MCID: PRP026
MIFTS: 29

Peripheral Retinal Degeneration

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Peripheral Retinal Degeneration

MalaCards integrated aliases for Peripheral Retinal Degeneration:

Name: Peripheral Retinal Degeneration 12 15 32
Peripheral Degeneration of Retina 12 70

Classifications:



External Ids:

Disease Ontology 12 DOID:12161
ICD9CM 34 362.6
NCIt 50 C34919
SNOMED-CT 67 193393004
ICD10 32 H35.4
UMLS 70 C1320640

Summaries for Peripheral Retinal Degeneration

MalaCards based summary : Peripheral Retinal Degeneration, also known as peripheral degeneration of retina, is related to macular dystrophy, vitelliform, 3 and myopia. An important gene associated with Peripheral Retinal Degeneration is PRPH2 (Peripherin 2), and among its related pathways/superpathways is the visual cycle I (vertebrates). Affiliated tissues include eye and retina, and related phenotypes are pigmentation and vision/eye

Related Diseases for Peripheral Retinal Degeneration

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

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, vitelliform, 3 29.9 PRPH2 BEST1
2 myopia 29.8 WDR36 RHO MYOC COL2A1
3 retinal detachment 29.5 ZNF408 TSPAN12 RHO COL2A1
4 retinitis 29.4 RLBP1 RHO PRPH2 CRB1 CERKL ABCA4
5 night blindness 29.0 RLBP1 RHO PRPH2 CRB1 CERKL ABCA4
6 macular degeneration, age-related, 1 28.8 RLBP1 RHO PRPH2 MYOC CRB1 BEST1
7 retinal degeneration 28.7 RLBP1 RHO PRPH2 DHDDS CRB1 COL2A1
8 retinal disease 28.3 RLBP1 RHO PRPH2 MYOC CRB1 CERKL
9 retinitis pigmentosa 27.3 ZNF408 RLBP1 RHO PRPH2 MYOC DHDDS
10 fundus dystrophy 26.8 ZNF408 TSPAN12 RLBP1 RHO PRPH2 MYOC
11 ceroid lipofuscinosis, neuronal, 9 10.4 CLN5 CLN3
12 visual epilepsy 10.4 CLN5 CLN3
13 ceroid lipofuscinosis, neuronal, 11 10.3 CLN5 CLN3
14 ceroid lipofuscinosis, neuronal, 13 10.3 CLN5 CLN3
15 ceroid lipofuscinosis, neuronal, 7 10.3 CLN5 CLN3
16 stargardt macular degeneration 10.3 PRPH2 ABCA4
17 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.3 CLN5 CLN3
18 excessive tearing 10.3 WDR36 MYOC
19 retinal telangiectasia 10.3 TSPAN12 CRB1
20 partial central choroid dystrophy 10.3 PRPH2 ABCA4
21 hereditary choroidal atrophy 10.3 PRPH2 ABCA4
22 exudative vitreoretinopathy 4 10.3 TSPAN12 MYOC
23 glaucoma-related pigment dispersion syndrome 10.3 WDR36 MYOC
24 pattern dystrophy 10.2 RHO PRPH2
25 spinocerebellar ataxia, autosomal recessive 7 10.2 CLN5 CLN3
26 microphthalmia, isolated 2 10.2 WDR36 MYOC
27 hydrophthalmos 10.2 WDR36 MYOC
28 retinal perforation 10.2 RLBP1 COL2A1
29 steroid-induced glaucoma 10.2 WDR36 MYOC
30 optic disk drusen 10.2 RHO CRB1
31 ceroid lipofuscinosis, neuronal, 10 10.2 CLN5 CLN3
32 pigmented paravenous chorioretinal atrophy 10.2 CRB1 ABCA4
33 chorioretinitis 10.2 CRB1 ABCA4
34 phacogenic glaucoma 10.2 WDR36 MYOC
35 aspartylglucosaminuria 10.2 CLN5 CLN3
36 red-green color blindness 10.2 RHO ABCA4
37 neuroretinitis 10.1
38 exudative vitreoretinopathy 5 10.1 TSPAN12 RHO PRPH2
39 microphthalmia, isolated 6 10.1 CRB1 BEST1
40 newfoundland rod-cone dystrophy 10.1 RLBP1 RHO PRPH2
41 interval angle-closure glaucoma 10.1 BEST1 ABCA4
42 acute closed-angle glaucoma 10.1 MYOC BEST1
43 macular dystrophy, vitelliform, 2 10.1 PRPH2 BEST1
44 pseudoretinitis pigmentosa 10.1 CRB1 CERKL
45 leber congenital amaurosis 1 10.1 RHO PRPH2 CRB1
46 macular degeneration, age-related, 6 10.1 BEST1 ABCA4
47 senior-loken syndrome 1 10.1 RHO PRPH2 CRB1
48 macular degeneration, age-related, 4 10.1 BEST1 ABCA4
49 yemenite deaf-blind hypopigmentation syndrome 10.1 RHO ABCA4
50 occult macular dystrophy 10.1 RHO PRPH2 ABCA4

