MCID: PTT063
MIFTS: 36

Pattern Dystrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Pattern Dystrophy

MalaCards integrated aliases for Pattern Dystrophy:

Name: Pattern Dystrophy 20 58
Patterned Dystrophy of the Retinal Pigment Epithelium 58 29 6

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 45 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 retinitis pigmentosa 7. An important gene associated with Pattern Dystrophy is PRPH2 (Peripherin 2), and among its related pathways/superpathways is Cargo trafficking to the periciliary membrane. The drugs Triamcinolone and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, 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 79)
# Related Disease Score Top Affiliating Genes
1 butterfly-shaped pigment dystrophy 31.5 ROM1 PRPH2 OTX2
2 retinitis pigmentosa 7 29.6 ROM1 PRPH2
3 retinitis 29.3 RP2 ROM1 RHO PRPH2
4 stargardt disease 1 28.9 ROM1 RHO PRPH2 CRX
5 stargardt disease 28.9 ROM1 RHO PRPH2 CRX
6 vitelliform macular dystrophy 28.7 ROM1 RHO PRPH2 CRX
7 fundus albipunctatus 28.7 ROM1 RHO PRPH2 CRX
8 macular degeneration, age-related, 1 28.6 ROM1 RHO PRPH2 OTX2 HTRA1 CRX
9 retinitis pigmentosa 28.6 RP2 ROM1 RHO PRPH2 OTX2 CRX
10 retinal degeneration 28.3 RP2 ROM1 RHO PRPH2 HTRA1 CRX
11 retinal disease 28.3 RP2 ROM1 RHO PRPH2 CRX
12 fundus dystrophy 27.7 RP2 ROM1 RHO PRPH2 OTX2 HTRA1
13 multifocal pattern dystrophy simulating fundus flavimaculatus 11.2
14 microphthalmia, syndromic 5 10.9
15 macular dystrophy, patterned, 1 10.1
16 neuroretinitis 10.1
17 branchiootic syndrome 1 10.1
18 fundus pulverulentus 10.0
19 macular degeneration, age-related, 7 10.0 OTX2 HTRA1
20 pseudoxanthoma elasticum 10.0
21 diabetes and deafness, maternally inherited 10.0
22 digenic disease 9.9 PRPH2 CRX
23 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.9
24 glaucoma-related pigment dispersion syndrome 9.9
25 angioid streaks 9.9
26 microvascular complications of diabetes 5 9.9
27 ptosis 9.9
28 lactic acidosis 9.9
29 myopathy 9.9
30 mitochondrial myopathy 9.9
31 myotonic dystrophy 9.9
32 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.9
33 inherited retinal disorder 9.9
34 peripheral retinal degeneration 9.9 RHO PRPH2
35 partial central choroid dystrophy 9.9 ROM1 PRPH2 CRX
36 hereditary choroidal atrophy 9.9 ROM1 PRPH2 CRX
37 patterned macular dystrophy 9.9 ROM1 RHO
38 occult macular dystrophy 9.8 RHO PRPH2
39 newfoundland rod-cone dystrophy 9.8 RHO PRPH2
40 choroidal dystrophy, central areolar, 1 9.8 ROM1 PRPH2 CRX
41 choroid disease 9.8 RHO PRPH2
42 vitreous disease 9.8 RHO OTX2
43 retinitis pigmentosa 4 9.8 RP2 RHO
44 myotonic dystrophy 1 9.7
45 dowling-degos disease 1 9.7
46 macular dystrophy, vitelliform, 3 9.7
47 mucopolysaccharidosis-plus syndrome 9.7
48 cataract 9.7
49 vasculitis 9.7
50 crohn's disease 9.7

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

Genetic tests related to Pattern Dystrophy:

# Genetic test Affiliating Genes
1 Patterned Dystrophy of the Retinal Pigment Epithelium 29

Anatomical Context for Pattern Dystrophy

MalaCards organs/tissues related to Pattern Dystrophy:

40
Eye, Retina

Publications for Pattern Dystrophy

Articles related to Pattern Dystrophy:

