MCID: RTN016
MIFTS: 52

Retinal Degeneration

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

MalaCards integrated aliases for Retinal Degeneration:

Name: Retinal Degeneration 11 75 28 53 5 43 14 38 71 75
Degeneration of Retina 11

Classifications:



External Ids:

Disease Ontology 11 DOID:8466
MeSH 43 D012162
NCIt 49 C34979
SNOMED-CT 68 95695004
UMLS 71 C0035304

Summaries for Retinal Degeneration

Disease Ontology: 11 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 peripheral retinal degeneration. An important gene associated with Retinal Degeneration is RPE65 (Retinoid Isomerohydrolase RPE65). 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 nervous system and pigmentation

Wikipedia: 75 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 671)
# Related Disease Score Top Affiliating Genes
1 late-onset retinal degeneration 33.9 USH2A TULP1 RPE65 RHO PRPH2 NR2E3
2 peripheral retinal degeneration 33.6 RPE65 RHO CLN3
3 retinitis pigmentosa 33.3 USH2A TULP1 SOX2-OT SLC6A6 RPE65 RHO
4 macular degeneration, age-related, 1 33.3 USH2A RPE65 RHO PRPH2 NRL NR2E3
5 cone-rod dystrophy 2 33.0 USH2A TULP1 RPE65 RHO RD3 PRPH2
6 enhanced s-cone syndrome 32.9 RPE65 RHO NRL NR2E3 CRB1
7 degeneration of macula and posterior pole 32.8 RPE65 RHO PRPH2 NRL CRB1
8 retinitis 32.7 USH2A TULP1 RPE65 RHO PRPH2 NRL
9 pseudoretinitis pigmentosa 32.7 TULP1 CRB1
10 leber congenital amaurosis 4 32.6 TULP1 RPE65 RD3 PRPH2 CRB1
11 choroideremia 32.5 USH2A RPE65 RHO PRPH2
12 retinal disease 32.4 USH2A RPE65 RHO PRPH2 NRL NR2E3
13 fundus dystrophy 32.4 USH2A TULP1 RPE65 RHO RD3 PRPH2
14 leber plus disease 32.2 USH2A TULP1 RPE65 RHO RD3 PRPH2
15 eye disease 32.0 USH2A TULP1 RPE65 RHO RD3 PRPH2
16 night blindness 32.0 USH2A TULP1 RPE65 RHO PRPH2 NRL
17 pigmented paravenous chorioretinal atrophy 32.0 NR2E3 CRB1
18 stargardt disease 31.9 USH2A TULP1 RPE65 RHO PRPH2 NRL
19 usher syndrome 31.8 USH2A TULP1 RPE65 RHO PRPH2 NRL
20 cone dystrophy 31.7 USH2A TULP1 RPE65 RHO PRPH2 NRL
21 achromatopsia 31.5 USH2A TULP1 RPE65 RHO RD3 PRPH2
22 stargardt disease 1 31.5 TULP1 PRPH2 CRB1 CLN3
23 bardet-biedl syndrome 31.4 USH2A TULP1 RPE65 RHO PRPH2 IQCE
24 scotoma 31.4 USH2A RPE65 RHO PRPH2
25 fundus albipunctatus 31.4 USH2A TULP1 RPE65 RHO PRPH2 NR2E3
26 congenital stationary night blindness 31.4 USH2A TULP1 RPE65 RHO RD3 PRPH2
27 hereditary retinal dystrophy 31.4 USH2A RPE65 RHO PRPH2 CRB1
28 usher syndrome, type iia 31.4 USH2A RD3 CRB1
29 retinoschisis 1, x-linked, juvenile 31.3 USH2A RPE65 RHO PRPH2 NRL NR2E3
30 joubert syndrome 1 31.3 USH2A TULP1 RPE65 RHO RD3 CRB1
31 choroidal dystrophy, central areolar, 1 31.3 USH2A RPE65 PRPH2 NR2E3 CRB1
32 usher syndrome type 2 31.3 USH2A RPE65 RHO PRPH2 NR2E3 CRB1
