP):c.971A>G (p.Gln324Arg) SNV Uncertain significance 302958 rs142198552 GRCh37: 11:119215029-119215029
GRCh38: 11:119344319-119344319
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.976-14A>C SNV Uncertain significance 302956 rs200069261 GRCh37: 11:119214688-119214688
GRCh38: 11:119343978-119343978
18 C1QTNF5 , MFRP NM_031433.4(MFRP):c.58G>A (p.Glu20Lys) SNV Uncertain significance 302981 rs529716845 GRCh37: 11:119217081-119217081
GRCh38: 11:119346371-119346371
19 C1QTNF5 , MFRP NM_031433.4(MFRP):c.861C>T (p.Asp287=) SNV Uncertain significance 302963 rs140710522 GRCh37: 11:119215379-119215379
GRCh38: 11:119344669-119344669
20 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn) SNV Uncertain significance 302952 rs886047830 GRCh37: 11:119212607-119212607
GRCh38: 11:119341897-119341897
21 C1QTNF5 , MFRP NM_031433.4(MFRP):c.807G>A (p.Gln269=) SNV Uncertain significance 302964 rs371537663 GRCh37: 11:119215433-119215433
GRCh38: 11:119344723-119344723
22 C1QTNF5 , MFRP NM_031433.4(MFRP):c.192C>G (p.Arg64=) SNV Uncertain significance 302977 rs200143181 GRCh37: 11:119216835-119216835
GRCh38: 11:119346125-119346125
23 C1QTNF5 , MFRP NM_031433.4(MFRP):c.505C>T (p.His169Tyr) SNV Uncertain significance 302969 rs886047834 GRCh37: 11:119216266-119216266
GRCh38: 11:119345556-119345556
24 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*652G>A SNV Uncertain significance 302940 rs886047824 GRCh37: 11:119211606-119211606
GRCh38: 11:119340896-119340896
25 C1QTNF5 , MFRP NM_031433.4(MFRP):c.159T>C (p.Gly53=) SNV Uncertain significance 196561 rs372897338 GRCh37: 11:119216868-119216868
GRCh38: 11:119346158-119346158
26 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*865A>T SNV Uncertain significance 302934 rs752870533 GRCh37: 11:119211139-119211139
GRCh38: 11:119340429-119340429
27 C1QTNF5 , MFRP NM_031433.4(MFRP):c.786T>A (p.His262Gln) SNV Uncertain significance 302965 rs751729583 GRCh37: 11:119215454-119215454
GRCh38: 11:119344744-119344744
28 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*61G>T SNV Uncertain significance 302947 rs752071088 GRCh37: 11:119212197-119212197
GRCh38: 11:119341487-119341487
29 C1QTNF5 , MFRP NM_031433.4(MFRP):c.335C>T (p.Thr112Met) SNV Uncertain significance 302973 rs145883448 GRCh37: 11:119216575-119216575
GRCh38: 11:119345865-119345865
30 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-65G>A SNV Uncertain significance 302986 rs883246 GRCh37: 11:119217288-119217288
GRCh38: 11:119346578-119346578
31 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1290G>A SNV Uncertain significance 302927 rs751401877 GRCh37: 11:119210379-119210379
GRCh38: 11:119339669-119339669
32 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*829G>A SNV Uncertain significance 302937 rs886047822 GRCh37: 11:119211429-119211429
GRCh38: 11:119340719-119340719
33 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-108G>A SNV Uncertain significance 302988 rs143241967 GRCh37: 11:119217331-119217331
GRCh38: 11:119346621-119346621
34 C1QTNF5 , MFRP NM_031433.4(MFRP):c.897G>A (p.Ser299=) SNV Uncertain significance 302962 rs150284394 GRCh37: 11:119215343-119215343
GRCh38: 11:119344633-119344633
35 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser) SNV Uncertain significance 302954 rs369531002 GRCh37: 11:119213327-119213327
GRCh38: 11:119342617-119342617
36 C1QTNF5 , MFRP NM_031433.4(MFRP):c.191G>A (p.Arg64His) SNV Uncertain significance 302978 rs149376662 GRCh37: 11:119216836-119216836
GRCh38: 11:119346126-119346126
37 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*198G>C SNV Uncertain significance 302944 rs886047825 GRCh37: 11:119212060-119212060
GRCh38: 11:119341350-119341350
38 C1QTNF5 , MFRP NM_031433.4(MFRP):c.195C>T (p.Phe65=) SNV Uncertain significance 302976 rs138913508 GRCh37: 11:119216832-119216832
GRCh38: 11:119346122-119346122
39 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1024G>A SNV Uncertain significance 302931 rs886047819 GRCh37: 11:119210980-119210980
GRCh38: 11:119340270-119340270
40 C1QTNF5 , MFRP NM_031433.4(MFRP):c.63C>A (p.Phe21Leu) SNV Uncertain significance 302980 rs868687394 GRCh37: 11:119217076-119217076
GRCh38: 11:119346366-119346366
41 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1106C>T (p.Ala369Val) SNV Uncertain significance 302955 rs886047831 GRCh37: 11:119214544-119214544
GRCh38: 11:119343834-119343834
42 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*126G>C SNV Uncertain significance 302946 rs886047827 GRCh37: 11:119212132-119212132
GRCh38: 11:119341422-119341422
43 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1786C>A SNV Uncertain significance 302921 rs886047817 GRCh37: 11:119209883-119209883
GRCh38: 11:119339173-119339173
44 C1QTNF5 , MFRP NM_031433.4(MFRP):c.452C>A (p.Pro151Gln) SNV Uncertain significance 302972 rs200291895 GRCh37: 11:119216319-119216319
GRCh38: 11:119345609-119345609
45 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-9C>T SNV Uncertain significance 198596 rs187321874 GRCh37: 11:119215476-119215476
GRCh38: 11:119344766-119344766
46 C1QTNF5 , MFRP NM_031433.4(MFRP):c.705C>T (p.Phe235=) SNV Uncertain significance 302967 rs34190279 GRCh37: 11:119215651-119215651
GRCh38: 11:119344941-119344941
47 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1506C>T (p.Ser502=) SNV Uncertain significance 302951 rs773497972 GRCh37: 11:119212576-119212576
GRCh38: 11:119341866-119341866
48 C1QTNF5 , MFRP NM_031433.4(MFRP):c.909G>C (p.Gly303=) SNV Uncertain significance 302961 rs777996384 GRCh37: 11:119215091-119215091
GRCh38: 11:119344381-119344381
49 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-57C>T SNV Uncertain significance 302985 rs139821533 GRCh37: 11:119217280-119217280
GRCh38: 11:119346570-119346570
50 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1461C>A (p.Ile487=) SNV Uncertain significance 302953 rs202139926 GRCh37: 11:119212621-119212621
GRCh38: 11:119341911-119341911

