Aliases & Classifications for Retinitis

MalaCards integrated aliases for Retinitis:

Name: Retinitis 12 54 15 70


External Ids:

Disease Ontology 12 DOID:3612
MeSH 44 D012173
NCIt 50 C115993
SNOMED-CT 67 35426003
ICD10 32 H30.9
UMLS 70 C0035333

Summaries for Retinitis

MalaCards based summary : Retinitis is related to retinitis pigmentosa 73 and retinitis pigmentosa 28. An important gene associated with Retinitis is RPGR (Retinitis Pigmentosa GTPase Regulator), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. The drugs Mannitol and Isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone marrow, and related phenotypes are nervous system and vision/eye

Related Diseases for Retinitis

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

(show top 50) (show all 1080)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 73 32.6 EYS CERKL
2 retinitis pigmentosa 28 32.5 TOPORS RPGR FAM161A
3 retinitis pigmentosa 35 32.5 SEMA4A RPGR
4 retinitis pigmentosa 25 32.5 RPGR PRPH2 PDE6A EYS CERKL
5 usher syndrome, type i 32.4 RPGR RHO IMPDH1 EYS
6 retinitis pigmentosa 20 32.4 RPGR RP9 EYS
7 retinitis pigmentosa 17 32.4 RPGR RP9
8 retinitis pigmentosa 14 32.4 RPGR RP9 CERKL
9 retinitis pigmentosa 6 32.4 RPGR RP9
10 retinitis pigmentosa 19 32.4 RPGR RP9
11 retinitis pigmentosa 10 32.3 RPGR RP9 IMPDH1
12 retinitis pigmentosa 9 32.3 RP9 IMPDH1
13 retinitis pigmentosa 63 32.3 TOPORS SNRNP200
14 retinitis pigmentosa 29 32.2 PDE6A FAM161A EYS CERKL
15 retinitis pigmentosa 3 32.2 RPGRIP1 RPGR RP9 RP2
16 retinitis pigmentosa 4 32.2 SNRNP200 RPGR RP9 RP2 RHO
17 retinitis pigmentosa 34 32.2 RPGRIP1 RPGR
18 retinitis pigmentosa 39 32.2 RPGR PDE6A
19 retinitis pigmentosa 55 32.2 RP1L1 FAM161A
20 retinitis pigmentosa 7 32.2 SNRNP200 RPGR RP9 PRPH2 PDE6A
21 retinitis pigmentosa 33 32.1 SNRNP200 RP9 PRPF3
22 retinitis pigmentosa 51 32.1 TOPORS RP1L1 FAM161A
23 retinitis pigmentosa 62 32.1 TOPORS RP1L1 FAM161A
24 retinitis pigmentosa 13 32.1 SNRNP200 RPGR RP9 PRPF3
25 retinitis pigmentosa 54 32.1 TOPORS RP1L1 FAM161A
26 leber congenital amaurosis 4 32.0 RPGRIP1 PDE6A IMPDH1
27 retinitis pigmentosa 74 32.0 TOPORS RP1L1 FAM161A
28 fundus albipunctatus 32.0 RPGR RLBP1 RHO PRPH2 EYS CERKL
29 retinitis pigmentosa 1 31.9 RP1L1 RP1 RHO PRPH2 PDE6A IMPDH1
30 usher syndrome, type iia 31.9 TOPORS SNRNP200 EYS
31 solar retinopathy 31.8 RLBP1 RHO
32 leber congenital amaurosis 3 31.7 RPGRIP1 IMPDH1
33 newfoundland rod-cone dystrophy 31.7 RLBP1 RHO PRPH2
34 cone-rod dystrophy 6 31.6 RPGRIP1 RPGR PRPH2 PDE6A
35 late-onset retinal degeneration 31.6 RPGR RLBP1 RHO PRPH2
36 retinitis pigmentosa 31 31.3 TOPORS RPGR RP9 RP1L1 PRPF3 FAM161A
37 cone-rod dystrophy 13 31.3 RPGRIP1 RPGR
38 senior-loken syndrome 1 31.3 RPGRIP1 RPGR RHO PRPH2 IMPDH1
39 usher syndrome type 2 31.2 TOPORS RPGR RHO PRPH2 PDE6A EYS
40 scotoma 31.0 RPGR RHO EYS
41 bardet-biedl syndrome 31.0 RPGRIP1 RPGR RHO PRPH2 PDE6A EYS
42 usher syndrome, type iiia 30.9 TOPORS RP9 RLBP1 PRPF3 PDE6A IMPDH1
43 choroideremia 30.8 RPGR RHO PRPH2
44 night blindness 30.7 TOPORS RPGR RP2 RLBP1 RHO PRPH2
45 hereditary retinal dystrophy 30.7 RHO PRPH2 PDE6A EYS
46 stargardt disease 1 30.5 RHO PRPH2 FLVCR1 EYS
47 optic disk drusen 30.4 RPGRIP1 RPGR RHO
48 eye disease 30.4 RPGRIP1 RPGR RP2 RLBP1 RHO PRPH2
49 pattern dystrophy 30.4 RP2 RHO PRPH2
50 pathologic nystagmus 30.3 RPGRIP1 RPGR RHO IMPDH1

