Late-Onset Retinal Degeneration disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LORD MCID: LTN004 MIFTS: 62	Late-Onset Retinal Degeneration (LORD) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Late-Onset Retinal Degeneration

MalaCards integrated aliases for Late-Onset Retinal Degeneration:

Name: Late-Onset Retinal Degeneration ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁷³ ²⁸ ⁵ ⁴³ ¹⁴ ⁷¹

Lord ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁷³

Retinal Degeneration, Late-Onset, Autosomal Dominant ⁵⁷ ¹⁹ ¹²

Autosomal Dominant Late-Onset Retinal Degeneration ¹¹ ¹⁹ ⁵⁸

Pigmentary Retinopathy ¹⁹ ⁷⁵ ⁵

Retinal Degeneration, Late-Onset ³⁸

Retinitis Pigmentosa ⁷¹

Characteristics:

Inheritance:

Autosomal dominant ⁵⁸ ⁵⁷

Age Of Onset:

Adult,Elderly ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:0060869

OMIM® ⁵⁷ 605670

MeSH ⁴³ C565309

ICD10 via Orphanet ³² H35.5

UMLS via Orphanet ⁷² C1854065

Orphanet ⁵⁸ ORPHA67042

MedGen ⁴⁰ C1854065

UMLS ⁷¹ C0035334 C1854065

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Summaries for Late-Onset Retinal Degeneration

GARD: ¹⁹ Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.

MalaCards based summary: Late-Onset Retinal Degeneration, also known as lord, is related to leber congenital amaurosis 4 and peripheral retinal degeneration. An important gene associated with Late-Onset Retinal Degeneration is C1QTNF5 (C1q And TNF Related 5), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Diseases of the neuronal system. The drugs Tocopherol and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and retina, and related phenotypes are abnormal best corrected visual acuity test and nyctalopia

Orphanet: ⁵⁸ Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.

Disease Ontology: ¹¹ A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material basis in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.

OMIM®: ⁵⁷ Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003). (605670) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy.

Wikipedia: ⁷⁵ Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include... more...

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Related Diseases for Late-Onset Retinal Degeneration

Diseases in the Retinal Degeneration family:

Late-Onset Retinal Degeneration

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

(show top 50) (show all 308)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis 4	32.2	TULP1 RPE65 PRPH2 CRB1
2	peripheral retinal degeneration	31.7	RPGR RPE65 RLBP1 RHO
3	retinal degeneration	31.3	USH2A TULP1 RPGR RPE65 RLBP1 RHO
4	macular degeneration, age-related, 1	31.1	USH2A RPGR RPE65 RLBP1 RHO PRPH2
5	macular retinal edema	30.9	USH2A RPE65 RHO NR2E3 CRB1
6	night blindness	30.8	USH2A TULP1 RPGR RPE65 RLBP1 RHO
7	retinitis	30.6	USH2A TULP1 RPGR RPE65 RLBP1 RHO
8	choroideremia	30.6	USH2A RPGR RPE65 RHO PRPH2
9	retinal disease	30.6	USH2A RPGR RPE65 RLBP1 RHO PRPH2
10	scotoma	30.5	USH2A RPGR RPE65 RHO PRPH2
11	fundus dystrophy	30.5	WHRN USH2A-AS1 USH2A TULP1 RPGR RPE65
12	macular dystrophy, dominant cystoid	30.5	USH2A RPGR RPE65 RHO NR2E3 CRB1
13	progressive cone dystrophy	30.5	RPGR PRPH2
14	choroidal dystrophy, central areolar, 1	30.5	USH2A RPGR RPE65 RLBP1 PRPH2 NR2E3
15	stargardt disease 1	30.5	TULP1 PRPH2 CRB1
16	chorioretinal scar	30.4	RHO CRB1
17	refractive error	30.4	RPGR RPE65 RHO CRB1
18	fundus albipunctatus	30.4	USH2A TULP1 RPGR RPE65 RLBP1 RHO
19	exudative vitreoretinopathy	30.4	USH2A RPGR PRPH2 NR2E3 CRB1
20	cone dystrophy	30.3	USH2A TULP1 RPGR RPE65 RLBP1 RHO
21	senior-loken syndrome 1	30.3	USH2A TULP1 RPGR RPE65 RHO PRPH2
22	retinitis pigmentosa	30.2	WHRN USH2A-AS1 USH2A TULP1 SIGMAR1 SCAPER
23	bardet-biedl syndrome	30.2	USH2A TULP1 SCAPER RPGR RPE65 RHO
24	nanophthalmos	30.2	TULP1 RPGR RPE65 RHO PRPH2 NR2E3
25	achromatopsia	30.1	USH2A TULP1 RPGR RPE65 RHO PRPH2
26	stargardt disease	30.1	USH2A TULP1 RPGR RPE65 RLBP1 RHO
27	usher syndrome type 2	30.1	WHRN USH2A-AS1 USH2A RPGR RPE65 RHO
28	usher syndrome	29.9	WHRN USH2A-AS1 USH2A TULP1 RPGR RPE65
29	leber plus disease	29.9	WHRN USH2A TULP1 RPGR RPE65 RLBP1
30	hardikar syndrome	11.7
31	myopathy, mitochondrial, and ataxia	11.6
32	retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome	11.5
33	kearns-sayre syndrome	11.3
34	mitochondrial trifunctional protein deficiency	11.3
35	neurodegeneration with brain iron accumulation 1	11.2
36	bardet-biedl syndrome 1	11.2
37	cockayne syndrome a	11.2
38	ramon syndrome	11.2
39	developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	11.2
40	oculopharyngodistal myopathy 3	11.2
41	neurodevelopmental disorder with seizures and brain abnormalities	11.2
42	retinitis pigmentosa, deafness, mental retardation, and hypogonadism	11.2
43	retinopathy, pericentral pigmentary, autosomal recessive	11.2
44	retinopathy, pericentral pigmentary, dominant	11.2
45	spinocerebellar ataxia 7	11.2
46	long-chain 3-hydroxyacyl-coa dehydrogenase deficiency	11.1
47	bardet-biedl syndrome 2	11.1
48	bardet-biedl syndrome 10	11.1
49	bardet-biedl syndrome 11	11.1
50	bardet-biedl syndrome 12	11.1

