MCID: FND002
MIFTS: 55

Fundus Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Fundus Dystrophy

MalaCards integrated aliases for Fundus Dystrophy:

Name: Fundus Dystrophy 12 15
Retinal Dystrophy 12 29 6
Retinal Dystrophies 43 71
Dystrophy, Retinal 39

Classifications:



External Ids:

Disease Ontology 12 DOID:8501
MeSH 43 D058499
NCIt 49 C35625
SNOMED-CT 67 314407005
UMLS 71 C0854723

Summaries for Fundus Dystrophy

MalaCards based summary : Fundus Dystrophy, also known as retinal dystrophy, is related to cone-rod dystrophy 2 and hereditary retinal dystrophy. An important gene associated with Fundus Dystrophy is TIMP3 (TIMP Metallopeptidase Inhibitor 3), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Metabolism of fat-soluble vitamins. The drugs Pharmaceutical Solutions and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Fundus Dystrophy

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

(show top 50) (show all 545)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 36.8 USH2A TULP1 TIMP3 RPGR RPE65 RHO
2 hereditary retinal dystrophy 36.7 USH2A TIMP3 RPE65 RHO PRPH2 MERTK
3 senior-loken syndrome 1 36.1 USH2A TULP1 RPGR RPE65 RHO RDH12
4 doyne honeycomb retinal dystrophy 36.0 TIMP3 PRPH2 BEST1 ABCA4
5 achromatopsia 35.5 USH2A TULP1 RPGR RPE65 RHO RDH12
6 leber congenital amaurosis 1 35.5 TULP1 RPE65 RHO RDH12 PRPH2 MERTK
7 leber congenital amaurosis 2 35.5 TULP1 RPGR RPE65 RHO RDH5 RDH12
8 leber plus disease 35.4 USH2A TULP1 RPGR RPE65 RLBP1 RHO
9 joubert syndrome 1 35.2 TULP1 RPGR RPE65 RHO RDH12 LRAT
10 stargardt disease 35.2 USH2A TULP1 RPGR RPE65 RLBP1 RHO
11 leber congenital amaurosis 4 35.2 TULP1 RPE65 RDH12 PRPH2 MERTK LRAT
12 cone-rod dystrophy 6 35.2 RPGR RPE65 RDH5 PRPH2 LRAT GUCY2D
13 leber congenital amaurosis / early-onset severe retinal dystrophy 35.0 RPE65 CEP290 AIPL1
14 leber congenital amaurosis 3 34.9 TULP1 RPE65 RDH12 LRAT GUCY2D CRX
15 leber congenital amaurosis 10 34.9 TULP1 RPGR RPE65 RDH12 GUCY2D CRX
16 leber congenital amaurosis 14 34.9 RDH12 LRAT AIPL1
17 fundus albipunctatus 34.8 TULP1 RPGR RPE65 RLBP1 RHO RDH5
18 leber congenital amaurosis 8 34.8 TULP1 RPE65 RDH12 LRAT GUCY2D CRX
19 retinoschisis 1, x-linked, juvenile 34.7 RPGR RPE65 RHO MERTK CRX CRB1
20 leber congenital amaurosis 6 34.7 TULP1 RDH12 LRAT GUCY2D CRB1 CEP290
21 macular degeneration, age-related, 1 34.4 USH2A TIMP3 RPGR RPE65 RLBP1 RHO
22 leber congenital amaurosis 7 34.3 RDH12 GUCY2D CRX CRB1 AIPL1
23 usher syndrome 34.3 USH2A TULP1 RPGR RPE65 RHO RDH12
24 enhanced s-cone syndrome 34.3 RPGR RPE65 RHO CRX AIPL1
25 leber congenital amaurosis 13 34.2 TULP1 RDH12 LRAT AIPL1
26 vitreoretinochoroidopathy 34.2 RPE65 PRPH2 BEST1 ABCA4
27 retinitis pigmentosa 7 34.2 TULP1 RPGR PRPH2 GUCA1A
28 bestrophinopathy, autosomal recessive 34.2 RPE65 RLBP1 PRPH2 CRB1 BEST1 ABCA4
29 macular dystrophy, dominant cystoid 34.2 USH2A RPE65 PRPH2 CRB1 BEST1 ABCA4
30 retinitis pigmentosa 1 34.2 RPGR RHO PRPH2 CRX
31 choroideremia 34.1 USH2A RPGR RPE65 RHO MERTK ABCA4
32 late-onset retinal degeneration 34.1 USH2A RPGR RPE65 RHO PRPH2 CRB1
33 retinal degeneration 34.0 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
34 retinal disease 34.0 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
35 retinitis pigmentosa 34.0 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
36 leber congenital amaurosis 11 34.0 RDH12 GUCY2D AIPL1
37 leber congenital amaurosis 15 34.0 TULP1 RDH12 AIPL1
38 retinitis pigmentosa 28 34.0 RPGR CRX CEP290
39 retinitis pigmentosa 19 34.0 RPGR PRPH2 ABCA4
40 bietti crystalline corneoretinal dystrophy 33.9 RPGR RPE65 ABCA4
41 newfoundland rod-cone dystrophy 33.8 RLBP1 RDH5 PRPH2 LRAT
42 congenital stationary night blindness 33.8 USH2A TULP1 RPGR RPE65 RLBP1 RHO
43 retinitis pigmentosa 35 33.8 RPGR RDH12
44 retinitis pigmentosa 38 33.8 TULP1 MERTK
45 retinitis pigmentosa 39 33.7 USH2A RPGR
46 inherited retinal disorder 33.7 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
47 cone-rod dystrophy 3 33.7 GUCY2D CRX ABCA4
48 retinitis pigmentosa 14 33.7 TULP1 RPGR
49 leber congenital amaurosis 9 33.6 TULP1 RPE65 RDH12 LRAT GUCY2D CRX
50 retinitis pigmentosa 20 33.6 RPGR RPE65

