MCID: RTN023
MIFTS: 47

Retinitis

Categories: Eye diseases, Neuronal diseases
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Aliases & Classifications for Retinitis

MalaCards integrated aliases for Retinitis:

Name: Retinitis 11 53 5 14 71 75

Classifications:



External Ids:

Disease Ontology 11 DOID:3612
MeSH 43 D012173
NCIt 49 C115993
SNOMED-CT 68 35426003
ICD10 31 H30.9
UMLS 71 C0035333

Summaries for Retinitis

MalaCards based summary: Retinitis is related to retinitis pigmentosa 2 and retinitis pigmentosa 7. An important gene associated with Retinitis is RPGR (Retinitis Pigmentosa GTPase Regulator), and among its related pathways/superpathways are Ciliopathies and Visual Cycle in Retinal Rods. The drugs Foscarnet and Phosphonoacetic Acid have been mentioned in the context of this disorder. Affiliated tissues include retina, bone marrow and eye, and related phenotypes are nervous system and pigmentation

Wikipedia: 75 Retinitis is inflammation of the retina in the eye, which can permanently damage the retina and lead to... more...

Related Diseases for Retinitis

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

(show top 50) (show all 1283)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 2 32.8 RPGR RP2 RHO
2 retinitis pigmentosa 7 32.7 RP9 RHO PRPH2
3 retinitis pigmentosa 3 32.6 RPGRIP1 RPGR RP9 RP2
4 retinitis pigmentosa 10 32.6 RP9 IMPDH1
5 retinitis pigmentosa 39 32.6 RPGRIP1 RPGR EYS
6 retinitis pigmentosa 27 32.5 RPGR RP9
7 retinitis pigmentosa 17 32.5 RPGR RP9
8 retinitis pigmentosa 19 32.5 RPGR RP9
9 retinitis pigmentosa 25 32.5 RPGR EYS
10 retinitis pigmentosa 6 32.5 RPGR RP9
11 retinitis pigmentosa 88 32.5 RP1L1 IMPDH1
12 retinitis pigmentosa 13 32.5 SNRNP200 RP2 PRPF3
13 retinitis pigmentosa 9 32.4 RP9 PRPF3 IMPDH1
14 retinitis pigmentosa 28 32.4 RP9 FAM161A
15 retinitis pigmentosa 85 32.4 RPGR PDE6A EYS CERKL
16 retinitis pigmentosa 18 32.4 RP9 PRPF3
17 retinitis pigmentosa 24 32.4 RPGR RP9
18 retinitis pigmentosa 26 32.4 RPGR RHO PDE6A EYS CERKL
19 retinitis pigmentosa 12 32.3 RPGR RP9
20 leber congenital amaurosis 4 32.3 RPGRIP1 PRPH2 PDE6A IMPDH1
21 retinitis pigmentosa 54 32.3 RPGR RP1L1 FAM161A
22 retinitis pigmentosa 63 32.3 PRPF3 IMPDH1
23 retinitis pigmentosa 33 32.2 SNRNP200 RP9 RLBP1 PRPF3
24 leber congenital amaurosis 13 32.1 RPGRIP1 IMPDH1
25 cone-rod dystrophy 16 32.1 RPGR RP1L1 FAM161A CERKL
26 leber congenital amaurosis 3 32.0 RPGRIP1 IMPDH1
27 usher syndrome, type i 32.0 RPGR RHO EYS ABHD12
28 retinitis pigmentosa 1 32.0 RP1L1 RP1 RHO PRPH2 PRPF3 PDE6A
29 macular dystrophy, dominant cystoid 31.9 RPGR RHO PDE6A
30 fundus albipunctatus 31.9 RPGR RLBP1 RHO PRPH2 PDE6A EYS
31 late-onset retinal degeneration 31.9 RPGR RLBP1 RHO PRPH2 PDE6A
32 retinitis pigmentosa 74 31.9 TOPORS RPGR RP1L1 FAM161A
33 solar retinopathy 31.8 RLBP1 RHO CERKL
34 peripheral retinal degeneration 31.8 RPGR RLBP1 RHO CERKL
35 newfoundland rod-cone dystrophy 31.7 RLBP1 PRPH2
36 bietti crystalline corneoretinal dystrophy 31.6 RPGR RLBP1 EYS
37 retinitis pigmentosa 31 31.6 TOPORS RPGR RP9 PRPF3 KLHL7 IMPDH1
38 cone-rod dystrophy 13 31.6 RPGRIP1 RPGR
39 retinal disease 31.6 RPGR RLBP1 RHO PRPH2
40 cone-rod dystrophy 1 31.6 RPGRIP1 RPGR PDE6A
41 usher syndrome type 2 31.3 TOPORS RPGR RHO PRPH2 EYS CERKL
42 cone-rod dystrophy 20 31.2 RP9 RP1L1
43 senior-loken syndrome 1 31.1 RPGRIP1 RPGR RHO PRPH2 IMPDH1 FAM161A
44 progressive cone dystrophy 31.0 RPGR PRPH2
45 bardet-biedl syndrome 30.9 TOPORS RPGRIP1 RPGR RHO PRPH2 PDE6A
46 choroideremia 30.8 RPGR RHO PRPH2 EYS
47 optic disk drusen 30.8 RPGR RHO
48 scotoma 30.8 RPGR RP1L1 RHO PRPH2
49 night blindness 30.7 RPGR RP2 RLBP1 RHO PRPH2 PDE6A
50 leber congenital amaurosis 2 30.6 RPGR RHO