33 senior-loken syndrome 1 31.3 USH2A TULP1 RPE65 RHO PRPH2 CRB1
34 leber congenital amaurosis 2 31.2 TULP1 RPE65 RHO RD3 CRB1
35 gyrate atrophy of choroid and retina 31.2 USH2A RPE65 RHO PRPH2 NRL
36 macular retinal edema 31.2 USH2A RPE65 RHO NR2E3 CRB1
37 vitelliform macular dystrophy 31.1 USH2A RPE65 RHO PRPH2 NR2E3 CRB1
38 leber congenital amaurosis 1 31.1 TULP1 RPE65 RD3 NRL CRB1
39 retinitis pigmentosa 1 31.1 RHO PRPH2 NRL NR2E3
40 refractive error 31.1 RPE65 RHO CRB1
41 macular dystrophy, dominant cystoid 31.0 USH2A RPE65 RHO NR2E3 CRB1
42 usher syndrome, type i 31.0 USH2A TULP1 RPE65 RHO
43 leber congenital amaurosis 8 31.0 TULP1 RPE65 CRB1
44 nanophthalmos 31.0 TULP1 RPE65 RHO PRPH2 NR2E3 CRB1
45 leber congenital amaurosis 3 31.0 TULP1 RPE65 RD3 CRB1
46 leber congenital amaurosis 10 30.9 USH2A TULP1 RPE65 RHO RD3 CRB1
47 retinitis pigmentosa 7 30.9 RPE65 RHO PRPH2
48 leber congenital amaurosis 12 30.8 RPE65 RD3
49 keratoconus 30.8 TULP1 RPE65 RD3 CRB1
50 leber congenital amaurosis 9 30.7 TULP1 RPE65 CRB1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.83 ATXN7 C1QTNF5 CLN3 CP CRB1 MALAT1
2 pigmentation MP:0001186 9.76 C1QTNF5 CP CRB1 NRL PRPH2 RHO
3 vision/eye MP:0005391 9.55 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 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 5284549
2 Carbonic Anhydrase Inhibitors Phase 4
3 Antihypertensive Agents Phase 4
4
Aflibercept Approved Phase 3 862111-32-8 124490314
5
Ranibizumab Approved Phase 3 347396-82-1
6
Cysteine Approved, Nutraceutical Phase 2, Phase 3 52-90-4 594 5862
7 Angiogenesis Inhibitors Phase 3
8
Coal tar Approved Phase 1, Phase 2 8007-45-2
9
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
10
Metformin Approved Phase 1, Phase 2 1115-70-4, 657-24-9 4091
11
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8, 13614-98-7 54675783 5281021
12
Ethanol Approved Phase 1, Phase 2 64-17-5 702
13
Disulfiram Approved Phase 1, Phase 2 97-77-8 3117
14
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
29
Cannabidiol Approved, Investigational Early Phase 1 13956-29-1 521372 644019
30
Metronidazole Approved 443-48-1, 69198-10-3 4173
31
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
28 A PHASE 1, DOUBLE-MASKED, PLACEBO-CONTROLLED STUDY EVALUATING THE SAFETY, TOLERABILITY, IMMUNOGENICITY, PHARMACOKINETICS AND PHARMACODYNAMICS OF MULTIPLE ESCALATING DOSAGES OF RN6G (PF-04382923) IN SUBJECTS WITH ADVANCED DRY, AGE-RELATED MACULAR DEGENERATION (AMD) INCLUDING GEOGRAPHIC ATROPHY Completed NCT01003691 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 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 28

Anatomical Context for Retinal Degeneration

Organs/tissues related to Retinal Degeneration:

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

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 7427)
# Title Authors PMID Year
1
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. 62 5
31903486 2020
2
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. 62 5
31345061 2019
3
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. 62 5
29232904 2017
4
FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase. 53 62
20356843 2010
5
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 53 62
20061330 2010
6
Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa. 53 62
19952284 2010
7
Deafness and retinal degeneration in a novel USH1C knock-in mouse model. 53 62
20095043 2010
8
The dependence of retinal degeneration caused by the rhodopsin P23H mutation on light exposure and vitamin a deprivation. 53 62
19933196 2010
9
CNTF induces regeneration of cone outer segments in a rat model of retinal degeneration. 53 62
20209167 2010
10
Morphological alterations in retinal neurons in the S334ter-line3 transgenic rat. 53 62
20127257 2010
11
Morphological changes of short-wavelength cones in the developing S334ter-3 transgenic rat. 53 62
20114037 2010
12
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. 53 62
19710705 2010
13
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. 53 62
20238065 2010
14
CREB1/ATF1 activation in photoreceptor degeneration and protection. 53 62
19643965 2009
15
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. 53 62
19756182 2009
16
Light responses in rods of vitamin A-deprived Xenopus. 53 62
19407019 2009
17
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. 53 62
19459154 2009
18
Dual transgenic reporter mice as a tool for monitoring expression of glial fibrillary acidic protein. 53 62
19457099 2009
19
[Gene therapy for inherited retinal dystrophies]. 53 62
19820803 2009
20
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 53 62
19430481 2009
21
Stable retinal gene expression in nonhuman primates via subretinal injection of SIVagm-based lentiviral vectors. 53 62
19257835 2009
22
Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy. 53 62
19094986 2009
23
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 53 62
19074801 2009
24
Effects of pituitary adenylate cyclase activating polypeptide and its fragments on retinal degeneration induced by neonatal monosodium glutamate treatment. 53 62
19456357 2009
25
Accumulation of rhodopsin in late endosomes triggers photoreceptor cell degeneration. 53 62
19214218 2009
26
Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4. 53 62
19153612 2009
27
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. 53 62
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. 53 62
18665195 2009
29
Mutation of a TADR protein leads to rhodopsin and Gq-dependent retinal degeneration in Drosophila. 53 62
19074021 2008
30
Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity. 53 62
18955594 2008
31
Restoration of visual function in retinal degeneration mice by ectopic expression of melanopsin. 53 62
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. 53 62
18265413 2008
33
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. 53 62
18507827 2008
34
Survival and remodeling of melanopsin cells during retinal dystrophy. 53 62
18442436 2008
35
Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. 53 62
17904189 2008
36
Chronic intravitreous infusion of ciliary neurotrophic factor modulates electrical retinal stimulation thresholds in the RCS rat. 53 62
18172115 2008
37
On the role of CNTF as a potential therapy for retinal degeneration: Dr. Jekyll or Mr. Hyde? 53 62
18188927 2008
38
A novel form of transducin-dependent retinal degeneration: accelerated retinal degeneration in the absence of rod transducin. 53 62
18055791 2007
39
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 53 62
17962469 2007
40
Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume. 53 62
17968025 2007
41
Increased expression of glial cell line-derived neurotrophic factor protects against oxidative damage-induced retinal degeneration. 53 62
17935603 2007
42
The rdgB gene of Drosophila: a link between vision and olfaction. 53 62
18161590 2007
43
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 53 62
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. 53 62
17715341 2007
45
Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. 53 62
17699662 2007
46
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. 53 62
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. 53 62
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. 53 62
17109118 2007
49
The role of anti-alpha-enolase autoantibodies in pathogenicity of autoimmune-mediated retinopathy. 53 62
17235687 2007
50
Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function. 53 62
17174953 2007