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



Diseases related to Fundus Dystrophy

Symptoms & Phenotypes for Fundus Dystrophy

GenomeRNAi Phenotypes related to Fundus Dystrophy according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.15 GUCY2D MERTK
2 Decreased viability GR00055-A-2 10.15 GUCY2D MERTK
3 Decreased viability GR00221-A-1 10.15 GUCY2D MERTK
4 Decreased viability GR00221-A-2 10.15 GUCY2D
5 Decreased viability GR00221-A-3 10.15 GUCY2D
6 Decreased viability GR00221-A-4 10.15 GUCY2D MERTK
7 Decreased viability GR00240-S-1 10.15 GUCY2D RDH5
8 Decreased viability GR00249-S 10.15 CRX GUCY2D PRPH2 TIMP3
9 Decreased viability GR00381-A-1 10.15 GUCA1A LRAT RDH5 RLBP1
10 Decreased viability GR00386-A-1 10.15 CRX GUCA1A GUCY2D LRAT PRPH2 RDH5
11 Decreased viability GR00402-S-2 10.15 BEST1 GUCY2D PRPH2 RDH12 RHO
12 Increased the percentage of infected cells GR00402-S-1 8.32 RDH12

MGI Mouse Phenotypes related to Fundus Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 AIPL1 CEP290 CRB1 CRX GUCA1A
2 cardiovascular system MP:0005385 9.96 ABCA4 CEP290 CRB1 CRX MERTK PRPH2
3 pigmentation MP:0001186 9.77 ABCA4 BEST1 CEP290 CRB1 CRX MERTK
4 vision/eye MP:0005391 9.62 ABCA4 AIPL1 BEST1 CEP290 CRB1 CRX

Drugs & Therapeutics for Fundus Dystrophy

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 Anesthetics Phase 3
3
Ranibizumab Approved Phase 2 347396-82-1 459903
4
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
5
Brinzolamide Approved Phase 2 138890-62-7 68844
6
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
7
Sodium citrate Approved, Investigational Phase 2 68-04-2
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
9 Angiogenesis Inhibitors Phase 2
10 Carbonic Anhydrase Inhibitors Phase 2
11 Mitogens Phase 1, Phase 2
12 Ophthalmic Solutions Phase 1, Phase 2
13 Anti-Bacterial Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Citrate Phase 2
16 Protective Agents Phase 2
17 Phosphodiesterase Inhibitors Phase 2
18 Phosphodiesterase 5 Inhibitors Phase 2
19 Vasodilator Agents Phase 2
20 Sildenafil Citrate Phase 2 171599-83-0
21 Antioxidants Phase 2
22
acetic acid Approved Phase 1 64-19-7 176
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
24 Trace Elements Phase 1
25 Micronutrients Phase 1
26 Vitamins Phase 1
27
Retinol acetate Phase 1 127-47-9 10245972
28 Immunologic Factors Phase 1
29 Retinol palmitate Phase 1
30 retinol Phase 1
31 Adjuvants, Immunologic Phase 1
32 Nutrients Phase 1
33 Gastrins
34 Adrenocorticotropic Hormone
35 Hormone Antagonists
36 alpha-MSH 581-05-5
37 Melanocyte-Stimulating Hormones
38 beta-Endorphin
39 Hormones
40 Insulin, Globin Zinc
41 insulin