Copy number variations for Retinal Degeneration from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 66270 12 27288374 27369795 Insertion STK38L retinal degeneration

Expression for Retinal Degeneration

Search GEO for disease gene expression data for Retinal Degeneration.

Pathways for Retinal Degeneration

GO Terms for Retinal Degeneration

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.73 TULP1 RD3 PRPH2 IQCE CRB1 C1QTNF5
2 cell body GO:0044297 9.33 RPE65 PITPNM2 PITPNM1
3 photoreceptor outer segment GO:0001750 9.26 TULP1 RD3 PRPH2 CRB1
4 photoreceptor inner segment GO:0001917 8.92 TULP1 RD3 PRPH2 CRB1

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.8 TULP1 RPE65 RD3 PRPH2 NRL NR2E3
2 detection of light stimulus involved in visual perception GO:0050908 9.46 TULP1 RPE65 PRPH2 CRB1
3 eye photoreceptor cell development GO:0042462 9.43 TULP1 NR2E3 CRB1
4 retina development in camera-type eye GO:0060041 9.43 TULP1 RPE65 RD3 PRPH2 NR2E3 CRB1
5 photoreceptor cell outer segment organization GO:0035845 9.4 PRPH2 CRB1
6 retina morphogenesis in camera-type eye GO:0060042 9.37 RPE65 CRB1
7 visual perception GO:0007601 9.23 TULP1 RPE65 RD3 PRPH2 NRL NR2E3

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid transporter activity GO:0005548 9.26 PITPNM2 PITPNM1
2 phosphatidylinositol transporter activity GO:0008526 9.16 PITPNM2 PITPNM1
3 phosphatidylcholine transporter activity GO:0008525 8.96 PITPNM2 PITPNM1
4 phosphatidylcholine binding GO:0031210 8.8 RPE65 PITPNM2 PITPNM1

Sources for Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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