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

5 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs) DEL Pathogenic
638149 rs773701437 GRCh37: 7:2625907-2625916
GRCh38: 7:2586273-2586282
2 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) SNV Pathogenic
30261 rs387906836 GRCh37: 6:35471540-35471540
GRCh38: 6:35503763-35503763
3 RPE65 NM_000329.3(RPE65):c.1338+1G>A SNV Pathogenic
374139 rs1057518922 GRCh37: 1:68896964-68896964
GRCh38: 1:68431281-68431281
4 USH2A NM_206933.4(USH2A):c.920_923dup (p.His308fs) DUP Pathogenic
48615 rs397518043 GRCh37: 1:216498866-216498867
GRCh38: 1:216325524-216325525
5 SLC6A6 NM_003043.6(SLC6A6):c.1196G>T (p.Gly399Val) SNV Likely Pathogenic
870334 rs1700769766 GRCh37: 3:14513812-14513812
GRCh38: 3:14472304-14472304
6 SLC6A6 NM_003043.6(SLC6A6):c.233C>A (p.Ala78Glu) SNV Likely Pathogenic
870335 rs754954058 GRCh37: 3:14487228-14487228
GRCh38: 3:14445720-14445720
7 YARS1 NM_003680.4(YARS1):c.806T>C (p.Phe269Ser) SNV Likely Pathogenic
996695 rs1653248260 GRCh37: 1:33252555-33252555
GRCh38: 1:32786954-32786954
8 RHO NM_000539.3(RHO):c.284T>C (p.Leu95Pro) SNV Likely Pathogenic
984778 rs2084758666 GRCh37: 3:129247860-129247860
GRCh38: 3:129529017-129529017
9 USH2A NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) SNV Uncertain Significance
429215 rs539192853 GRCh37: 1:215824058-215824058
GRCh38: 1:215650716-215650716
10 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1290G>A SNV Uncertain Significance
302927 rs751401877 GRCh37: 11:119210379-119210379
GRCh38: 11:119339669-119339669
11 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1540T>C SNV Uncertain Significance
302924 rs779732274 GRCh37: 11:119210129-119210129
GRCh38: 11:119339419-119339419
12 C1QTNF5, MFRP NM_031433.4(MFRP):c.195C>T (p.Phe65_Ser66=) SNV Uncertain Significance
302976 rs138913508 GRCh37: 11:119216832-119216832
GRCh38: 11:119346122-119346122
13 C1QTNF5, MFRP NM_031433.4(MFRP):c.705C>T (p.Phe235_Val236=) SNV Uncertain Significance
302967 rs34190279 GRCh37: 11:119215651-119215651
GRCh38: 11:119344941-119344941
14 C1QTNF5, MFRP NM_031433.4(MFRP):c.1506C>T (p.Ser502_Gly503=) SNV Uncertain Significance
302951 rs773497972 GRCh37: 11:119212576-119212576
GRCh38: 11:119341866-119341866
15 C1QTNF5, MFRP NM_031433.4(MFRP):c.909G>C (p.Gly303_Asn304=) SNV Uncertain Significance
302961 rs777996384 GRCh37: 11:119215091-119215091
GRCh38: 11:119344381-119344381
16 C1QTNF5, MFRP NM_031433.4(MFRP):c.-57C>T SNV Uncertain Significance
302985 rs139821533 GRCh37: 11:119217280-119217280
GRCh38: 11:119346570-119346570
17 C1QTNF5, MFRP NM_031433.4(MFRP):c.1461C>A (p.Ile487_Trp488=) SNV Uncertain Significance
302953 rs202139926 GRCh37: 11:119212621-119212621
GRCh38: 11:119341911-119341911
18 C1QTNF5, MFRP NM_031433.4(MFRP):c.271+10C>T SNV Uncertain Significance
302975 rs554865241 GRCh37: 11:119216746-119216746
GRCh38: 11:119346036-119346036
19 C1QTNF5, MFRP NM_031433.4(MFRP):c.773-8A>C SNV Uncertain Significance
302966 rs143891457 GRCh37: 11:119215475-119215475
GRCh38: 11:119344765-119344765
20 C1QTNF5, MFRP NM_031433.4(MFRP):c.-49G>A SNV Uncertain Significance
302984 rs201954533 GRCh37: 11:119217272-119217272
GRCh38: 11:119346562-119346562
21 C1QTNF5, MFRP NM_031433.4(MFRP):c.971A>G (p.Gln324Arg) SNV Uncertain Significance
302958 rs142198552 GRCh37: 11:119215029-119215029
GRCh38: 11:119344319-119344319
22 C1QTNF5, MFRP NM_031433.4(MFRP):c.976-14A>C SNV Uncertain Significance
302956 rs200069261 GRCh37: 11:119214688-119214688
GRCh38: 11:119343978-119343978
23 C1QTNF5, MFRP NM_031433.4(MFRP):c.58G>A (p.Glu20Lys) SNV Uncertain Significance
302981 rs529716845 GRCh37: 11:119217081-119217081
GRCh38: 11:119346371-119346371
24 C1QTNF5, MFRP NM_031433.4(MFRP):c.861C>T (p.Asp287_Gly288=) SNV Uncertain Significance
302963 rs140710522 GRCh37: 11:119215379-119215379
GRCh38: 11:119344669-119344669
25 C1QTNF5, MFRP NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn) SNV Uncertain Significance
302952 rs886047830 GRCh37: 11:119212607-119212607
GRCh38: 11:119341897-119341897