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

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Symptoms & Phenotypes for Late-Onset Retinal Degeneration

Human phenotypes related to Late-Onset Retinal Degeneration:

⁵⁸ ³⁰ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormal best corrected visual acuity test ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0030534
2	nyctalopia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000662
3	visual loss ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000572
4	severely reduced visual acuity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001141
5	choroidal neovascularization ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011506
6	chorioretinal atrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000533
7	drusen ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011510
8	patchy atrophy of the retinal pigment epithelium ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007791
9	multifocal subretinal deposits ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0031530
10	photophobia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000613
11	fundus atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001099
12	macular atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007401
13	iris transillumination defect ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012805
14	iris atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001089
15	tritanomaly ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000552
16	red-green dyschromatopsia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000642
17	peripapillary atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0500087
18	abnormal suspensory ligament of lens morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012628
19	ocular hypertension ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0007906
20	epiretinal membrane ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0100014
21	blindness ³⁰			HP:0000618
22	retinopathy ³⁰			HP:0000488
23	rod-cone dystrophy ³⁰			HP:0000510
24	scotoma ³⁰			HP:0000575
25	macular degeneration ⁵⁸		Frequent (79-30%)
26	retinal degeneration ³⁰			HP:0000546
27	abnormal anterior eye segment morphology ⁵⁸		Occasional (29-5%)
28	adult-onset night blindness ³⁰			HP:0007830
29	sub-rpe deposits ³⁰			HP:0031531

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
night blindness beginning in the 6th decade
vision loss, severe, by the 8th decade
punctate yellow-white sub-retinal pigment epithelium (rpe) lesions
retinopathy may resemble retinitis pigmentosa
abnormal dark-adaptation, midperipheral scotoma
more

Clinical features from OMIM®:

605670 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Late-Onset Retinal Degeneration:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.06	ADGRV1 C1QTNF2 C1QTNF5 CRB1 FAM151A MFRP
2	pigmentation	MP:0001186	10	C1QTNF5 CRB1 FAM151A MFRP PRCD PRPH2
3	cardiovascular system	MP:0005385	9.65	C1QTNF2 C1QTNF5 CRB1 FAM151A PLA2G5 PRPH2
4	vision/eye	MP:0005391	9.5	ADGRV1 C1QTNF5 CRB1 FAM151A MFRP NR2E3

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Drugs & Therapeutics for Late-Onset Retinal Degeneration

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

(show top 50) (show all 110)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

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

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

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 3

22737-96-8, 68-26-8

5280382 445354

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 3

67-97-0, 1406-16-2

5280795 10883523

Tocotrienol

Investigational

Phase 3

6829-55-6

9929901

Carotenoids

Phase 2, Phase 3

Retinol palmitate

Phase 3

Tocotrienols

Phase 3

Tocopherols

Phase 3

Calciferol

Phase 3

Anti-Infective Agents

Phase 3

Antiviral Agents

Phase 3

Expectorants

Phase 3

Antidotes

Phase 3

N-monoacetylcystine

Phase 3

Respiratory System Agents

Phase 3

Antioxidants

Phase 3

Protective Agents

Phase 3

Antihypertensive Agents

Phase 3

Isopropyl unoprostone

Phase 3

3777

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

Dopamine

Approved

Phase 2

62-31-7, 51-61-6

681

Ciprofloxacin

Approved, Investigational

Phase 2

85721-33-1, 93107-08-5

2764

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

Valproic acid

Approved, Investigational

Phase 2

99-66-1

3121

Minocycline

Approved, Investigational

Phase 2

10118-90-8, 13614-98-7

54675783 5281021

Hydroxychloroquine

Approved

Phase 1, Phase 2

118-42-3

3652

Sodium citrate

Approved, Investigational

Phase 2

68-04-2

23431961

Methotrexate

Approved

Phase 2

1959-05-2, 59-05-2

4112 126941

Sildenafil

Approved, Investigational

Phase 2

139755-83-2, 171599-83-0

5212 135398744

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 2

77-92-9

311

Cadexomer iodine

Experimental

Phase 2

94820-09-4

Varespladib methyl

Investigational

Phase 2

172733-08-3

Angiogenesis Inhibitors

Phase 2

Immunologic Factors

Phase 2

Adjuvants, Immunologic

Phase 2

Antineoplastic Agents, Hormonal

Phase 2

Hormones

Phase 2

Hormone Antagonists

Phase 2

Antiemetics

Phase 2

Interventional clinical trials:

(show top 50) (show all 206)

#	Name	Status	NCT ID	Phase	Drugs
1	Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients	Completed	NCT00717080	Phase 4
2	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
3	Cord Blood Platelet-rich Plasma (CB-PRP) in Retinitis Pigmentosa	Completed	NCT04636853	Phase 3
4	Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results	Completed	NCT04224207	Phase 3
5	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa	Completed	NCT00000114	Phase 3	Vitamin E;Vitamin A
6	Randomized Clinical Trial for Retinitis Pigmentosa	Completed	NCT00346333	Phase 3	Lutein
7	Randomized Trial for Retinitis Pigmentosa	Completed	NCT00000116	Phase 3	Vitamin A;Nutritional Supplement
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa	Unknown status	NCT02709876	Phase 1, Phase 2
19	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
20	Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema	Unknown status	NCT02804360	Phase 2
21	The Effect of L-Dopa on the Progression of Retinitis Pigmentosa	Unknown status	NCT02837640	Phase 2	levodopa-carbidopa
22	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
23	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
24	Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa	Completed	NCT02140164	Phase 1, Phase 2	Minocycline
25	Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa	Completed	NCT04315025	Phase 1, Phase 2
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	Effects of Lutein in Retinitis Pigmentosa	Completed	NCT00029289	Phase 1, Phase 2	Lutein (10 or 30 mg/day) capsules
34	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
35	Safety Study in Retinal Transplantation for Retinitis Pigmentosa.	Completed	NCT00345917	Phase 2
36	Investigation of Effectiveness and Safety of High Dose Docosahexaenoic Acid (DHA) in X-Linked Retinitis Pigmentosa	Completed	NCT00100230	Phase 2	docosahexaenoic acid OR corn/soy oil placebo
37	A Prospective, Multicenter, Open-Label, Single-Arm Study of the Safety and Tolerability of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP)	Completed	NCT02320812	Phase 1, Phase 2
38	A Phase II Multiple Site, Randomized, Placebo-Controlled Trial of Oral Valproic Acid for Autosomal Dominant Retinitis Pigmentosa	Completed	NCT01233609	Phase 2	Valproic Acid;Placebo
39	Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa	Completed	NCT01560715	Phase 2
40	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa	Completed	NCT01399515	Phase 2	Valproic Acid
41	Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density	Completed	NCT01530659	Phase 2	NT-501
42	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
43	Open-label, Multiple Dose, Dose Escalation Study to Evaluate the Safety/Tolerability and Efficacy of EA-2353 in Subjects With Retinitis Pigmentosa	Recruiting	NCT05392751	Phase 1, Phase 2	EA-2353
44	Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome	Recruiting	NCT04355689	Phase 1, Phase 2	NPI-001
45	Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein)	Recruiting	NCT04120883	Phase 1, Phase 2	Hydroxychloroquine lower dose;Hydroxychloroquine higher dose
46	Phase 1/2, Safety and Efficacy Trial of BS01, a Recombinant Adeno-Associated Virus Vector Expressing ChronosFP in Patients With Retinitis Pigmentosa	Recruiting	NCT04278131	Phase 1, Phase 2	BS01
47	A Phase 1/2 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) and a Phase 2 Randomized, Controlled, Masked, Multi-center Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene	Recruiting	NCT03316560	Phase 1, Phase 2
48	Investigation of Therapeutic Efficacy and Safety of Umbilical Cord Derived Mesenchymal Stem Cells (UMSCs) for the Management of Retinitis Pigmentosa (RP)	Recruiting	NCT04763369	Phase 2
49	A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa	Recruiting	NCT03326336	Phase 1, Phase 2
50	Phase 1/2 Study to Assess the Safety and Efficacy of Ocu400 for Retinitis Pigmentosa Associated With Nr2e3 and Rho Mutations and Leber Congenital Amaurosis With Mutation(S) in Cep290 Gene	Recruiting	NCT05203939	Phase 1, Phase 2	OCU400 Low Dose;OCU400 Mid Dose;OCU400 High Dose

Search NIH Clinical Center for Late-Onset Retinal Degeneration

Cochrane evidence based reviews: late-onset retinal degeneration

Sources

Genetic Tests for Late-Onset Retinal Degeneration

Genetic tests related to Late-Onset Retinal Degeneration:

#	Genetic test	Affiliating Genes
1	Late-Onset Retinal Degeneration ²⁸	C1QTNF5

Sources

Anatomical Context for Late-Onset Retinal Degeneration

Organs/tissues related to Late-Onset Retinal Degeneration:

MalaCards : Eye, Bone Marrow, Retina, Bone, Brain, Kidney, Heart

Sources

Publications for Late-Onset Retinal Degeneration

Articles related to Late-Onset Retinal Degeneration:

(show top 50) (show all 2043)

#	Title	Authors	PMID	Year
1	Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. ⁶² ⁵⁷ ⁵	Hayward C...Wright AF	12944416	2003
2	Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. ⁶² ⁵	De Zaeytijd J...Leroy BP	33949280	2021
3	Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. ⁶² ⁵	Stanton CM...Hayward C	28939808	2017
4	Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. ⁶² ⁵⁷	Milam AH...Jacobson SG	11097607	2000
5	Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. ⁶² ⁵⁷	Kuntz CA...Milam AH	8759344	1996
6	SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. ⁵	Wormser O...Birk OS	30723319	2019
7	Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series. ⁶²	Aleman TS...Bedoukian EC	36469661	2022
8	"From the Time You Start With them Until the Lord Calls You": A Qualitative Study on the Experiences and Expectations of People Living with Advanced Cancer Interacting With Palliative Care Services in Uganda, Nigeria and Zimbabwe. ⁶²	Namukwaya E...Allsop MJ	36089175	2022
9	Favipiravir in early symptomatic COVID-19, a randomised placebo-controlled trial. ⁶²	McMahon JH...Peleg AY	36284645	2022
10	Goals, usefulness and abstraction in value-based choice. ⁶²	De Martino B...Cortese A	36446707	2022
11	The Surgical Operation that Led to the Declaration of Independence and the Bill of Rights. ⁶²	Nakayama DK	35506199	2022
12	Molecular phylogenetics reveals the evolutionary history of marine fishes (Actinopterygii) endemic to the subtropical islands of the Southwest Pacific. ⁶²	Samayoa AP...Liggins L	35843570	2022
13	THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. ⁶²	Papastavrou VT...Browning AC	33055555	2022
14	Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders. ⁶²	Lorenzana-Blanco N...Carreno E	36380535	2022
15	Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion. ⁶²	Grigalioniene K...Utkus A	36181358	2022
16	Distinct Phenotypic Consequences of Pathogenic C1q-Tumor Necrosis Factor-5 Mutants Associated with Late-Onset Retinal Degeneration. ⁶²	Xu L...Dinculescu A	36328299	2022
17	Modeling fast acoustic streaming: Steady-state and transient flow solutions. ⁶²	Orosco J...Friend J	36397528	2022
18	The scientific reputation(s) of John Lubbock, Darwinian gentleman. ⁶²	Barton R	36088862	2022
19	Inferring meaningful change in quality of life with posterior predictive distribution: an alternative to standard error of measurement. ⁶²	Li Y	36083421	2022
20	Comparison of raw and regression approaches to capturing change on patient-reported outcome measures. ⁶²	Andrae DA...Peipert JD	36136261	2022
21	Refined Lord-Shulman Theory for 1D Response of Skin Tissue under Ramp-Type Heat. ⁶²	Sobhy M...Zenkour AM	36143604	2022
22	MELAS syndrome with rare manifestations misdiagnosed as vasculitis in the absence of lactic acidosis: A case report. ⁶²	Alsultan M...Hassan Q	36147056	2022
23	Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. ⁶²	Majander A...Turunen JA	36128853	2022
24	Visual neuroprosthesis: present and future perspectives. ⁶²	Lestak J...Hana K	35713333	2022
25	Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene. ⁶²	Batu Oto B...Yetik H	35930384	2022
26	Role of Chk1 gene in molecular classification and prognosis of gastric cancer using immunohistochemistry and LORD-Q assay. ⁶²	Saeed N...Kayani MA	35762179	2022
27	First description of males of Ensiferothrips wallacei Mound amp; Tree (Thripidae: Dendrothripinae) with variation in fore wing setae. ⁶²	Li S...Wang Z	36095388	2022
28	Linking Hip Disability and Osteoarthritis Outcome Score-Physical Function Short Form and PROMIS Physical Function. ⁶²	Heng M...Cella D	35476824	2022
29	MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features. ⁶²	Pillai NR...Aggarwal A	35385210	2022
30	Cognition in Trinucleotide Repeat Spinocerebellar Ataxias: A Review. ⁶²	Agarwal A...Srivastava AK	36211141	2022
31	OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1. ⁶²	Yilmaz Cebi A...Hepokur M	35876331	2022
32	Comparison of clinical and biometric characteristics between nanophthalmic children and age-matched controls. ⁶²	Rajendrababu S...Uduman MS	35791127	2022
33	Potpourri of retinopathies in rare eye disease - A case series. ⁶²	Pawar N...Narendran V	35791168	2022
34	CircNCX1: the "Lord of the Ring" in the Heart - Insight into Its Sequence Characteristic, Expression, Molecular Mechanisms, and Clinical Application. ⁶²	Ding L...Wang J	34642871	2022
35	Specific ablation of Hippo signalling component Yap1 in retinal progenitors and Müller cells results in late onset retinal degeneration. ⁶²	Yang Y...Zhou B	35533255	2022
36	Correction to: CircNCX1: the "Lord of the Ring" in the Heart - Insight into Its Sequence Characteristic, Expression, Molecular Mechanisms, and Clinical Application. ⁶²	Ding L...Wang J	34807368	2022
37	Implementation of Baltimore City's COVID-19 Isolation Hotel. ⁶²	Rosecrans AM...Dzirasa LK	35446607	2022
38	Acoustic scattering by a small obstacle in the time domain. ⁶²	Martin PA	35649893	2022
39	Linking the RCADS-25 to the PROMIS® pediatric item banks Anxiety and Depressive Symptoms in a general Dutch population sample. ⁶²	Klaufus L...Schalet B	35023000	2022
40	Analysis of Thermoelastic Interaction in a Polymeric Orthotropic Medium Using the Finite Element Method. ⁶²	Abbas I...Marin M	35631995	2022
41	Single-cell-resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity. ⁶²	Ortolan D...Bharti K	35522714	2022
42	Medicine and Pharmacy in the works of Dante Alighieri (1265-1321). ⁶²	Sandor V...Dumitrascu DL	35721038	2022
43	Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches. ⁶²	Marouf A...Alagramam KN	35320418	2022
44	Is conservative management of ductal carcinoma in situ risky? ⁶²	Zheng L...Badve SS	35484283	2022
45	A few session moments. ⁶²	Eigen M	35165368	2022
46	Linking the KOOS-PS to PROMIS Physical Function in Knee Patients Evaluated for Surgery. ⁶²	Tang X...Cella D	35171872	2022
47	How do the physiological traits of a lizard change during its invasion of an oceanic island? ⁶²	Young A...Chapple DG	34725729	2022
48	PERIPAPILLARY MITOCHONDRIAL RETINOPATHY SECONDARY TO A NOVEL MITOCHONDRIAL DNA MUTATION. ⁶²	Akyol E...Lotery A	31479010	2022
49	Brief Report: Examining Test-Retest Reliability of the Autism Diagnostic Observation Schedule (ADOS-2) Calibrated Severity Scores (CSS). ⁶²	Janvier D...Kim SH	33826039	2022
50	Long-term retinal imaging of a case of suspected congenital rubella infection. ⁶²	Langlo CS...Connor TB	34977425	2022