Graphical network of the top 20 diseases related to Peripheral Retinal Degeneration:



Diseases related to Peripheral Retinal Degeneration

Symptoms & Phenotypes for Peripheral Retinal Degeneration

MGI Mouse Phenotypes related to Peripheral Retinal Degeneration:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.43 ABCA4 BEST1 CRB1 PRPH2 RHO RLBP1
2 vision/eye MP:0005391 9.4 ABCA4 BEST1 CERKL CLN3 CLN5 COL2A1

Drugs & Therapeutics for Peripheral Retinal Degeneration

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pain Perception at Laser Treatment of Peripheral Retinal Degenerations With Green and Infrared Wavelengths Completed NCT01033968 Phase 4
2 The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration Completed NCT03492853

Search NIH Clinical Center for Peripheral Retinal Degeneration

Genetic Tests for Peripheral Retinal Degeneration

Anatomical Context for Peripheral Retinal Degeneration

MalaCards organs/tissues related to Peripheral Retinal Degeneration:

40
Eye, Retina

Publications for Peripheral Retinal Degeneration

Articles related to Peripheral Retinal Degeneration:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. 61
33258285 2020
2
Multimodal Imaging of CRB1 Retinitis Pigmentosa with a Peripheral Retinal Tumor. 61
32976229 2020
3
Deep learning for identification of peripheral retinal degeneration using ultra-wide-field fundus images: is it sufficient for clinical translation? 61
32566548 2020
4
Early posterior vitreous detachment is associated with LAMA5 dominant mutation. 61
30589377 2019
5
Enhanced Visual Attentional Modulation in Patients with Inherited Peripheral Retinal Degeneration in the Absence of Cortical Degeneration. 61
31341470 2019
6
Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment. 61
30015854 2018
7
THE IMPORTANCE OF THE PERIPHERAL RETINA IN PATIENTS WITH CENTRAL SEROUS CHORIORETINOPATHY. 61
28234807 2018
8
Risk factors for multiple retinal tears in patients with acute posterior vitreous detachment. 61
28160191 2018
9
The Prevalence and Associations of Peripheral Retinopathy: Baseline Study of Guangzhou Office Computer Workers. 61
30026983 2018
10
[Secondary diseases in high myopia]. 61
27844100 2017
11
Primary visual cortical remapping in patients with inherited peripheral retinal degeneration. 61
28116235 2017
12
Ophthalmologic findings in contact sport disciplines. 61
26333793 2016
13
Retinitis pigmentosa associated with a mutation in BEST1. 61
29503890 2016
14
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1. 61
26771239 2016
15
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. 61
26709265 2016
16
Sclera as the target tissue in progressive myopia. 61
27141597 2015
17
A Retrospective Clinical Study of the Etiology and Post-operative Visual Outcome of Rhegmatogenous Retinal Detachment. 61
25121047 2014
18
Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. 61
24664694 2014
19
Comparison of image-assisted versus traditional fundus examination. 61
28539783 2013
20
Investigation of fellow eye of unilateral retinal detachment in Shih-Tzu. 61
20840105 2010
21
Rhegmatogenous retinal detachments in children in India: clinical characteristics, risk factors, and surgical outcomes. 61
18835797 2008
22
[Peripherin/RDS gene mutation in a patient with choroidal neovascularization]. 61
17461040 2007
23
An ultrastructural study of the pathology of the retinal pigment epithelium, Bruch's membrane, and the choriocapillaris in the aged Fischer 344 rat. 61
16966148 2006
24
Prevalence and characteristics of peripheral retinal degeneration in Chinese adults with high myopia: a cross-sectional prevalence survey. 61
15829850 2005
25
Ocular findings in sickle cell disease patients in Lagos. 61
15505651 2004
26
[Retinoschisis. 1. Diagnosis, classification, examination methods]. 61
15017774 2004
27