26 C1QTNF5, MFRP NM_031433.4(MFRP):c.192C>G (p.Arg64_Phe65=) SNV Uncertain Significance
302977 rs200143181 GRCh37: 11:119216835-119216835
GRCh38: 11:119346125-119346125
27 C1QTNF5, MFRP NM_031433.4(MFRP):c.505C>T (p.His169Tyr) SNV Uncertain Significance
302969 rs886047834 GRCh37: 11:119216266-119216266
GRCh38: 11:119345556-119345556
28 C1QTNF5, MFRP NM_031433.4(MFRP):c.*652G>A SNV Uncertain Significance
302940 rs886047824 GRCh37: 11:119211606-119211606
GRCh38: 11:119340896-119340896
29 C1QTNF5, MFRP NM_031433.4(MFRP):c.159T>C (p.Gly53_Arg54=) SNV Uncertain Significance
196561 rs372897338 GRCh37: 11:119216868-119216868
GRCh38: 11:119346158-119346158
30 C1QTNF5, MFRP NM_031433.4(MFRP):c.496C>G (p.Pro166Ala) SNV Uncertain Significance
302970 rs145285193 GRCh37: 11:119216275-119216275
GRCh38: 11:119345565-119345565
31 C1QTNF5, MFRP NM_031433.4(MFRP):c.807G>A (p.Gln269_Leu270=) SNV Uncertain Significance
302964 rs371537663 GRCh37: 11:119215433-119215433
GRCh38: 11:119344723-119344723
32 C1QTNF5, MFRP NM_031433.4(MFRP):c.190C>T (p.Arg64Cys) SNV Uncertain Significance
302979 rs147490836 GRCh37: 11:119216837-119216837
GRCh38: 11:119346127-119346127
33 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1879C>T SNV Uncertain Significance
302920 rs886047816 GRCh37: 11:119209790-119209790
GRCh38: 11:119339080-119339080
34 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1311G>A SNV Uncertain Significance
302926 rs368962202 GRCh37: 11:119210358-119210358
GRCh38: 11:119339648-119339648
35 C1QTNF5, MFRP NM_031433.4(MFRP):c.1110+9G>A SNV Uncertain Significance
302930 rs771777653 GRCh37: 11:119210885-119210885
GRCh38: 11:119340175-119340175
36 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1463C>T SNV Uncertain Significance
302925 rs371634525 GRCh37: 11:119210206-119210206
GRCh38: 11:119339496-119339496
37 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1024G>A SNV Uncertain Significance
302931 rs886047819 GRCh37: 11:119210980-119210980
GRCh38: 11:119340270-119340270
38 C1QTNF5, MFRP NM_031433.4(MFRP):c.*1786C>A SNV Uncertain Significance
302921 rs886047817 GRCh37: 11:119209883-119209883
GRCh38: 11:119339173-119339173
39 C1QTNF5, MFRP NM_031433.4(MFRP):c.854-13G>A SNV Uncertain Significance
302935 rs886047821 GRCh37: 11:119211163-119211163
GRCh38: 11:119340453-119340453
40 C1QTNF5, MFRP NM_031433.4(MFRP):c.*732G>T SNV Uncertain Significance
302938 rs886047823 GRCh37: 11:119211526-119211526
GRCh38: 11:119340816-119340816
41 C1QTNF5, MFRP NM_031433.4(MFRP):c.*865A>T SNV Uncertain Significance
302934 rs752870533 GRCh37: 11:119211139-119211139
GRCh38: 11:119340429-119340429
42 C1QTNF5, MFRP NM_031433.4(MFRP):c.*829G>A SNV Uncertain Significance
302937 rs886047822 GRCh37: 11:119211429-119211429
GRCh38: 11:119340719-119340719
43 C1QTNF5, MFRP NM_031433.4(MFRP):c.-108G>A SNV Uncertain Significance
302988 rs143241967 GRCh37: 11:119217331-119217331
GRCh38: 11:119346621-119346621
44 C1QTNF5, MFRP NM_031433.4(MFRP):c.897G>A (p.Ser299_Gly300=) SNV Uncertain Significance
302962 rs150284394 GRCh37: 11:119215343-119215343
GRCh38: 11:119344633-119344633
45 C1QTNF5, MFRP NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser) SNV Uncertain Significance
302954 rs369531002 GRCh37: 11:119213327-119213327
GRCh38: 11:119342617-119342617
46 C1QTNF5, MFRP NM_031433.4(MFRP):c.191G>A (p.Arg64His) SNV Uncertain Significance
302978 rs149376662 GRCh37: 11:119216836-119216836
GRCh38: 11:119346126-119346126
47 C1QTNF5, MFRP NM_031433.4(MFRP):c.*198G>C SNV Uncertain Significance
302944 rs886047825 GRCh37: 11:119212060-119212060
GRCh38: 11:119341350-119341350
48 C1QTNF5, MFRP NM_031433.4(MFRP):c.63C>A (p.Phe21Leu) SNV Uncertain Significance
302980 rs868687394 GRCh37: 11:119217076-119217076
GRCh38: 11:119346366-119346366
49 C1QTNF5, MFRP NM_031433.4(MFRP):c.1106C>T (p.Ala369Val) SNV Uncertain Significance
302955 rs886047831 GRCh37: 11:119214544-119214544
GRCh38: 11:119343834-119343834
50 C1QTNF5, MFRP NM_031433.4(MFRP):c.452C>A (p.Pro151Gln) SNV Uncertain Significance
302972 rs200291895 GRCh37: 11:119216319-119216319
GRCh38: 11:119345609-119345609