Graphical network of the top 20 diseases related to Retinitis:



Diseases related to Retinitis

Symptoms & Phenotypes for Retinitis

GenomeRNAi Phenotypes related to Retinitis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ABHD12 CERKL EYS FLVCR1 IMPDH1 KLHL7
2 no effect GR00402-S-2 10.15 ABHD12 CERKL EYS FLVCR1 IMPDH1 KLHL7

MGI Mouse Phenotypes related to Retinitis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.73 ABHD12 CERKL FAM161A PDE6A PRPH2 RHO
2 pigmentation MP:0001186 9.63 CERKL PRPF3 PRPH2 RHO RLBP1 RPGR
3 vision/eye MP:0005391 9.47 ABHD12 CERKL FAM161A IMPDH1 PDE6A PRPF3

Drugs & Therapeutics for Retinitis

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

(show top 50) (show all 218)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Foscarnet Approved Phase 4 63585-09-1, 4428-95-9 3415
2
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
3 Antiviral Agents Phase 4
4 Reverse Transcriptase Inhibitors Phase 4
5
Cidofovir Approved Phase 3 113852-37-2 60613
6
Ganciclovir Approved, Investigational Phase 3 82410-32-0 3454
7
Valganciclovir Approved, Investigational Phase 3 175865-60-8 64147
8
Sargramostim Approved, Investigational Phase 3 123774-72-1
9
Tocopherol Approved, Investigational Phase 3 1406-66-2
10
Acetylcysteine Approved, Investigational Phase 3 616-91-1 581 12035
11
Beta carotene Approved, Nutraceutical Phase 2, Phase 3 6811-73-0, 7235-40-7 10256668 5280489
12
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
13
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 5281243
14
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 3 59-02-9, 10191-41-0 2116 14985
15
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
16
Molgramostim Investigational Phase 3 99283-10-0
17
Tocotrienol Investigational Phase 3 6829-55-6 9929901
18 Carotenoids Phase 2, Phase 3
19 Immunologic Factors Phase 3
20 Retinol palmitate Phase 3
21 Ganciclovir triphosphate Phase 3
22 Immunoglobulins Phase 2, Phase 3
23 Antibodies, Monoclonal Phase 2, Phase 3
24 Antibodies Phase 2, Phase 3
25 Tocotrienols Phase 3
26 Tocopherols Phase 3
27 Calciferol Phase 3
28 Protective Agents Phase 3
29 Expectorants Phase 3
30 Antidotes Phase 3
31 N-monoacetylcystine Phase 3
32 Respiratory System Agents Phase 3
33 Antioxidants Phase 3
34 Antihypertensive Agents Phase 3
35
Isopropyl unoprostone Phase 3 3777
36
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
37
Aflibercept Approved Phase 2 862111-32-8 124490314
38
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
39
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3 3680
40
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 3003 5743
41
Carbidopa Approved Phase 2 28860-95-9 34359 38101
42
Levodopa Approved Phase 2 59-92-7, 63-84-3 6047
43
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1, 93107-08-5 2764
44
Fomivirsen Approved, Investigational, Withdrawn Phase 2 144245-52-3
45
Probenecid Approved, Investigational Phase 2 57-66-9 4911
46
Povidone-iodine Approved Phase 2 25655-41-8
47
Iodine Approved, Investigational Phase 2 7553-56-2 807
48
Povidone K30 Approved, Experimental, Withdrawn Phase 2 9003-39-8 6917 131751496
49
Nelfinavir Approved Phase 2 159989-64-7 64143
50
Valproic acid Approved, Investigational Phase 2 99-66-1 3121