The copper-iron connection: hereditary aceruloplasminemia. 61
12382203 2002
28
X-linked recessive atrophic macular degeneration from RPGR mutation. 61
12160730 2002
29
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. 61
11879143 2002
30
Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. 61
8912967 1996
31
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. 61
7862413 1995
32
The influences of age, retinal topography, and gender on retinal degeneration in the Fischer 344 rat. 61
7922494 1994
33
[Clinical studies of eye involvement in porphyria cutanea tarda]. 61
1861402 1991
34
[Visual function of cynomolgus monkeys with macula degeneration and peripheral retinal degeneration]. 61
2242769 1990
35
Screening for mouse retinal degenerations. I. Correlation of indirect ophthalmoscopy, electroretinograms, and histology. 61
2776628 1989
36
[The clinical characteristics of different types of peripheral retinal degeneration and their relationship to retinal breaks and detachment]. 61
2636341 1989
37
Dominant macular subretinal neovascularization with peripheral retinal degeneration. 61
2446233 1987
38
[Refractive errors and peripheral retinal degeneration]. 61
3113886 1987
39
[Lasers in peripheral retinal degeneration]. 61
3837642 1985
40
[Lattice degeneration of the peripheral retina: ultrastructural study]. 61
2997682 1985
41
[Peripheral retinal degeneration]. 61
6534572 1984
42
Autosomal dominant inheritance of retinoschisis. 61
7124876 1982
43
[Posterior vitreous detachment with collapse, and peripheral retinal degeneration in the aetiology of idiopathic retinal detachment. A synapsis of clinical observations and anatomical studies (author's transl)]. 61
7311360 1981
44
Animal model: peripheral retinal degeneration in rats. 61
525679 1979
45
Age-related and light-associated retinal changes in Fischer rats. 61
669893 1978
46
[Coexistence of different forms of familial macular and peripheral retinal degeneration (author's transl)]. 61
592670 1977
47
The classification and terminology of peripheral retinal degeneration. 61
1160882 1975
48
Peripheral retinal degeneration in high myopia. 61
5546858 1971
49
[Peripheral retinal degeneration]. 61
5460922 1970
50
Peripheral retinal degeneration. 61
6054908 1967

Variations for Peripheral Retinal Degeneration

Expression for Peripheral Retinal Degeneration

Search GEO for disease gene expression data for Peripheral Retinal Degeneration.

Pathways for Peripheral Retinal Degeneration

Pathways related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.54 RLBP1 RHO ABCA4

GO Terms for Peripheral Retinal Degeneration

Cellular components related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.26 RHO PRPH2 CRB1 CERKL
2 photoreceptor disc membrane GO:0097381 9.16 RHO ABCA4
3 photoreceptor outer segment GO:0001750 9.02 RHO PRPH2 CRB1 CERKL ABCA4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.63 WDR36 RLBP1 RHO PRPH2 BEST1 ABCA4
2 retina development in camera-type eye GO:0060041 9.54 RHO PRPH2 CRB1
3 retinoid metabolic process GO:0001523 9.5 RLBP1 RHO ABCA4
4 retina layer formation GO:0010842 9.49 TSPAN12 CRB1
5 cellular response to light stimulus GO:0071482 9.48 RHO CRB1
6 photoreceptor cell outer segment organization GO:0035845 9.46 PRPH2 CRB1
7 lysosomal lumen acidification GO:0007042 9.43 CLN5 CLN3
8 photoreceptor cell maintenance GO:0045494 9.43 RHO CRB1 ABCA4
9 phototransduction, visible light GO:0007603 9.4 RHO ABCA4
10 visual perception GO:0007601 9.23 WDR36 RLBP1 RHO PRPH2 CRB1 COL2A1
11 detection of light stimulus involved in visual perception GO:0050908 9.13 PRPH2 CRB1 BEST1

Molecular functions related to Peripheral Retinal Degeneration 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 Peripheral Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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