Copy number variations for Retinal Degeneration from CNVD:

6
# 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 9.85 USH2A TULP1 RHO RD3 PRPH2 IQCE
2 photoreceptor outer segment GO:0001750 9.65 TULP1 RHO RD3 PRPH2 CRB1
3 cellular anatomical entity GO:0110165 9.62 USH2A PITPNM2 PITPNM1 CLN3
4 rod photoreceptor outer segment GO:0120200 9.56 RHO RD3
5 photoreceptor inner segment GO:0001917 9.4 USH2A TULP1 RHO RD3 PRPH2 CRB1

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.92 USH2A TULP1 RHO CRB1
2 response to stimulus GO:0050896 9.9 NR2E3 NRL PRPH2 RD3 RHO RPE65
3 phototransduction GO:0007602 9.88 RHO PITPNM1 NR2E3
4 detection of light stimulus involved in visual perception GO:0050908 9.86 TULP1 RPE65 PRPH2 CRB1
5 eye photoreceptor cell development GO:0042462 9.85 CRB1 NR2E3 TULP1
6 photoreceptor cell outer segment organization GO:0035845 9.78 PRPH2 CRB1
7 retina development in camera-type eye GO:0060041 9.73 TULP1 RPE65 RHO RD3 PRPH2 NR2E3
8 retina morphogenesis in camera-type eye GO:0060042 9.63 RPE65 CRB1
9 sensory perception of light stimulus GO:0050953 9.61 USH2A RHO
10 visual perception GO:0007601 9.6 USH2A TULP1 RPE65 RHO RD3 PRPH2

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol transfer activity GO:0008526 9.46 PITPNM2 PITPNM1
2 phospholipid transporter activity GO:0005548 9.26 PITPNM2 PITPNM1
3 phosphatidylcholine transporter activity GO:0008525 9.26 PITPNM2 PITPNM1
4 phosphatidylcholine binding GO:0031210 9.1 RPE65 PITPNM2 PITPNM1

Sources for 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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