MCID: PTT063
MIFTS: 29

Pattern Dystrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Pattern Dystrophy

MalaCards integrated aliases for Pattern Dystrophy:

Name: Pattern Dystrophy 59
Patterned Dystrophy of the Retinal Pigment Epithelium 59

Characteristics:

Orphanet epidemiological data:

59
pattern dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

MESH via Orphanet 45 C536309
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 73 C1868569
Orphanet 59 ORPHA63454

Summaries for Pattern Dystrophy

MalaCards based summary : Pattern Dystrophy, also known as patterned dystrophy of the retinal pigment epithelium, is related to butterfly-shaped pigment dystrophy and vitelliform macular dystrophy. An important gene associated with Pattern Dystrophy is OTX2 (Orthodenticle Homeobox 2), and among its related pathways/superpathways is Cargo trafficking to the periciliary membrane. The drugs Triamcinolone and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are cardiovascular system and nervous system

Related Diseases for Pattern Dystrophy

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 butterfly-shaped pigment dystrophy 32.2 ROM1 PRPH2 OTX2
2 vitelliform macular dystrophy 29.6 ROM1 PRPH2
3 stargardt disease 29.4 RHO PRPH2
4 retinitis 29.0 RP2 RHO PRPH2
5 macular degeneration, age-related, 1 28.9 RHO PRPH2 HTRA1
6 fundus albipunctatus 28.8 RHO PRPH2
7 stargardt disease 1 28.6 ROM1 RHO CRX
8 retinitis pigmentosa 7 28.5 ROM1 RHO PRPH2
9 retinal disease 28.1 ROM1 RHO PRPH2 CRX
10 retinal degeneration 27.7 RP2 ROM1 RHO PRPH2 CRX
11 retinitis pigmentosa 27.7 RP2 ROM1 RHO PRPH2 CRX
12 fundus dystrophy 26.8 RP2 ROM1 RHO PRPH2 OTX2 CRX
13 multifocal pattern dystrophy simulating fundus flavimaculatus 12.4
14 macular dystrophy, patterned, 1 12.3
15 microphthalmia, syndromic 5 11.3
16 patterned macular dystrophy 11.3
17 retinal dystrophy, reticular pigmentary, of posterior pole 11.0
18 macular dystrophy, patterned, 2 11.0
19 macular dystrophy, patterned, 3 11.0
20 peripheral retinal degeneration 10.1 ROM1 PRPH2
21 branchiootic syndrome 1 10.0
22 neuroretinitis 10.0
23 fundus pulverulentus 9.9
24 diabetes and deafness, maternally inherited 9.8
25 prolonged electroretinal response suppression 9.8 PRPH2 CRX
26 stargardt macular degeneration 9.8 RHO PRPH2
27 reticular dystrophy of retinal pigment epithelium 9.8
28 dowling-degos disease 1 9.8
29 pseudoxanthoma elasticum 9.8
30 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8
31 glaucoma-related pigment dispersion syndrome 9.8
32 angioid streaks 9.8
33 microvascular complications of diabetes 5 9.8
34 ptosis 9.8
35 lactic acidosis 9.8
36 myopathy 9.8
37 mitochondrial myopathy 9.8
38 myotonic dystrophy 9.8
39 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.8
40 myotonia atrophica 9.8
41 inherited retinal disorder 9.8
42 retinitis pigmentosa 1 9.7 RHO PRPH2
43 myotonic dystrophy 1 9.6
44 macular dystrophy, vitelliform, 3 9.6
45 mucopolysaccharidosis-plus syndrome 9.6
46 inflammatory bowel disease 9.6
47 cone dystrophy 9.6
48 thalassemia 9.6
49 hemosiderosis 9.6
50 congestive heart failure 9.6

Graphical network of the top 20 diseases related to Pattern Dystrophy:



Diseases related to Pattern Dystrophy

Symptoms & Phenotypes for Pattern Dystrophy

MGI Mouse Phenotypes related to Pattern Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 CRX HTRA1 OTX2 PRPH2 RHO ROM1
2 nervous system MP:0003631 9.63 CRX OTX2 PRPH2 RHO ROM1 RP2
3 pigmentation MP:0001186 9.26 CRX OTX2 PRPH2 RHO
4 vision/eye MP:0005391 9.17 CRX HTRA1 OTX2 PRPH2 RHO ROM1

Drugs & Therapeutics for Pattern Dystrophy

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
2
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
3 Hormone Antagonists Phase 2, Phase 3
4 Angiogenesis Inhibitors Phase 2, Phase 3
5 triamcinolone acetonide Phase 2, Phase 3
6 Triamcinolone hexacetonide Phase 2, Phase 3
7 Triamcinolone diacetate Phase 2, Phase 3
8 Anti-Inflammatory Agents Phase 2, Phase 3
9 Hormones Phase 2, Phase 3
10 glucocorticoids Phase 2, Phase 3
11 Angiogenesis Modulating Agents Phase 2, Phase 3
12 Antineoplastic Agents, Immunological Phase 2, Phase 3
13 Immunologic Factors Phase 2, Phase 3
14 Immunosuppressive Agents Phase 2, Phase 3
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intravitreal Avastin Injection for the Treatment of Choroidal Neovascularization Secondary to Pattern Dystrophy Unknown status NCT00391144 Phase 2, Phase 3
2 Use Of Intravitreal Aflibercept Injections In The Treatment Of Adult-Onset Vitelliform Detachments Associated With Pattern Dystrophy Withdrawn NCT01965041 aflibercept

