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 58
Patterned Dystrophy of the Retinal Pigment Epithelium 58

Characteristics:

Orphanet epidemiological data:

58
pattern dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

MESH via Orphanet 44 C536309
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C1868569
Orphanet 58 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 patterned 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 Hormone Antagonists 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 87)
# Related Disease Score Top Affiliating Genes
1 butterfly-shaped pigment dystrophy 32.2 ROM1 PRPH2 OTX2
2 patterned macular dystrophy 31.6 ROM1 RHO
3 vitelliform macular dystrophy 29.6 ROM1 PRPH2
4 retinitis pigmentosa 7 29.5 ROM1 PRPH2
5 retinitis 28.8 RP2 ROM1 RHO PRPH2
6 cone dystrophy 28.8 RHO PRPH2
7 stargardt disease 28.4 ROM1 RHO PRPH2 CRX
8 macular degeneration, age-related, 1 28.2 RHO PRPH2 OTX2 HTRA1 CRX
9 fundus albipunctatus 28.2 ROM1 RHO PRPH2 CRX
10 inherited retinal disorder 28.1 RP2 RHO PRPH2 CRX
11 retinal degeneration 28.1 RP2 ROM1 RHO PRPH2 CRX
12 retinal disease 27.8 RP2 ROM1 RHO PRPH2 CRX
13 retinitis pigmentosa 27.8 RP2 ROM1 RHO PRPH2 OTX2 CRX
14 fundus dystrophy 26.7 RP2 ROM1 RHO PRPH2 OTX2 HTRA1
15 multifocal pattern dystrophy simulating fundus flavimaculatus 12.4
16 macular dystrophy, patterned, 1 12.3
17 microphthalmia, syndromic 5 11.3
18 retinal dystrophy, reticular pigmentary, of posterior pole 11.0
19 macular dystrophy, patterned, 2 11.0
20 macular dystrophy, patterned, 3 11.0
21 leber congenital amaurosis 4 10.0 PRPH2 CRX
22 branchiootic syndrome 1 10.0
23 neuroretinitis 10.0
24 digenic disease 10.0 PRPH2 CRX
25 macular degeneration, age-related, 7 10.0 OTX2 HTRA1
26 fundus pulverulentus 9.9
27 stargardt macular degeneration 9.9 RHO PRPH2
28 pseudoxanthoma elasticum 9.8
29 diabetes and deafness, maternally inherited 9.8
30 choroid disease 9.8 RHO PRPH2
31 gyrate atrophy of choroid and retina 9.8 RHO PRPH2
32 partial central choroid dystrophy 9.8 ROM1 PRPH2 CRX
33 hereditary choroidal atrophy 9.8 ROM1 PRPH2 CRX
34 vitreous disease 9.8 RHO OTX2
35 choroidal dystrophy, central areolar, 1 9.8 ROM1 PRPH2 CRX
36 reticular dystrophy of retinal pigment epithelium 9.8
37 dowling-degos disease 1 9.8
38 stargardt disease 1 9.8
39 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8
40 glaucoma-related pigment dispersion syndrome 9.8
41 angioid streaks 9.8
42 microvascular complications of diabetes 5 9.8
43 ptosis 9.8
44 lactic acidosis 9.8
45 myopathy 9.8
46 mitochondrial myopathy 9.8
47 myotonic dystrophy 9.8
48 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.8
49 cone-rod dystrophy 6 9.7 PRPH2 CRX
50 late-onset retinal degeneration 9.7 RHO PRPH2

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:

45
# 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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
2 Hormone Antagonists Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 glucocorticoids Phase 2, Phase 3
5 Triamcinolone diacetate Phase 2, Phase 3
6 triamcinolone acetonide Phase 2, Phase 3
7 Triamcinolone hexacetonide Phase 2, Phase 3
8 Anti-Inflammatory Agents 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:

40
Eye, Retina, Testes

Publications for Pattern Dystrophy

Articles related to Pattern Dystrophy:

(show top 50) (show all 154)
# Title Authors PMID Year
1
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations. 61
32409007 2020
2
Macular hole and serous pigment epithelial detachment in bilateral acquired vitelliform lesions. 61
32140615 2020
3
Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum. 61
32445016 2020
4
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. 61
31704701 2020
5
INTRARETINAL HYPERREFLECTIVE LINES. 61
32251237 2020
6
Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. 61
32124677 2020
7
Novel molecular mechanisms for Prph2-associated pattern dystrophy. 61
31914632 2020
8
PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy. 61
31618092 2019
9
Foveal Sparing in Central Retinal Dystrophies. 61
31398255 2019
10
[Imaging of an atypical Butterfly Shaped Pattern dystrophy producing a "five-pointed star" appearance]. 61
30926268 2019
11
Case Series: Multimodal Imaging Reveals the Spectrum of Pattern Dystrophies of the Retinal Pigment Epithelium. 61
30907861 2019
12
Vasculitis and Retrofoveal Choroidal Neovessels in a Case of Multifocal Pattern Dystrophy. 61
30999342 2019
13
Retinal findings in carriers of monoallelic ABCC6 mutations. 61
30923132 2019
14
Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum. 61
30470876 2019
15
Choroidal osteoma and pattern dystrophy of retinal pigment epithelium. 61
29260499 2019
16
Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine. 61
30585925 2019
17
Efficacy of anti-VEGF in the treatment of choroidal neovascular membrane secondary to pattern dystrophy simulating fundus flavimaculatus. 61
31355119 2019
18
EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings. 61
30312263 2019
19
THE EXPANDING CLINICAL SPECTRUM OF CHOROIDAL EXCAVATION IN MACULAR DYSTROPHIES. 61
28800018 2018
20
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation. 61
29961824 2018
21
Pattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature. 61
30208862 2018
22
RETINAL DYSTROPHY IN A PATIENT WITH MCARDLE DISEASE. 61
30074569 2018
23
Multimodal imaging in a case of butterfly pattern dystrophy of retinal pigment epithelium. 61
28299497 2018
24
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION. 61
28225368 2018
25
Pattern Dystrophy. 61
30578490 2018
26
Clinical and imaging findings of pattern dystrophy subtypes; Diagnostic errors and unnecessary treatment in clinical practice. 61
29195727 2018
27
Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum. 61
29214314 2017
28
The Nine-Step Minnesota Grading System for Eyebank Eyes With Age Related Macular Degeneration: A Systematic Approach to Study Disease Stages. 61
29075760 2017
29
The Evolution of Outer Retinal Tubulation, a Neurodegeneration and Gliosis Prominent in Macular Diseases. 61
28456420 2017
30
Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States. 61
27120116 2017
31
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. 61
28053051 2017
32
Pseudovitelliform maculopathy associated with deferoxamine toxicity: multimodal imaging and electrophysiology of a rare entity. 61
28924413 2017
33
Pattern dystrophy in a female carrier of RP2 mutation. 61
26885761 2016
34
The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function. 61
27365499 2016
35
β-Thalassemia and ocular implications: a systematic review. 61
27390837 2016
36
Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum. 61
27367499 2016
37
Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus. 61
27380982 2016
38
Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy. 61
27847664 2016
39
Comet Lesions in Patients with Pseudoxanthoma Elasticum. 61
27800246 2015
40
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. 61
25675413 2015
41
Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome. 61
25766436 2015
42
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. 61
25001182 2014
43
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. 61
25293953 2014
44
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 61
25082885 2014
45
Multimodal imaging in deferoxamine retinopathy. 61
24378427 2014
46
The spectrum of ocular alterations in patients with β-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum. 61
24314836 2014
47
Reticular pattern dystrophy of the retina: a spectral-domain optical coherence tomography analysis. 61
24075421 2013
48
Geographic chorioretinal atrophy in pseudoxanthoma elasticum. 61
23891334 2013
49
Outer retinal tubulation in degenerative retinal disorders. 61
23676993 2013
50
Pachychoroid pigment epitheliopathy. 61
23751942 2013

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 cell projection GO:0042995 9.46 RP2 ROM1 RHO PRPH2
2 photoreceptor inner segment GO:0001917 9.26 RHO PRPH2
3 photoreceptor outer segment membrane GO:0042622 8.96 ROM1 RHO
4 photoreceptor outer segment GO:0001750 8.8 ROM1 RHO PRPH2

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.26 ROM1 RHO PRPH2 CRX
2 retina development in camera-type eye GO:0060041 9.16 RHO PRPH2
3 visual perception GO:0007601 9.02 RP2 ROM1 RHO PRPH2 CRX

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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