Sources

Genes for Late-Onset Retinal Degeneration

Genes related to Late-Onset Retinal Degeneration (7 elite genes):

(show top 50) (show all 56)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	C1QTNF5	C1q And TNF Related 5	Protein Coding	1703.38	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	33949280 28939808 12944416
2	MFRP	Membrane Frizzled-Related Protein	Protein Coding	432.28	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	33949280 28939808 12944416
3	USH2A	Usherin	Protein Coding	405.55	Pathogenic ⁵ DISEASES inferred ¹⁴
4	TULP1	TUB Like Protein 1	Protein Coding	403.37	Pathogenic ⁵ DISEASES inferred ¹⁴
5	PLA2G5	Phospholipase A2 Group V	Protein Coding	400	Pathogenic ⁵
6	SCAPER	S-Phase Cyclin A Associated Protein In The ER	Protein Coding	400	Pathogenic ⁵	30723319
7	USH2A-AS1	USH2A Antisense RNA 1	RNA Gene	400	Pathogenic ⁵
8	PRPH2	Peripherin 2	Protein Coding	30.69	Likely pathogenic ⁵ DISEASES inferred ¹⁴
9	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6.22	DISEASES inferred ¹⁴
10	C1QTNF2	C1q And TNF Related 2	Protein Coding	6.14	DISEASES inferred ¹⁴
11	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.01	DISEASES inferred ¹⁴
12	WHRN	Whirlin	Protein Coding	5.85	DISEASES inferred ¹⁴
13	FAM151A	Family With Sequence Similarity 151 Member A	Protein Coding	5.78	DISEASES inferred ¹⁴
14	RHO	Rhodopsin	Protein Coding	5.77	DISEASES inferred ¹⁴
15	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	5.7	DISEASES inferred ¹⁴
16	PRCD	Photoreceptor Disc Component	Protein Coding	5.62	DISEASES inferred ¹⁴
17	SIGMAR1	Sigma Non-Opioid Intracellular Receptor 1	Protein Coding	5.54	DISEASES inferred ¹⁴
18	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	5.5	DISEASES inferred ¹⁴
19	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	5.5	DISEASES inferred ¹⁴
20	ADGRV1	Adhesion G Protein-Coupled Receptor V1	Protein Coding	5.4	DISEASES inferred ¹⁴
21	RTBDN	Retbindin	Protein Coding	5.38	DISEASES inferred ¹⁴
22	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	5.38	DISEASES inferred ¹⁴
23	C1QTNF9	C1q And TNF Related 9	Protein Coding	5.36	DISEASES inferred ¹⁴
24	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	5.34	DISEASES inferred ¹⁴
25	ELOVL4	ELOVL Fatty Acid Elongase 4	Protein Coding	5.31	DISEASES inferred ¹⁴
26	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	5.28	DISEASES inferred ¹⁴
27	CEP290	Centrosomal Protein 290	Protein Coding	5.27	DISEASES inferred ¹⁴
28	BEST1	Bestrophin 1	Protein Coding	5.25	DISEASES inferred ¹⁴
29	PRPF31	Pre-MRNA Processing Factor 31	Protein Coding	5.21	DISEASES inferred ¹⁴
30	CRX	Cone-Rod Homeobox	Protein Coding	5.08	DISEASES inferred ¹⁴
31	CFH	Complement Factor H	Protein Coding	4.93	DISEASES inferred ¹⁴
32	VSX2	Visual System Homeobox 2	Protein Coding	4.91	DISEASES inferred ¹⁴
33	EFEMP1	EGF Containing Fibulin Extracellular Matrix Protein 1	Protein Coding	4.89	DISEASES inferred ¹⁴
34	MPP3	MAGUK P55 Scaffold Protein 3	Protein Coding	4.88	DISEASES inferred ¹⁴
35	PALS1	Protein Associated With LIN7 1, MAGUK P55 Family Member	Protein Coding	4.88	DISEASES inferred ¹⁴
36	C1QTNF6	C1q And TNF Related 6	Protein Coding	4.76	DISEASES inferred ¹⁴
37	PCDHGA12	Protocadherin Gamma Subfamily A, 12	Protein Coding	4.73	DISEASES inferred ¹⁴
38	C1QTNF1	C1q And TNF Related 1	Protein Coding	4.72	DISEASES inferred ¹⁴
39	USH1C	USH1 Protein Network Component Harmonin	Protein Coding	4.7	DISEASES inferred ¹⁴
40	CLDN19	Claudin 19	Protein Coding	4.68	DISEASES inferred ¹⁴
41	TMEFF1	Transmembrane Protein With EGF Like And Two Follistatin Like Domains 1	Protein Coding	4.66	DISEASES inferred ¹⁴
42	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	4.66	DISEASES inferred ¹⁴
43	PDE6B	Phosphodiesterase 6B	Protein Coding	4.66	DISEASES inferred ¹⁴
44	TRIM13	Tripartite Motif Containing 13	Protein Coding	4.66	DISEASES inferred ¹⁴
45	ROM1	Retinal Outer Segment Membrane Protein 1	Protein Coding	4.64	DISEASES inferred ¹⁴
46	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	4.63	DISEASES inferred ¹⁴
47	FAM98C	Family With Sequence Similarity 98 Member C	Protein Coding	4.62	DISEASES inferred ¹⁴
48	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	4.61	DISEASES inferred ¹⁴
49	RNF222	Ring Finger Protein 222	Protein Coding	4.59	DISEASES inferred ¹⁴
50	SLC4A3	Solute Carrier Family 4 Member 3	Protein Coding	4.58	DISEASES inferred ¹⁴

