Retinitis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: RTN023 MIFTS: 47	Retinitis Categories: Eye diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Retinitis

MalaCards integrated aliases for Retinitis:

Name: Retinitis ¹¹ ⁵³ ⁵ ¹⁴ ⁷¹ ⁷⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of choroid and retina

Chorioretinal inflammation

Chorioretinal inflammation, unspecified

External Ids:

Disease Ontology ¹¹ DOID:3612

MeSH ⁴³ D012173

NCIt ⁴⁹ C115993

SNOMED-CT ⁶⁸ 35426003

ICD10 ³¹ H30.9

UMLS ⁷¹ C0035333

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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...

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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:

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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

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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

Foscarnet

Approved

Phase 4

63585-09-1, 4428-95-9

3415

Phosphonoacetic Acid

Experimental

Phase 4

4408-78-0

546

Antiviral Agents

Phase 4

Reverse Transcriptase Inhibitors

Phase 4

Cidofovir

Approved

Phase 3

113852-37-2

60613

Ganciclovir

Approved, Investigational

Phase 3

82410-32-0

3454

Valganciclovir

Approved, Investigational

Phase 3

175865-60-8

64147

Sargramostim

Approved, Investigational

Phase 3

123774-72-1

Tocopherol

Approved, Investigational

Phase 3

1406-66-2

Acetylcysteine

Approved, Investigational

Phase 3

616-91-1

581 12035

Beta carotene

Approved, Nutraceutical

Phase 2, Phase 3

6811-73-0, 7235-40-7

10256668 5280489

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 3

22737-96-8, 68-26-8

5280382 445354

Lutein

Approved, Investigational, Nutraceutical

Phase 3

127-40-2

5281243

DL-alpha-Tocopherol

Approved, Experimental, Investigational, Nutraceutical, Vet_approved

Phase 3

59-02-9, 10191-41-0

2116 14985

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 3

67-97-0, 1406-16-2

5280795 10883523

Molgramostim

Investigational

Phase 3

99283-10-0

Tocotrienol

Investigational

Phase 3

6829-55-6

9929901

Carotenoids

Phase 2, Phase 3

Immunologic Factors

Phase 3

Retinol palmitate

Phase 3

Ganciclovir triphosphate

Phase 3

Immunoglobulins

Phase 2, Phase 3

Antibodies, Monoclonal

Phase 2, Phase 3

Antibodies

Phase 2, Phase 3

Tocotrienols

Phase 3

Tocopherols

Phase 3

Calciferol

Phase 3

Protective Agents

Phase 3

Expectorants

Phase 3

Antidotes

Phase 3

N-monoacetylcystine

Phase 3

Respiratory System Agents

Phase 3

Antioxidants

Phase 3

Antihypertensive Agents

Phase 3

Isopropyl unoprostone

Phase 3

3777

Dopamine

Approved

Phase 2

62-31-7, 51-61-6

681

Aflibercept

Approved

Phase 2

862111-32-8

124490314

Adapalene

Approved

Phase 1, Phase 2

106685-40-9

60164

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 2

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 2

50-02-2

3003 5743

Carbidopa

Approved

Phase 2

28860-95-9

34359 38101

Levodopa

Approved

Phase 2

59-92-7, 63-84-3

6047

Ciprofloxacin

Approved, Investigational

Phase 2

85721-33-1, 93107-08-5

2764

Fomivirsen

Approved, Investigational, Withdrawn

Phase 2

144245-52-3

Probenecid

Approved, Investigational

Phase 2

57-66-9

4911

Povidone-iodine

Approved

Phase 2

25655-41-8

Iodine

Approved, Investigational

Phase 2

7553-56-2

807

Povidone K30

Approved, Experimental, Withdrawn

Phase 2

9003-39-8

6917 131751496

Nelfinavir

Approved

Phase 2

159989-64-7

64143

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

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Genetic Tests for Retinitis

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Anatomical Context for Retinitis

Organs/tissues related to Retinitis:

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

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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	Burstedt MS...Wachtmeister L	17922155	2008
2	The retinal ciliopathies. ⁵³ ⁶²	Adams NA...Toma HS	17896309	2007
3	Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. ⁵³ ⁶²	Humbert G...Hamel CP	17065479	2006
4	Common and divergent roles for members of the mouse DCX superfamily. ⁵³ ⁶²	Coquelle FM...Reiner O	16628014	2006
5	Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. ⁵³ ⁶²	Cashman SM...Kumar-Singh R	15877050	2005
6	Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. ⁵³ ⁶²	Nakamura M...Miyake Y	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	Demirci FY...Gorin MB	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	Fishman GA...Dryja TP	14718298	2004
9	Antisense oligonucleotides for cancer therapy-an overview. ⁵³ ⁶²	Stahel RA...Zangemeister-Wittke U	12867066	2003
10	Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. ⁵³ ⁶²	Conte I...Banfi S	12634863	2003
11	Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes. ⁵³ ⁶²	Breikers G...DeGrip WJ	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	Gao J...Zuo J	11960024	2002
13	Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). ⁵³ ⁶²	Berson EL...Dryja TP	11527933	2001
14	Antisense therapy in oncology: new hope for an old idea? ⁵³ ⁶²	Tamm I...Hartmann G	11513935	2001
15	Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. ⁵³ ⁶²	Katsanis N...Lupski JR	11453974	2001
16	Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families. ⁵³ ⁶²	Bernal S...Baiget M	11262646	2001
17	Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. ⁵³ ⁶²	Kimberland ML...Kazazian HH	10401005	1999
18	Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. ⁵³ ⁶²	Yamamoto H...Dryja TP	10369264	1999
19	Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. ⁵³ ⁶²	Morimura H...Dryja TP	10102299	1999
20	Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. ⁵³ ⁶²	Souied E...Kaplan J	8554077	1996
21	Inflammation and retinal degenerative diseases. ⁶²	Kaur G...Singh NK	36018156	2023
22	Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant. ⁶²	Matsevich C...Beryozkin A	36420180	2023
23	A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca). ⁶²	Serrano C...Azevedo L	36279952	2023
24	Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations. ⁶²	Abe RY...Sallum JMF	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	Lazaro-Guevara JM...Thebault SC	36341727	2023
26	Optical Coherence Tomography (OCT) Diagnostic of Retinitis Pigmentosa - Case Study. ⁶²	Adilovic M...Cabric A	36467319	2022
27	Fluocinolone acetonide implant (Iluvien®) for macular edema associated with retinitis pigmentosa: A case report. ⁶²	Jomaa E...Korobelnik JF	36474351	2022
28	Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa. ⁶²	Dvaladze A...Vincent A	35916082	2022
29	Effects and Prognosis of Cataract Surgery in Patients with Retinitis Pigmentosa. ⁶²	He H...Jin ZB	36057888	2022
30	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report. ⁶²	Reeves A...Zambrano RM	36069504	2022
31	Genetic Characteristics of Suspected Retinitis Pigmentosa in a Cohort of Chinese Patients. ⁶²	Jin B...Yan M	36464167	2022
32	Efficacy of Ganciclovir in Cytomegalovirus Retinitis via Intravitreal Route in AIDS Patients. ⁶²	Naz U...Rizvi SF	36474382	2022
33	Bendamustine treatment of haematological malignancies: significant risks of opportunistic viral, fungal and bacterial infections. ⁶²	Wu TKY...Kwong YL	35544671	2022
34	Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy. ⁶²	Buckley TMW...MacLaren RE	36393903	2022
35	Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. ⁶²	Lad EM...Foundation Fighting Blindness Consortium Investigator Group	36007554	2022
36	Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults. ⁶²	Corriols-Noval P...Cabanillas Farpon R	36190904	2022
37	Residual rod function in CNGB1 mutant dogs. ⁶²	Petersen-Jones SM...Winkler PA	36107278	2022
38	Overexpression of Rhodopsin or Its Mutants Leads to Energy Metabolism Dysfunction in 661w Cells. ⁶²	Liu Y...Zhu M	36469028	2022
39	Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. ⁶²	Cehajic-Kapetanovic J...MacLaren RE	36445968	2022
40	Stem cells for treating retinal degeneration. ⁶²	Busskamp V	36474335	2022
41	Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations. ⁶²	Poli G...Tuccinardi T	35726567	2022
42	AIRE gene mutation predisposing chronic mucocutaneous candidiasis and pigmented retinitis in two kids from a Chinese family. ⁶²	Ma Y...Li R	35722705	2022
43	CMV retinitis in a kidney transplant recipient. ⁶²	Banjongjit A...Townamchai N	36063290	2022
44	Changes and Treatment Prognosis of Aqueous Humor Cytokine Concentrations of Patients with Acquired Immune Deficiency Syndrome Complicated by Cytomegalovirus Retinitis. ⁶²	Kong W...Wei W	36378859	2022
45	Bilateral papillitis as the initial presentation of neurosyphilis in a patient previously treated for primary and secondary syphilis. ⁶²	Zhou XY...Sobol WM	36393911	2022
46	Death from human cytomegalovirus infection in a girl with congenital thymic dysplasia. ⁶²	Liu Y...Guo Q	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	Gundu R...Shep S	35254625	2022
48	Retinitis after Long-Term Corticosteroid Use. ⁶²	Larsson JR...Emami-Naeini P	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	Dhabarde KA...Kende RP	36475139	2022
50	Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032 T > C. ⁶²	Baranowska E...Kucharczyk R	36434790	2022