Graphical network of the top 20 diseases related to Retinitis:

Diseases related to Retinitis

Symptoms & Phenotypes for Retinitis

MGI Mouse Phenotypes related to Retinitis:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 FAM161A PDE6A PRPH2 RHO RLBP1 RP1
2 vision/eye MP:0005391 9.47 CERKL FAM161A IMPDH1 PDE6A PRPF3 PRPH2
3 pigmentation MP:0001186 9.43 PRPF3 PRPH2 RHO RLBP1 RPGR SEMA4A

Drugs & Therapeutics for Retinitis

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

(show top 50) (show all 465)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
Besifloxacin Approved Phase 4 141388-76-3
Cefazolin Approved Phase 4 25953-19-9 33255 656510
Dipivefrin Approved Phase 4 52365-63-6 3105
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
Povidone-iodine Approved Phase 4 25655-41-8
Adapalene Approved Phase 4 106685-40-9 60164
Benzoyl peroxide Approved Phase 4 94-36-0 7187
Dapsone Approved, Investigational Phase 4 80-08-0 2955
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Benserazide Approved, Investigational Phase 4 322-35-0
Bromfenac Approved Phase 4 91714-94-2 60726
Phenylephrine Approved Phase 4 59-42-7 6041
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
Fluorouracil Approved Phase 4 51-21-8 3385
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
Lomustine Approved, Investigational Phase 4 13010-47-4 3950
Lactitol Approved, Investigational Phase 4 585-86-4 157355
Rasagiline Approved Phase 4 136236-51-6 3052776
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
35 Diuretics, Potassium Sparing Phase 4
36 Sodium Channel Blockers Phase 4
37 Anti-Allergic Agents Phase 4
38 Cephalosporins Phase 4
39 Hypnotics and Sedatives Phase 4
40 Analgesics Phase 4
41 GABA Modulators Phase 4
42 Anesthetics, Intravenous Phase 4
43 Anesthetics, General Phase 4
44 Anti-Anxiety Agents Phase 4
45 Calamus Phase 4
46 Analgesics, Non-Narcotic Phase 4
47 Antirheumatic Agents Phase 4
48 Anti-Inflammatory Agents, Non-Steroidal Phase 4
49 Vitamins Phase 4
50 Trace Elements Phase 4

Interventional clinical trials:

(show top 50) (show all 1294)
# Name Status NCT ID Phase Drugs
1 Evaluation of the "Treat-and-extend" Scheme in Patients With Retinal Vein Occlusion (RVO) With and Without LASER Treatment of Ischaemic Retinal Areas Unknown status NCT02522897 Phase 4 Ranibizumab
2 Retinal Sensitivity in Branch Retinal Vein Occlusion After Anti-VEGF Therapy Unknown status NCT02527733 Phase 4 Ranibizumab;Ranibizumab and laser
3 Effects of Glatiramer Acetate (Copaxone) in the Nerve Fiber Layer Thickness and Retinal Function in Diabetic Patients After Pan- Retinal Photocoagulation (PRP), a Double- Masked Randomized Clinical Trial. Unknown status NCT00677664 Phase 4 Glatiramer acetate (Copaxone);Mannitol
4 Bevacizumab Versus DEX Implant Followed by Bevacizumab in ME Secondary to BRVO Unknown status NCT03892434 Phase 4 Intravitreal bevacizumab and dexamethasone implant Injection
5 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
6 Prospective Trial of Treat and Extend Aflibercept for Macular Edema Secondary to Branch Retinal Vein Occlusion: the PLATON Trial Unknown status NCT03405376 Phase 4 Intravitreal aflibercept injection
7 Prospective Open-label Phase IV Trial to Investigate the Frequency of Optic Disc Swelling, Idiopathic Intracranial Hypertension and Dry Eye Symptoms Under Antiacne Medication Treatment Unknown status NCT02149615 Phase 4
8 Transpupillary Thermotherapy (TTT) Alone Versus the Combined Therapy Consisting of TTT and Intravitreal Injection of Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Unknown status NCT02379000 Phase 4 Triamcinolone Acetonide
9 Phase 4 Study of Intravitreal Aflibercept Injection for Recalcitrant Central Retinal Vein Occlusion Associated Macular Edema Despite Prior Anti-Vascular Endothelial Growth Factor (VEGF) Therapy. (ARChiMEDES) Unknown status NCT01857544 Phase 4 Aflibercept
10 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
11 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
12 Adjunctive Local Application of Lidocaine During Scleral Buckling Under General Anesthesia Unknown status NCT01417572 Phase 4 lidocaine
13 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
14 Randomized, Masked Comparison of Bromfenac and Besifloxacin BID With Either Prednisolone BID or Loteprednol 0.5% BID for Prevention of Retinal Thickening and CME Following Phacoemulsification Unknown status NCT01193504 Phase 4 Pred Forte;Lotemax
15 A Pilot Study to Determine if Intravitreal Injections of Pegaptanib Sodium (Macugen) Given Every 12 Weeks for a Year After an Induction Phase of Three Injections Every 6 Weeks Will Reduce the Progression of Proliferative Diabetic Retinopathy in Patients Without Significant Vitreous Hemorrhage in Comparison to Treatment With Retinal Photocoagulation Alone and After an Induction Phase Unknown status NCT01486771 Phase 4 Macugen ® (pegaptanib sodium)
16 Cefazolin-Lidocaine Solution for Reducing Pain Associated With Subconjunctival Antibiotic Prophylaxis in Vitreo-Retinal Surgery Unknown status NCT02324166 Phase 4 Cefazolin;Lidocaine
17 Combined Treatment of Intravitreous Bevacizumab and Triamcinolone for the Treatment or Macular Edema Secondary to Central Retinal Vein Occlusion Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
18 The Effect of Bevacizumab on Peripheral Retinal Changes as Imaged by Wide -Field Fluorescein Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