Search NIH Clinical Center for Pattern Dystrophy

Genetic Tests for Pattern Dystrophy

Anatomical Context for Pattern Dystrophy

MalaCards organs/tissues related to Pattern Dystrophy:

41
Eye, Retina, Testes

Publications for Pattern Dystrophy

Articles related to Pattern Dystrophy:

(show top 50) (show all 146)
# Title Authors PMID Year
1
Foveal Sparing in Central Retinal Dystrophies. 38
31398255 2019
2
[Imaging of an atypical Butterfly Shaped Pattern dystrophy producing a "five-pointed star" appearance]. 38
30926268 2019
3
Case Series: Multimodal Imaging Reveals the Spectrum of Pattern Dystrophies of the Retinal Pigment Epithelium. 38
30907861 2019
4
Vasculitis and Retrofoveal Choroidal Neovessels in a Case of Multifocal Pattern Dystrophy. 38
30999342 2019
5
Retinal findings in carriers of monoallelic ABCC6 mutations. 38
30923132 2019
6
Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum. 38
30470876 2019
7
Choroidal osteoma and pattern dystrophy of retinal pigment epithelium. 38
29260499 2019
8
Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine. 38
30585925 2019
9
Efficacy of anti-VEGF in the treatment of choroidal neovascular membrane secondary to pattern dystrophy simulating fundus flavimaculatus. 38
31355119 2019
10
EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings. 38
30312263 2019
11
THE EXPANDING CLINICAL SPECTRUM OF CHOROIDAL EXCAVATION IN MACULAR DYSTROPHIES. 38
28800018 2018
12
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation. 38
29961824 2018
13
Pattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature. 38
30208862 2018
14
RETINAL DYSTROPHY IN A PATIENT WITH MCARDLE DISEASE. 38
30074569 2018
15
Multimodal imaging in a case of butterfly pattern dystrophy of retinal pigment epithelium. 38
28299497 2018
16
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION. 38
28225368 2018
17
Clinical and imaging findings of pattern dystrophy subtypes; Diagnostic errors and unnecessary treatment in clinical practice. 38
29195727 2018
18
Pattern Dystrophy. 38
30578490 2018
19
Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum. 38
29214314 2017
20
The Nine-Step Minnesota Grading System for Eyebank Eyes With Age Related Macular Degeneration: A Systematic Approach to Study Disease Stages. 38
29075760 2017
21
The Evolution of Outer Retinal Tubulation, a Neurodegeneration and Gliosis Prominent in Macular Diseases. 38
28456420 2017
22
Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States. 38
27120116 2017
23
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. 38
28053051 2017
24
Pseudovitelliform maculopathy associated with deferoxamine toxicity: multimodal imaging and electrophysiology of a rare entity. 38
28924413 2017
25
Pattern dystrophy in a female carrier of RP2 mutation. 38
26885761 2016
26
The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function. 38
27365499 2016
27
β-Thalassemia and ocular implications: a systematic review. 38
27390837 2016
28
Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum. 38
27367499 2016
29
Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus. 38
27380982 2016
30
Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy. 38
27847664 2016
31
Comet Lesions in Patients with Pseudoxanthoma Elasticum. 38
27800246 2015
32
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. 38
25675413 2015
33
Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome. 38
25766436 2015
34
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. 38
25293953 2014
35
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. 38
25001182 2014
36
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 38
25082885 2014
37
Multimodal imaging in deferoxamine retinopathy. 38
24378427 2014
38
The spectrum of ocular alterations in patients with β-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum. 38
24314836 2014
39
Reticular pattern dystrophy of the retina: a spectral-domain optical coherence tomography analysis. 38
24075421 2013
40
Geographic chorioretinal atrophy in pseudoxanthoma elasticum. 38
23891334 2013
41
Outer retinal tubulation in degenerative retinal disorders. 38
23676993 2013
42
Pachychoroid pigment epitheliopathy. 38
23751942 2013
43
Common spectral domain OCT and electrophysiological findings in different pattern dystrophies. 38
23426737 2013
44
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. 38
25390527 2013
45
Pattern dystrophy of the macula in a case of steinert disease. 38
24163680 2013
46
An update on the ocular phenotype in patients with pseudoxanthoma elasticum. 38
23577018 2013
47
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections. 38
22466463 2012
48
Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy. 38
22869689 2012
49
Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism. 38
22893068 2012
50
Butterfly-shaped pattern dystrophy in myotonic dystrophy. 38
22892517 2012

Variations for Pattern Dystrophy

Expression for Pattern Dystrophy

Search GEO for disease gene expression data for Pattern Dystrophy.

Pathways for Pattern Dystrophy

Pathways related to Pattern Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.65 RP2 RHO

GO Terms for Pattern Dystrophy

Cellular components related to Pattern Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 RHO PRPH2
2 photoreceptor outer segment membrane GO:0042622 8.62 ROM1 RHO

Biological processes related to Pattern Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.02 RP2 ROM1 RHO PRPH2 CRX
2 retina development in camera-type eye GO:0060041 8.96 RHO PRPH2

Sources for Pattern Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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