Interventional clinical trials:

(show top 50) (show all 273)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetics of Cidofovir During Continuous Venovenous Hemofiltration Completed NCT01866397 Phase 4
2 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
3 Ganciclovir-Cidofovir CMV Retinitis Trial (GCCRT) Completed NCT00000894 Phase 4 Cidofovir;Probenecid;Ganciclovir
4 A Multicenter Study of Oral Versus Intravenous Hydration in AIDS Patients With CMV Retinitis Treated With Foscavir (Foscarnet Sodium) Completed NCT00002125 Phase 4 Foscarnet sodium
5 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Patients With Retinitis Pigmentosa Unknown status NCT01680510 Phase 2, Phase 3
6 Open-Label Safety Study of Valganciclovir in Patients With CMV Retinitis and AIDS Who Have Complications Due to IV Treatment Unknown status NCT00017784 Phase 3 Valganciclovir
7 Cord Blood Platelet-rich Plasma (CB-PRP) in Retinitis Pigmentosa Completed NCT04636853 Phase 3
8 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
9 A Randomized, Controlled Study of Intravenous Ganciclovir Therapy for Peripheral Cytomegalovirus Retinitis in Patients With AIDS Completed NCT00000688 Phase 3 Ganciclovir
10 Phase III Ganciclovir +/- rGM-CSF for AIDS-Related CMV Retinitis Completed NCT00002070 Phase 3 Sargramostim;Ganciclovir
11 A Treatment Protocol for the Use of Intravenous Ganciclovir in AIDS Patients With Immediately Sight-Threatening CMV Retinitis Completed NCT00000698 Phase 3 Ganciclovir
12 Monoclonal Antibody CMV Retinitis Trial (MACRT) Completed NCT00000135 Phase 2, Phase 3 MSL-109
13 Ganciclovir Implant Study for Cytomegalovirus Retinitis Completed NCT00000118 Phase 3
14 Studies of Ocular Complications of AIDS (SOCA)--Ganciclovir-Cidofovir CMV Retinitis Trial (GCCRT) Completed NCT00000143 Phase 3 Cidofovir intravenous
15 Foscarnet-Ganciclovir CMV Retinitis Trial Completed NCT00000136 Phase 3 Foscarnet;Ganciclovir
16 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
17 A Comparison of Valganciclovir and Ganciclovir in the Treatment of Cytomegalovirus (CMV) of the Eyes Completed NCT00002377 Phase 3 Valganciclovir;Ganciclovir
18 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
19 Studies of the Ocular Complications of AIDS (SOCA)--HPMPC Peripheral CMV Retinitis Trial (HPCRT) Completed NCT00000142 Phase 2, Phase 3 Cidofovir
20 Cytomegalovirus Retinitis Retreatment Trial Completed NCT00000134 Phase 3 Ganciclovir;Foscarnet
21 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
22 Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Recruiting NCT04671433 Phase 3
23 Follow-up Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Recruiting NCT04794101 Phase 3
24 The Effect of Wharton Jelly-derived Mesenchymal Stem Cells and Stem Cell Exosomes on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT05413148 Phase 2, Phase 3
25 A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss Active, not recruiting NCT05176717 Phase 2, Phase 3 QR-421a
26 A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene (Sirius) Active, not recruiting NCT05158296 Phase 2, Phase 3 Ultevursen
27 A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects With Choroideremia Previously Treated With Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects With X-Linked Retinitis Pigmentosa Previously Treated With Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study Enrolling by invitation NCT03584165 Phase 3
28 NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa Not yet recruiting NCT05537220 Phase 3 N-acetylcysteine;Placebo