19 A Phase IV Open Label Trial of the Safety, Tolerability and Efficacy of 0.5mg Ranibizumab Intravitreal Injections Combined With Wide Field Angiography Guided Panretinal Photocoagulation vs. 0.5mg Ranibizumab Intravitreal Injection Monotherapy in Subjects With Ischemic Central Retinal Vein Occlusion, Hemi Retinal Vein Occlusion, and Branch Retinal Vein Occlusion Who Incompletely Respond to at Least 2 Consecutive Intravitreal Injections in the Past 4 Months. Completed NCT01710839 Phase 4 0.5mg Ranibizumab
20 Peripheral and Macular Retinal Vascular Perfusion and Leakage Dynamics in Diabetic Macular Edema and Retinal Venous Occlusions During Intravitreal Aflibercept Injection (IAI) Treatment for Retinal Edema: PERMEATE Study Completed NCT02503540 Phase 4 Aflibercept
21 Morphological and Functional Retinal Changes Following Retinal Photocoagulation Using a Semiautomated Patterned Scanning Laser System in Proliferative Retinopathy or Macular Edema Secondary to Diabetes Mellitus or Retinal Vein Occlusion Completed NCT00682240 Phase 4
22 Ganciclovir-Cidofovir CMV Retinitis Trial (GCCRT) Completed NCT00000894 Phase 4 Cidofovir;Probenecid;Ganciclovir
23 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
24 Pharmacokinetics of Cidofovir During Continuous Venovenous Hemofiltration Completed NCT01866397 Phase 4
25 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
26 Use of Cidofovir Injection in the Treatment of Recurrent Respiratory Papillomatosis." Completed NCT00205374 Phase 4 Cidofovir;Placebo
27 A Clinical Assessment of the Use of RETIN-A MICRO (Tretinoin Gel) Microsphere, 0.04% in a Pump Dispenser and a 5% Benzoyl Peroxide Wash Used in the Morning Compared to the Use of RETIN-A MICRO 0.04% Pump Nightly and a 5% Benzoyl Peroxide Wash in the Morning For the Treatment of Facial Acne Vulgaris Completed NCT00907257 Phase 4 benzoyl peroxide wash;Tretinoin gel
28 An Investigator-Blind, Phase 4 Study Assessing Mitigation of Facial Irritation When Comparing the Use of Two Acne Treatment Products (Retin-A Micro® 0.1 % Pump and Aczone®) With One Treatment Product (Retin-A Micro® 0.1 % Pump) Using a Split-Face Model Completed NCT01313728 Phase 4 Dapsone plus Tretinoin Gel;Tretinoin Gel
29 Response of Retinal Vessels to Anti Vascular Endothelial Growth Factor (VEGF) Treatment in Patients With Branch Retinal Vein Occlusion (BRVO) Completed NCT01027481 Phase 4 Lucentis
30 An Open-label, Multi-center, 6-month Extension Study Comparing the Long-term Efficacy and Safety of Lucentis (Ranibizumab) Intravitreal Injections Versus Ozurdex (Dexamethasone) Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Branch Retinal Vein Occlusion (BRVO) or Central Retinal Vein Occlusion (CRVO) Who Have Completed the Respective Core Study (CRFB002EDE17 or CRFB002EDE18) Completed NCT01580020 Phase 4 Dexamethasone
31 A Phase IV, Randomised, Single Masked Study Investigating the Efficacy and Safety of Ranibizumab "Inject and Extend" Using an Intensive Retinal Fluid Retreatment Regimen Compared to a Relaxed Retinal Fluid Retreatment Regimen in Patients With Wet Age-related Macular Degeneration (AMD) Completed NCT01972789 Phase 4 Ranibizumab
32 A 12-month, Phase IV, Open-label, Randomized, Active Controlled, 2-arm, Multicenter Study Assessing the Efficacy and Safety of Intravitreal Ranibizumab Combined With Grid&Direct Short Pulse Laser Photocoagulation Versus a PRN Ranibizumab Monotherapy in Japanese Patients With Macular Edema Secondary to Branch Retinal Vein Occlusion (BRVO) Completed NCT02953938 Phase 4
33 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