Sources

Variations for Late-Onset Retinal Degeneration

ClinVar genetic disease variations for Late-Onset Retinal Degeneration:

⁵ (show top 50) (show all 102)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PLA2G5	NM_000929.3(PLA2G5):c.280dup (p.Val94fs)	DUP	Pathogenic	812376	rs1569848362	GRCh37: 1:20416375-20416376 GRCh38: 1:20089882-20089883
2	C1QTNF5, MFRP	NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr)	SNV	Pathogenic	1687105		GRCh37: 11:119210211-119210211 GRCh38: 11:119339501-119339501
3	SCAPER	NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)	DEL	Pathogenic	548448	rs1567499068	GRCh37: 15:76866531-76866531 GRCh38: 15:76574190-76574190
4	USH2A-AS1, USH2A	NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)	SNV	Pathogenic	1708278		GRCh37: 1:216373050-216373050 GRCh38: 1:216199708-216199708
5	TULP1	NM_003322.6(TULP1):c.162dup (p.Thr55fs)	DUP	Pathogenic	1708378		GRCh37: 6:35479984-35479985 GRCh38: 6:35512207-35512208
6	USH2A	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	SNV	Pathogenic	2358	rs111033272	GRCh37: 1:216498841-216498841 GRCh38: 1:216325499-216325499
7	C1QTNF5, MFRP	NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	SNV	Likely Pathogenic	2126	rs111033578	GRCh37: 11:119210284-119210284 GRCh38: 11:119339574-119339574
8	PRPH2	NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	SNV	Likely Pathogenic	98671	rs61755787	GRCh37: 6:42689604-42689604 GRCh38: 6:42721866-42721866
9	C1QTNF5, MFRP	NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala)	SNV	Likely Pathogenic	813996	rs1591299252	GRCh37: 11:119210211-119210211 GRCh38: 11:119339501-119339501
10	C1QTNF5, MFRP	NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn)	SNV	Uncertain Significance	813997	rs1591299258	GRCh37: 11:119210212-119210212 GRCh38: 11:119339502-119339502
11	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1629T>C	SNV	Uncertain Significance	877700	rs142208418	GRCh37: 11:119210040-119210040 GRCh38: 11:119339330-119339330
12	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*865A>T	SNV	Uncertain Significance	302934	rs752870533	GRCh37: 11:119211139-119211139 GRCh38: 11:119340429-119340429
13	C1QTNF5, MFRP	NM_031433.4(MFRP):c.854-13G>A	SNV	Uncertain Significance	302935	rs886047821	GRCh37: 11:119211163-119211163 GRCh38: 11:119340453-119340453
14	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*849G>A	SNV	Uncertain Significance	878771	rs185696769	GRCh37: 11:119211409-119211409 GRCh38: 11:119340699-119340699
15	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*829G>A	SNV	Uncertain Significance	302937	rs886047822	GRCh37: 11:119211429-119211429 GRCh38: 11:119340719-119340719
16	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*732G>T	SNV	Uncertain Significance	302938	rs886047823	GRCh37: 11:119211526-119211526 GRCh38: 11:119340816-119340816
17	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1879C>T	SNV	Uncertain Significance	302920	rs886047816	GRCh37: 11:119209790-119209790 GRCh38: 11:119339080-119339080
18	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1864C>T	SNV	Uncertain Significance	879281	rs1356420825	GRCh37: 11:119209805-119209805 GRCh38: 11:119339095-119339095
19	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1839C>A	SNV	Uncertain Significance	879282	rs1950469140	GRCh37: 11:119209830-119209830 GRCh38: 11:119339120-119339120
20	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1140C>A	SNV	Uncertain Significance	302929	rs886047818	GRCh37: 11:119210529-119210529 GRCh38: 11:119339819-119339819
21	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1132A>G	SNV	Uncertain Significance	879321	rs746399664	GRCh37: 11:119210537-119210537 GRCh38: 11:119339827-119339827
22	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1786C>A	SNV	Uncertain Significance	302921	rs886047817	GRCh37: 11:119209883-119209883 GRCh38: 11:119339173-119339173
23	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1540T>C	SNV	Uncertain Significance	302924	rs779732274	GRCh37: 11:119210129-119210129 GRCh38: 11:119339419-119339419
24	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1463C>T	SNV	Uncertain Significance	302925	rs371634525	GRCh37: 11:119210206-119210206 GRCh38: 11:119339496-119339496
25	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1311G>A	SNV	Uncertain Significance	302926	rs368962202	GRCh37: 11:119210358-119210358 GRCh38: 11:119339648-119339648