29 A Phase 2/3, Randomized, Controlled, Masked, Multi-center Study to Evaluate the Efficacy, Safety and Tolerability of Two Doses of AGTC-501, a Recombinant Adeno-associated Virus Vector Expressing RPGR (rAAV2tYF-GRK1-RPGR), Compared to an Untreated Control Group in Male Subjects With X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene Not yet recruiting NCT04850118 Phase 2, Phase 3
30 Phase III Clinical Study of UF-021 for Retinitis Pigmentosa - Evaluation for a Comparative Double Masked Placebo Controlled Study Period and a Continuous Administration Period Terminated NCT01786395 Phase 3 UF-021;Placebo
31 Prospective Non-randomised Exploratory Study to Assess the Safety and Efficacy of Aflibercept (Eylea) in Cystoid Macular Oedema (CMO) Associated With Retinitis Pigmentosa (RP) Unknown status NCT02661711 Phase 2 Aflibercept
32 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Unknown status NCT02709876 Phase 1, Phase 2
33 An Open Labeled Clinical Study to Evaluate the Safety and Efficacy OF Autologous Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Retinitis Pigmentosa. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01914913 Phase 1, Phase 2
34 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
35 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Unknown status NCT02837640 Phase 2 levodopa-carbidopa
36 A Dose Escalation (Phase 1), and Dose Expansion (Phase 2/3) Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using an Adeno-Associated Viral Vector (AAV8) Encoding Retinitis Pigmentosa GTPase Regulator (RPGR) Completed NCT03116113 Phase 1, Phase 2
37 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2-.RPGR) for Gene Therapy of Adults and Children With X-linked Retinitis Pigmentosa Owing to Defects in Retinitis Pigmentosa GTPase Regulator (RPGR) Completed NCT03252847 Phase 1, Phase 2
38 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
39 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
40 Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa Completed NCT04315025 Phase 1, Phase 2
41 A Phase 2 Study of the Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT04604899 Phase 2
42 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2 400 µg Brimonidine Tartrate Implant;200 µg Brimonidine Tartrate Implant;100 µg Brimonidine Tartrate Implant
43 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Completed NCT03780257 Phase 1, Phase 2 QR-421a
44 A Prospective, Multicenter, Randomized, Study of the Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT03073733 Phase 2
45 Nerve Growth Factor Eye Drops as a Novel Treatment for Vision Loss in Patients With Retinitis Pigmentosa: From Preclinical to Clinical Phase II Trial Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
46 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Acuity as the Primary Outcome Completed NCT00447993 Phase 2 NT-501
47 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Field Sensitivity as the Primary Outcome Completed NCT00447980 Phase 2 NT-501
48 A Phase II/III Trial of Human Anti-CMV Monoclonal Antibody MSL 109 (MACRT) Completed NCT00000836 Phase 2 Sevirumab
49 A Phase II, Double-Masked, Randomized, Placebo-Controlled Evaluation of Standard Therapy vs. Standard Therapy Combined With Human Monoclonal Anti-Cytomegalovirus Antibody (MSL 109) in the Therapy of AIDS Patients With Cytomegalovirus (CMV) Retinitis Completed NCT00001061 Phase 2 Sevirumab;Foscarnet sodium;Ganciclovir
50 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules

Search NIH Clinical Center for Retinitis

Genetic Tests for Retinitis

Anatomical Context for Retinitis

Organs/tissues related to Retinitis:

MalaCards : Retina, Bone Marrow, Eye, Bone, Brain, T Cells, Kidney

Publications for Retinitis

Articles related to Retinitis:

(show top 50) (show all 13571)
# Title Authors PMID Year
1
Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study. 53 62
17922155 2008
2
The retinal ciliopathies. 53 62
17896309 2007
3
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. 53 62
17065479 2006
4
Common and divergent roles for members of the mouse DCX superfamily. 53 62
16628014 2006
5
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. 53 62
15877050 2005
6
Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. 53 62
15953459 2005
7
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. 53 62
15234312 2004
8
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. 53 62
14718298 2004
9
Antisense oligonucleotides for cancer therapy-an overview. 53 62
12867066 2003
10
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. 53 62
12634863 2003
11
Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes. 53 62
12359230 2002
12
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. 53 62
11960024 2002
13
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). 53 62
11527933 2001
14
Antisense therapy in oncology: new hope for an old idea? 53 62
11513935 2001
15
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 53 62
11453974 2001
16
Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families. 53 62
11262646 2001
17
Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. 53 62
10401005 1999
18
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 53 62
10369264 1999
19
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 53 62
10102299 1999
20
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 53 62
8554077 1996
21
Inflammation and retinal degenerative diseases. 62
36018156 2023
22
Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant. 62
36420180 2023
23
A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca). 62
36279952 2023
24
Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations. 62
35170635 2023
25
Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS). 62
36341727 2023
26
Optical Coherence Tomography (OCT) Diagnostic of Retinitis Pigmentosa - Case Study. 62
36467319 2022
27
Fluocinolone acetonide implant (Iluvien®) for macular edema associated with retinitis pigmentosa: A case report. 62
36474351 2022
28
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa. 62
35916082 2022
29
Effects and Prognosis of Cataract Surgery in Patients with Retinitis Pigmentosa. 62
36057888 2022
30
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report. 62
36069504 2022
31
Genetic Characteristics of Suspected Retinitis Pigmentosa in a Cohort of Chinese Patients. 62
36464167 2022
32
Efficacy of Ganciclovir in Cytomegalovirus Retinitis via Intravitreal Route in AIDS Patients. 62
36474382 2022
33
Bendamustine treatment of haematological malignancies: significant risks of opportunistic viral, fungal and bacterial infections. 62
35544671 2022
34
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy. 62
36393903 2022
35
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. 62
36007554 2022
36
Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults. 62
36190904 2022
37
Residual rod function in CNGB1 mutant dogs. 62
36107278 2022
38
Overexpression of Rhodopsin or Its Mutants Leads to Energy Metabolism Dysfunction in 661w Cells. 62
36469028 2022
39
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. 62
36445968 2022
40
Stem cells for treating retinal degeneration. 62
36474335 2022
41
Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations. 62
35726567 2022
42
AIRE gene mutation predisposing chronic mucocutaneous candidiasis and pigmented retinitis in two kids from a Chinese family. 62
35722705 2022
43
CMV retinitis in a kidney transplant recipient. 62
36063290 2022
44
Changes and Treatment Prognosis of Aqueous Humor Cytokine Concentrations of Patients with Acquired Immune Deficiency Syndrome Complicated by Cytomegalovirus Retinitis. 62
36378859 2022
45
Bilateral papillitis as the initial presentation of neurosyphilis in a patient previously treated for primary and secondary syphilis. 62
36393911 2022
46
Death from human cytomegalovirus infection in a girl with congenital thymic dysplasia. 62
36348432 2022
47
Development and pharmacokinetic evaluation of osmotically controlled drug delivery system of Valganciclovir HCl for potential application in the treatment of CMV retinitis. 62
35254625 2022
48
Retinitis after Long-Term Corticosteroid Use. 62
36344313 2022
49
A Descriptive Analysis of Unique Disability Identification Card (UDID)-Certified Visually Disabled Patients at a Tertiary Eye Care Center in Central India. 62
36475139 2022
50
Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032 T > C. 62
36434790 2022

Variations for Retinitis

ClinVar genetic disease variations for Retinitis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HK1 NM_000188.3(HK1):c.53A>G (p.Gln18Arg) SNV Uncertain Significance
1003936 rs957635575 GRCh37: 10:71078756-71078756
GRCh38: 10:69319000-69319000

Expression for Retinitis

Search GEO for disease gene expression data for Retinitis.

Pathways for Retinitis

Pathways related to Retinitis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.15 TOPORS RPGRIP1 RP2 RP1L1 RP1 FAM161A
2 11.1 RLBP1 RHO PDE6A

GO Terms for Retinitis

Cellular components related to Retinitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 10.02 RPGRIP1 RPGR RP2 RP1L1 RP1 FAM161A
2 ciliary basal body GO:0036064 9.97 TOPORS RPGR RP2 FAM161A
3 photoreceptor inner segment GO:0001917 9.96 RP1 RHO PRPH2 FAM161A CERKL
4 cell projection GO:0042995 9.85 EYS FAM161A PDE6A PRPH2 RHO RP1
5 photoreceptor connecting cilium GO:0032391 9.65 TOPORS RPGRIP1 RP1L1 RP1 FAM161A
6 photoreceptor outer segment GO:0001750 9.5 RPGR RP1L1 RP1 RHO PRPH2 PDE6A

Biological processes related to Retinitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.91 RP1L1 RP1 RHO
2 retina development in camera-type eye GO:0060041 9.9 PDE6A PRPH2 RHO RP1 RPGRIP1 RP1L1
3 photoreceptor cell outer segment organization GO:0035845 9.8 TOPORS RP1 PRPH2
4 response to stimulus GO:0050896 9.8 RPGRIP1 RPGR RP1L1 RP1 RLBP1 RHO
5 retinal cone cell development GO:0046549 9.78 TOPORS RP1
6 phototransduction, visible light GO:0007603 9.76 RP1 RHO
7 retinal rod cell development GO:0046548 9.73 TOPORS RPGRIP1 RP1
8 cell projection organization GO:0030030 9.71 RPGR RP1L1 RP1 FAM161A
9 photoreceptor cell development GO:0042461 9.67 RP1L1 RP1
10 visual perception GO:0007601 9.64 EYS FAM161A PDE6A PRPH2 RHO RLBP1

Molecular functions related to Retinitis according to GeneCards Suite gene sharing:

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

Sources for Retinitis

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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