(show top 50) (show all 159)
# Title Authors PMID Year
1
INTRARETINAL HYPERREFLECTIVE LINES. 61
32251237 2021
2
Deep learning-based classification of retinal atrophy using fundus autofluorescence imaging. 61
33383315 2020
3
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy. 61
33137351 2020
4
Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum. 61
32445016 2020
5
Retinal findings in carriers of monoallelic ABCC6 mutations. 61
30923132 2020
6
PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation. 61
32660024 2020
7
Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies. 61
32646556 2020
8
A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy. 61
32579694 2020
9
Macular hole and serous pigment epithelial detachment in bilateral acquired vitelliform lesions. 61
32140615 2020
10
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations. 61
32409007 2020
11
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. 61
31704701 2020
12
Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. 61
32124677 2020
13
Novel molecular mechanisms for Prph2-associated pattern dystrophy. 61
31914632 2020
14
PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy. 61
31618092 2019
15
Foveal Sparing in Central Retinal Dystrophies. 61
31398255 2019
16
[Imaging of an atypical Butterfly Shaped Pattern dystrophy producing a "five-pointed star" appearance]. 61
30926268 2019
17
Case Series: Multimodal Imaging Reveals the Spectrum of Pattern Dystrophies of the Retinal Pigment Epithelium. 61
30907861 2019
18
Vasculitis and Retrofoveal Choroidal Neovessels in a Case of Multifocal Pattern Dystrophy. 61
30999342 2019
19
Choroidal osteoma and pattern dystrophy of retinal pigment epithelium. 61
29260499 2019
20
Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum. 61
30470876 2019
21
EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings. 61
30312263 2019
22
Efficacy of anti-VEGF in the treatment of choroidal neovascular membrane secondary to pattern dystrophy simulating fundus flavimaculatus. 61
31355119 2019
23
Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine. 61
30585925 2019
24
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation. 61
29961824 2018
25
THE EXPANDING CLINICAL SPECTRUM OF CHOROIDAL EXCAVATION IN MACULAR DYSTROPHIES. 61
28800018 2018
26
Pattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature. 61
30208862 2018
27
RETINAL DYSTROPHY IN A PATIENT WITH MCARDLE DISEASE. 61
30074569 2018
28
Multimodal imaging in a case of butterfly pattern dystrophy of retinal pigment epithelium. 61
28299497 2018
29
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION. 61
28225368 2018
30
Pattern Dystrophy. 61
30578490 2018
31
Clinical and imaging findings of pattern dystrophy subtypes; Diagnostic errors and unnecessary treatment in clinical practice. 61
29195727 2018
32
Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum. 61
29214314 2017
33
The Nine-Step Minnesota Grading System for Eyebank Eyes With Age Related Macular Degeneration: A Systematic Approach to Study Disease Stages. 61
29075760 2017
34
The Evolution of Outer Retinal Tubulation, a Neurodegeneration and Gliosis Prominent in Macular Diseases. 61
28456420 2017
35
Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States. 61
27120116 2017
36
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. 61
28053051 2017
37
Pseudovitelliform maculopathy associated with deferoxamine toxicity: multimodal imaging and electrophysiology of a rare entity. 61
28924413 2017
38
Pattern dystrophy in a female carrier of RP2 mutation. 61
26885761 2016
39
The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function. 61
27365499 2016
40
β-Thalassemia and ocular implications: a systematic review. 61
27390837 2016
41
Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum. 61
27367499 2016
42
Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus. 61
27380982 2016
43
Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy. 61
27847664 2016
44
Comet Lesions in Patients with Pseudoxanthoma Elasticum. 61
27800246 2015
45
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. 61
25675413 2015
46
Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome. 61
25766436 2015
47
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. 61
25001182 2014
48
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. 61
25293953 2014
49
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 61
25082885 2014
50
Multimodal imaging in deferoxamine retinopathy. 61
24378427 2014