26	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1290G>A	SNV	Uncertain Significance	302927	rs751401877	GRCh37: 11:119210379-119210379 GRCh38: 11:119339669-119339669
27	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1250G>A	SNV	Uncertain Significance	878728	rs779390261	GRCh37: 11:119210419-119210419 GRCh38: 11:119339709-119339709
28	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*895C>T	SNV	Uncertain Significance	302933	rs751853220	GRCh37: 11:119211109-119211109 GRCh38: 11:119340399-119340399
29	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1973G>T	SNV	Uncertain Significance	302919	rs551431328	GRCh37: 11:119209696-119209696 GRCh38: 11:119338986-119338986
30	PHF3, EYS	NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	SNV	Uncertain Significance	523415	rs1554163965	GRCh37: 6:64431408-64431408 GRCh38: 6:63721512-63721512
31	TOPORS	NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala)	SNV	Uncertain Significance	523486	rs146483990	GRCh37: 9:32543144-32543144 GRCh38: 9:32543146-32543146
32	TOPORS	NM_005802.5(TOPORS):c.2666A>G (p.His889Arg)	SNV	Uncertain Significance	523487	rs762457246	GRCh37: 9:32541857-32541857 GRCh38: 9:32541859-32541859
33	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1108C>A	SNV	Uncertain Significance	880509	rs554735772	GRCh37: 11:119210896-119210896 GRCh38: 11:119340186-119340186
34	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1024G>A	SNV	Uncertain Significance	302931	rs886047819	GRCh37: 11:119210980-119210980 GRCh38: 11:119340270-119340270
35	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*951C>G	SNV	Uncertain Significance	302932	rs886047820	GRCh37: 11:119211053-119211053 GRCh38: 11:119340343-119340343
36	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1289C>A	SNV	Uncertain Significance	852164	rs146971652	GRCh37: 11:119210380-119210380 GRCh38: 11:119339670-119339670
37	C1QTNF5, MFRP	NM_031433.4(MFRP):c.583G>A (p.Ala195Thr)	SNV	Uncertain Significance	302968	rs886047833	GRCh37: 11:119216188-119216188 GRCh38: 11:119345478-119345478
38	C1QTNF5, MFRP	NM_031433.4(MFRP):c.1560G>C (p.Leu520_Cys521=)	SNV	Uncertain Significance	302949	rs886047829	GRCh37: 11:119212438-119212438 GRCh38: 11:119341728-119341728
39	C1QTNF5, MFRP	NM_031433.4(MFRP):c.456G>C (p.Arg152Ser)	SNV	Uncertain Significance	302971	rs756071297	GRCh37: 11:119216315-119216315 GRCh38: 11:119345605-119345605
40	C1QTNF5, MFRP	NM_031433.4(MFRP):c.303C>T (p.Ser101_His102=)	SNV	Uncertain Significance	302974	rs530322096	GRCh37: 11:119216607-119216607 GRCh38: 11:119345897-119345897
41	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*9C>G	SNV	Uncertain Significance	302948	rs886047828	GRCh37: 11:119212249-119212249 GRCh38: 11:119341539-119341539
42	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*316C>G	SNV	Uncertain Significance	302942	rs556985308	GRCh37: 11:119211942-119211942 GRCh38: 11:119341232-119341232
43	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*178C>T	SNV	Uncertain Significance	302945	rs886047826	GRCh37: 11:119212080-119212080 GRCh38: 11:119341370-119341370
44	C1QTNF5, MFRP	NM_031433.4(MFRP):c.642-2A>G	SNV	Uncertain Significance	497208	rs376898612	GRCh37: 11:119215716-119215716 GRCh38: 11:119345006-119345006
45	C1QTNF5, MFRP	NM_031433.4(MFRP):c.1124+1G>T	SNV	Uncertain Significance	631652	rs145719998	GRCh37: 11:119214525-119214525 GRCh38: 11:119343815-119343815
46	C1QTNF5, MFRP	NM_031433.4(MFRP):c.335C>T (p.Thr112Met)	SNV	Uncertain Significance	302973	rs145883448	GRCh37: 11:119216575-119216575 GRCh38: 11:119345865-119345865
47	C1QTNF5, MFRP	NM_031433.4(MFRP):c.321C>T (p.Ala107_Gly108=)	SNV	Uncertain Significance	877118	rs562580805	GRCh37: 11:119216589-119216589 GRCh38: 11:119345879-119345879
48	C1QTNF5, MFRP	NM_031433.4(MFRP):c.309C>G (p.Ser103Arg)	SNV	Uncertain Significance	877119	rs767087902	GRCh37: 11:119216601-119216601 GRCh38: 11:119345891-119345891
49	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*126G>C	SNV	Uncertain Significance	302946	rs886047827	GRCh37: 11:119212132-119212132 GRCh38: 11:119341422-119341422
50	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*116C>T	SNV	Uncertain Significance	877778	rs565342229	GRCh37: 11:119212142-119212142 GRCh38: 11:119341432-119341432