34 A Prospective Randomized Controlled Multicentre Trial Comparing Half-dose Photodynamic Therapy (PDT) With High-density Subthreshold Micropulse Laser Treatment in Patients With Chronic Central Serous Chorioretinopathy (CSC) Completed NCT01797861 Phase 4
35 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage IV and V Completed NCT00563121 Phase 4
36 A Study to Investigate the Safety and Efficacy of Lucentis (Ranibizumab) in Patients With CNV Due to Causes Other Than AMD and in Patients Where Pigment Epithelial Detachments Are the Primary Manifestation of Their AMD. Completed NCT01628354 Phase 4 Ranibizumab
37 Intravitreal Aflibercept Injection With Panretinal Photocoagulation Versus Early Vitrectomy for Diabetic Vitreous Hemorrhage Completed NCT04153253 Phase 4 Aflibercept Injection [Eylea]
38 Pain Using Reduced Fluence Parameters in Photocoagulation for Diabetic Retinopathy. Completed NCT00802269 Phase 4
39 Open Label Macugen for the Treatment of Macular Edema Secondary to Branch Retinal Vein Occlusion Completed NCT00406107 Phase 4 pegaptanib sodium (Macugen)
40 Evaluation of Visual Acuity Improvement of a PRN Regimen Using Ranibizumab for Macular Edema Due to Ischemic and Non- Ischemic Branch Retinal Vein Occlusion. Completed NCT02478515 Phase 4 Ranibizumab
41 NEWTON: A Single-center Open Label Study Evaluating Intravitreal Aflibercept Injection (IAI) for Previously Treated Macular Edema Associated With Central Retinal Vein Occlusions Completed NCT01870427 Phase 4 Aflibercept (2.0 mg)
42 Twelve Months Experience With a Dexamethasone-implant for the Treatment of Macular Edema Associated With Retinal Vein Occlusion Completed NCT01767545 Phase 4 Dexamethasone implant;Bevacizumab
43 Pilot Study on Efficacy and Tolerance of Intravitreous Injection of Ranibizumab (Lucentis®) in Early-onset Central Retinal Vein Occlusion in Comparison to Hemodilution Using Erythrocytapheresis Completed NCT01448018 Phase 4 ranibizumab
44 Dexmedetomidine Versus Ketorolac/ Midazolam on Perioperative Outcome During Retinal Surgery. Completed NCT03143244 Phase 4 Dexmedetomidine group (D);Ketorolac-Midazolam group (KM);Control group (Normal Saline) (C)
45 Treatment of Diabetic Macular Edema (DME) With Intravitreal Anti-vascular Endothelial Growth Factor (Anti-VEGF) and Prompt Versus Deferred Focal Laser During Long-term Follow-up and Identification of Prognostic Retinal Markers Completed NCT03590444 Phase 4 Ranibizumab 0.5 MG/0.05 ML Intraocular Solution
46 Randomized Trial Comparing Injection Frequency Between Aflibercept and Ranibizumab in Patients With Central Retinal Vein Occlusion With a Treat and Extend Algorithm Completed NCT02274259 Phase 4 Aflibercept;Ranibizumab
47 A Multi-center, Single-arm, Interventional Phase 4 Study to Evaluate a Treat and Extend Regimen of Intravitreal Aflibercept for Treatment of Macular Edema Secondary to Central Retinal Vein Occlusion Completed NCT02800642 Phase 4 Aflibercept (Eylea, BAY86-5321)
48 A 6-Month, Single Site, Masked, Randomized,Controlled Study to Assess Efficacy of Osurdex as Adjunct to Avastin Compared With Avastin Alone in the Treatment of Patients With Macular Edema Due to Central or Branch Retinal Vein Occlusion Completed NCT01085734 Phase 4 Avastin;Osurdex;Avastin
49 Comparison of Dexmedetomidine vs. Propofol in Vitreoretinal Surgery Under Sub-Tenon's Block Completed NCT01001429 Phase 4 Dexmedetomidine infusion;propofol
50 Safety and Efficacy Study of Ozurdex® Compared to Lucentis® in Patients With Branch Retinal Vein Occlusion Completed NCT01427751 Phase 4 dexamethasone intravitreal implant