Variations for Pattern Dystrophy

ClinVar genetic disease variations for Pattern Dystrophy:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRPH2 NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp) SNV Pathogenic 941494 6:42672292-42672292 6:42704554-42704554
2 PRPH2 NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter) SNV Pathogenic 973708 6:42672319-42672319 6:42704581-42704581
3 PRPH2 NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) SNV Pathogenic 13173 rs61755798 6:42672302-42672302 6:42704564-42704564
4 PRPH2 NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) SNV Pathogenic 13179 rs61755771 6:42689937-42689937 6:42722199-42722199
5 PRPH2 NM_000322.5(PRPH2):c.310_313del (p.Ile104fs) Deletion Pathogenic 958838 6:42689760-42689763 6:42722022-42722025
6 PRPH2 NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) SNV Pathogenic 98666 rs61755781 6:42689651-42689651 6:42721913-42721913
7 PRPH2 NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) SNV Pathogenic 866925 6:42672223-42672223 6:42704485-42704485
8 PRPH2 NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) SNV Pathogenic 98703 rs61755814 6:42672216-42672216 6:42704478-42704478
9 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic 98713 rs281865373 6:42672100-42672100 6:42704362-42704362
10 PRPH2 NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) SNV Pathogenic 13170 rs61755792 6:42689559-42689559 6:42721821-42721821
11 PRPH2 NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) SNV Pathogenic 13167 rs61755793 6:42689558-42689558 6:42721820-42721820
12 PRPH2 NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) SNV Pathogenic 13164 rs61755806 6:42672284-42672284 6:42704546-42704546
13 PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) SNV Pathogenic 13183 rs61755783 6:42689649-42689649 6:42721911-42721911
14 PRPH2 NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) SNV Likely pathogenic 813079 6:42672278-42672278 6:42704540-42704540
15 PRPH2 NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) SNV Likely pathogenic 623212 rs121918567 6:42672347-42672347 6:42704609-42704609
16 PRPH2 NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln) SNV Likely pathogenic 973718 6:42672170-42672170 6:42704432-42704432
17 PRPH2 NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) SNV Likely pathogenic 860907 6:42672272-42672272 6:42704534-42704534
18 PRPH2 NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile) SNV Likely pathogenic 847943 6:42672248-42672248 6:42704510-42704510
19 PRPH2 NM_000322.5(PRPH2):c.597del (p.Asn199fs) Deletion Likely pathogenic 973706 6:42672334-42672334 6:42704596-42704596
20 PRPH2 NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter) SNV Likely pathogenic 973722 6:42672348-42672348 6:42704610-42704610
21 PRPH2 NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) Deletion Likely pathogenic 866239 6:42666168-42666171 6:42698430-42698433
22 PRPH2 NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) SNV Likely pathogenic 866955 6:42689536-42689536 6:42721798-42721798
23 PRPH2 NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) SNV Likely pathogenic 13165 rs121918563 6:42689519-42689519 6:42721781-42721781
24 PRPH2 NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) SNV Uncertain significance 98698 rs61755809 6:42672273-42672273 6:42704535-42704535
25 PRPH2 NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) SNV Uncertain significance 193083 rs747893076 6:42689802-42689802 6:42722064-42722064
26 PRPH2 NM_000322.5(PRPH2):c.610T>C (p.Tyr204His) SNV Uncertain significance 866564 6:42672321-42672321 6:42704583-42704583
27 PRPH2 NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) SNV Uncertain significance 356777 rs767471467 6:42672282-42672282 6:42704544-42704544
28 PRPH2 NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) SNV Uncertain significance 98721 rs61748434 6:42666136-42666136 6:42698398-42698398

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 9.62 ROM1 RHO PRPH2 CRX
2 protein homooligomerization GO:0051260 9.4 ROM1 PRPH2
3 detection of light stimulus involved in visual perception GO:0050908 9.37 ROM1 PRPH2
4 photoreceptor cell outer segment organization GO:0035845 9.26 ROM1 PRPH2
5 protein heterooligomerization GO:0051291 9.16 ROM1 PRPH2
6 retina development in camera-type eye GO:0060041 9.13 ROM1 RHO PRPH2
7 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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