UniProtKB/Swiss-Prot genetic disease variations for Late-Onset Retinal Degeneration:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	C1QTNF5	p.Ser163Arg	VAR_032629	rs111033578

Sources

Expression for Late-Onset Retinal Degeneration

Search GEO for disease gene expression data for Late-Onset Retinal Degeneration.

Sources

Pathways for Late-Onset Retinal Degeneration

Pathways related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Visual Cycle in Retinal Rods ⁶⁴	11.1	RPE65 RLBP1 RHO
2	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	10.64	RPE65 RLBP1 RHO

Sources

GO Terms for Late-Onset Retinal Degeneration

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

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor outer segment	GO:0001750	9.9	CRB1 PRCD PRPH2 RHO RPGR TULP1
2	periciliary membrane compartment	GO:1990075	9.88	WHRN USH2A ADGRV1
3	stereocilia ankle link complex	GO:0002142	9.85	WHRN USH2A ADGRV1
4	USH2 complex	GO:1990696	9.8	WHRN USH2A ADGRV1
5	cell projection	GO:0042995	9.77	WHRN USH2A TULP1 SIGMAR1 RPGR RHO
6	stereocilium membrane	GO:0060171	9.73	USH2A ADGRV1
7	stereocilia ankle link	GO:0002141	9.73	WHRN USH2A ADGRV1
8	stereocilium bundle	GO:0032421	9.63	WHRN USH2A
9	photoreceptor inner segment	GO:0001917	9.47	WHRN USH2A TULP1 RHO PRPH2 CRB1

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor cell maintenance	GO:0045494	10.02	ADGRV1 CRB1 RHO TULP1 USH2A
2	detection of light stimulus involved in visual perception	GO:0050908	10.01	TULP1 RPE65 PRPH2 CRB1
3	response to stimulus	GO:0050896	10	USH2A TULP1 RPGR RPE65 RLBP1 RHO
4	retina homeostasis	GO:0001895	9.97	WHRN TULP1 RPE65
5	eye photoreceptor cell development	GO:0042462	9.97	TULP1 NR2E3 MFRP CRB1
6	establishment of protein localization	GO:0045184	9.93	WHRN USH2A ADGRV1
7	inner ear receptor cell differentiation	GO:0060113	9.91	ADGRV1 USH2A WHRN
8	photoreceptor cell outer segment organization	GO:0035845	9.84	PRPH2 CRB1
9	vitamin A metabolic process	GO:0006776	9.81	RPE65 RLBP1
10	sensory perception of light stimulus	GO:0050953	9.8	WHRN USH2A RHO ADGRV1
11	retina development in camera-type eye	GO:0060041	9.8	CRB1 MFRP NR2E3 PRPH2 RHO RPE65
12	maintenance of animal organ identity	GO:0048496	9.78	USH2A ADGRV1
13	retina morphogenesis in camera-type eye	GO:0060042	9.7	RPE65 CRB1
14	visual perception	GO:0007601	9.68	USH2A TULP1 RPGR RPE65 RLBP1 RHO