Search NIH Clinical Center for Retinitis

Genetic Tests for Retinitis

Anatomical Context for Retinitis

MalaCards organs/tissues related to Retinitis:

Eye, Retina, Bone Marrow, Endothelial, Bone, Pituitary, T Cells

Publications for Retinitis

Articles related to Retinitis:

(show top 50) (show all 12539)
# Title Authors PMID Year
Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study. 54 61
17922155 2008
The retinal ciliopathies. 61 54
17896309 2007
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. 61 54
17065479 2006
Common and divergent roles for members of the mouse DCX superfamily. 54 61
16628014 2006
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. 54 61
15877050 2005
Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. 61 54
15953459 2005
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. 61 54
15234312 2004
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. 54 61
14718298 2004
Antisense oligonucleotides for cancer therapy-an overview. 54 61
12867066 2003
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. 61 54
12634863 2003
Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes. 54 61
12359230 2002
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. 54 61
11960024 2002
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). 54 61
11527933 2001
Antisense therapy in oncology: new hope for an old idea? 61 54
11513935 2001
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 61 54
11453974 2001
Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families. 61 54
11262646 2001
Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. 54 61
10401005 1999
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 61 54
10369264 1999
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 54 61
10102299 1999
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 54 61
8554077 1996
Luteolin delays photoreceptor degeneration in a mouse model of retinitis pigmentosa. 61
33642401 2021
Topical delivery of nerve growth factor for treatment of ocular and brain disorders. 61
33510063 2021
Cytomegalovirus retinitis following dexamethasone intravitreal implant. 61
33732951 2021
Multisensory perception in Argus II retinal prosthesis patients: Leveraging auditory-visual mappings to enhance prosthesis outcomes. 61
33607599 2021
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies. 61
33095315 2021
Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis. 61
32527956 2021
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. 61
33463720 2021
Post COVID-19 opportunistic candida retinitis: A case report. 61
33727474 2021
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa. 61
33441055 2021
An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia. 61
32433446 2021
Proteomic analysis of aqueous humor from cataract patients with retinitis pigmentosa. 61
32869287 2021
Intravitreal quantum dots for retinitis pigmentosa: a first-in-human safety study. 61
33739144 2021
Clinical trial design for neuroprotection in RHO autosomal dominant retinitis pigmentosa; outcome measure considerations. 61
33406961 2021
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome. 61
33393400 2021
32796442 2021
Co-delivery of glial cell-derived neurotrophic factor (GDNF) and tauroursodeoxycholic acid (TUDCA) from PLGA microspheres: potential combination therapy for retinal diseases. 61
33641047 2021
Infectious Uveitis after Local Steroid and/or Methotrexate Injections at A Tertiary Referral Center in New Zealand: A Case Series. 61
33792480 2021
Development of cytomegalovirus retinitis after negative conversion of cytomegalovirus antigenemia due to systemic antiviral therapy. 61
33185730 2021
Correction to: Development of cytomegalovirus retinitis after negative conversion of cytomegalovirus antigenemia due to systemic antiviral therapy. 61
33313971 2021
Varicella Zoster Viral Retinitis following Chimeric Antigenic Response T-cell Therapy for B-cell Lymphoma. 61
33797314 2021
OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant. 61
33736480 2021
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy. 61
33476484 2021
Structural aspects of rod opsin and their implication in genetic diseases. 61
33728518 2021
Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb1. 61
33808129 2021
Gene therapy for inherited retinal diseases: progress and possibilities. 61
33689657 2021
Cholesterol synthesis inhibition promotes axonal regeneration in the injured central nervous system. 61
33434618 2021
Glow in the dark: Using a heat-sensitive camera for blind individuals with prosthetic vision. 61
33780753 2021
Comparison of developmental dynamics in human fetal retina and human pluripotent stem cell derived retinal tissue. 61
33677999 2021
Terminal Peptide Extensions Augment the Retinal IMPDH1 Catalytic Activity and Attenuate the ATP-induced Fibrillation Events. 61
33733369 2021
Photoreceptor precursor cell integration into rodent retina after treatment with novel glycopeptide PKX-001. 61
33779072 2021

Variations for Retinitis

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 10.77 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 cell projection GO:0042995 9.97 RPGRIP1 RPGR RP2 RP1L1 RP1 RHO
2 cilium GO:0005929 9.8 RPGRIP1 RPGR RP2 RP1L1 RP1 FAM161A
3 ciliary basal body GO:0036064 9.67 TOPORS RPGR RP2 FAM161A
4 axoneme GO:0005930 9.61 RPGRIP1 RP1L1 RP1
5 photoreceptor inner segment GO:0001917 9.55 RP1 RHO PRPH2 FAM161A CERKL
6 photoreceptor disc membrane GO:0097381 9.46 RHO PDE6A
7 photoreceptor outer segment membrane GO:0042622 9.4 RHO PDE6A
8 photoreceptor connecting cilium GO:0032391 9.35 TOPORS RPGRIP1 RP1L1 RP1 FAM161A
9 photoreceptor outer segment GO:0001750 9.17 RPGR RP1L1 RP1 RHO PRPH2 EYS

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.73 RPGR RP1L1 RP1 FAM161A
2 response to stimulus GO:0050896 9.65 RPGRIP1 RPGR RP1L1 RP1 RLBP1 RHO
3 retina development in camera-type eye GO:0060041 9.63 RPGRIP1 RP1L1 RP1 RHO PRPH2 PDE6A
4 photoreceptor cell maintenance GO:0045494 9.58 RP1L1 RP1 RHO
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.55 RHO PDE6A
6 axoneme assembly GO:0035082 9.54 RP1L1 RP1
7 detection of light stimulus involved in visual perception GO:0050908 9.52 PRPH2 EYS
8 cellular response to light stimulus GO:0071482 9.51 RP1 RHO
9 photoreceptor cell outer segment organization GO:0035845 9.5 TOPORS RP1 PRPH2
10 retinal cone cell development GO:0046549 9.49 TOPORS RP1
11 rhodopsin mediated signaling pathway GO:0016056 9.48 RHO PDE6A
12 phototransduction, visible light GO:0007603 9.46 RP1 RHO
13 retinal rod cell development GO:0046548 9.43 TOPORS RPGRIP1 RP1
14 photoreceptor cell development GO:0042461 9.37 RP1L1 RP1
15 visual perception GO:0007601 9.36 RPGRIP1 RPGR RP2 RP1L1 RP1 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 8.62 RLBP1 RHO

Sources for Retinitis

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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