Sources

Genes for Retinitis

Genes related to Retinitis (0 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	64.51	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Functions (show sections)
2	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	49.24	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins (show sections)
3	RP9	RP9 Pre-MRNA Splicing Factor	Protein Coding	47.64	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins (show sections)
4	PRPH2	Peripherin 2	Protein Coding	46.91	GeneCards inferred via : Disorders Publications Gene name Summaries Functions (show sections)
5	RP1	RP1 Axonemal Microtubule Associated	Protein Coding	46.82	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	12634863 17896309 11527933
6	RP2	RP2 Activator Of ARL3 GTPase	Protein Coding	44.76	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	10401005
7	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	41.89	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	11262646 15953459 10102299 (more) 15234312 11453974 14718298 17065479 17922155
8	RHO	Rhodopsin	Protein Coding	40.89	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name (show sections)	11960024 12359230 8554077 (more) 15877050
9	EYS	Eyes Shut Homolog	Protein Coding	40.52	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
10	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	40.04	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
11	PRPF3	Pre-MRNA Processing Factor 3	Protein Coding	39.53	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
12	SNRNP200	Small Nuclear Ribonucleoprotein U5 Subunit 200	Protein Coding	39.38	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
13	RP1L1	RP1 Like 1	Protein Coding	38.81	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Proteins (show sections)
14	PDE6A	Phosphodiesterase 6A	Protein Coding	38.7	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
15	CERKL	Ceramide Kinase Like	Protein Coding	36.01	GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
16	FAM161A	FAM161 Centrosomal Protein A	Protein Coding	35.78	GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
17	KLHL7	Kelch Like Family Member 7	Protein Coding	35.42	GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
18	TOPORS	TOP1 Binding Arginine/Serine Rich Protein, E3 Ubiquitin Ligase	Protein Coding	35.38	GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
19	FLVCR1	FLVCR Heme Transporter 1	Protein Coding	35.32	GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
20	ABHD12	Abhydrolase Domain Containing 12, Lysophospholipase	Protein Coding	34.22	GeneCards inferred via : Disorders Publications Summaries Proteins (show sections)
21	SEMA4A	Semaphorin 4A	Protein Coding	34.06	GeneCards inferred via : Disorders Publications Summaries Proteins (show sections)
22	USH2A	Usherin	Protein Coding	32.95	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
23	PRPF31	Pre-MRNA Processing Factor 31	Protein Coding	32.61	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
24	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	32.57	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name (show sections)
25	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	31.98	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
26	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	31.39	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
27	PDE6B	Phosphodiesterase 6B	Protein Coding	31.09	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
28	PRPF8	Pre-MRNA Processing Factor 8	Protein Coding	31.08	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
29	ROM1	Retinal Outer Segment Membrane Protein 1	Protein Coding	30.78	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
30	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	30.54	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
31	NRL	Neural Retina Leucine Zipper	Protein Coding	30.47	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
32	TULP1	TUB Like Protein 1	Protein Coding	30.34	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)

Sources

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

Sources

Expression for Retinitis

Search GEO for disease gene expression data for Retinitis.

Sources

Pathways for Retinitis

Pathways related to Retinitis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Ciliopathies ⁷⁴	11.15	TOPORS RPGRIP1 RP2 RP1L1 RP1 FAM161A
2	Visual Cycle in Retinal Rods ⁶⁴	11.1	RLBP1 RHO PDE6A

Sources

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