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
2 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
3 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
4 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
5 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Completed NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
6 Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
7 An Open-label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno Associated Virus Vector for Gene Therapy of Adults And Children With Retinal Dystrophy Associated With Defects in RPE65 (LCA) Completed NCT02781480 Phase 1, Phase 2
8 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration Completed NCT00643747 Phase 1, Phase 2
9 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
10 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
11 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
12 Sildenafil for Treatment of Choroidal Ischemia Recruiting NCT04356716 Phase 2 Sildenafil
13 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
14 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
15 A Phase 1, Open Label, Repeat Dose Study to Investigate the Safety and Pharmacokinetics of 4-week Daily Dosing of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
16 Pilot Study on the Effect of Vitamin A Supplementation on Cone Function in Retinitis Pigmentosa Completed NCT00065455 Phase 1 Vitamin A
17 Observational, Follow-up Study of Adaptive Optics Retinal Imaging in Controls and During Retinal or General Diseases Unknown status NCT01546181
18 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy (Title in France: Compensation of Vision With the Intelligent Retinal Implant System (IRIS V1) in Patients With Retinal Dystrophy) Completed NCT01864486
19 Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy in the Aim of the Realisation of a Clinical Trial of Gene Therapy Completed NCT00422721
20 Optical Head-Mounted Display Technology for Low Vision Rehabilitation Completed NCT02983305
21 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
22 Effects of Subtenon-injected Autologous Platelet-rich Plasma on Visual Functions in Eyes With Retinitis Pigmentosa Completed NCT04238858
23 Clinical Efficacy of the Pinhole Soft Contact Lenses for Correcting Presbyopia Completed NCT02612584
24 A Randomised Crossover Study to Assess the Usability of Two New Vision Tests in Patients With Low Vision, and Relationship of the Measures to Daily Living Tasks. Completed NCT01876147
25 Follow-up to 5 Years of a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT02941991
26 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy Completed NCT02970266
27 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Recruiting NCT02014389
28 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2) Recruiting NCT02946879
29 Study on the Effects of Mutations Under Inherited Retinal Disease in Korean Recruiting NCT03613948
30 Establishment of the National Registry for Inherited Retinal Dystrophy in Iran Recruiting NCT04131400
31 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
32 Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD Recruiting NCT03662386
33 Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies Recruiting NCT03691168
34 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
35 iPS Cells of Patients for Models of Retinal Dystrophies Recruiting NCT03853252
36 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
37 The Role of Alpha Melanocyte Stimulating Hormone in Ocular Disease Recruiting NCT03451578
38 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Recruiting NCT03295071
39 Combined Coaxial Optical Coherence Tomography System to Image the Retina and Choroidal Structures and Estimate Tissue Reflectivity in Healthy and Diseased Retinas Recruiting NCT03843840
40 A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec Active, not recruiting NCT03597399
41 A Long-Term Follow-Up Study in Subjects Who Received an Adenovirus-Associated Viral Vector Serotype 2 Containing the Human RPE65 Gene (AAV2-hRPE65v2, Voretigene Neparvovec-rzyl) Administered Via Subretinal Injection Active, not recruiting NCT03602820
42 Natural History of the Progression of Choroideremia Study Active, not recruiting NCT03359551
43 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
44 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
45 Etude génétique Des Dilatations Des Bronches Idiopathiques en Polynésie française Not yet recruiting NCT04417777
46 Performance of Optimized Long-wavelength Fundus Autofluorescence Imaging in Patients With Retinal Diseases Not yet recruiting NCT03592017
47 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Terminated NCT03561922
48 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766
49 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

Search NIH Clinical Center for Fundus Dystrophy

Cochrane evidence based reviews: retinal dystrophies

Genetic Tests for Fundus Dystrophy

Genetic tests related to Fundus Dystrophy:

# Genetic test Affiliating Genes
1 Retinal Dystrophy 29

Anatomical Context for Fundus Dystrophy

MalaCards organs/tissues related to Fundus Dystrophy:

40
Retina, Eye, Testes, Bone, Brain, Kidney, Endothelial

Publications for Fundus Dystrophy

Articles related to Fundus Dystrophy:

(show top 50) (show all 1606)
# Title Authors PMID Year
1
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 61
31630094 2020
2
Gene editing prospects for treating inherited retinal diseases. 61
31857428 2020
3
Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis. 61
32507954 2020
4
Bull's eye maculopathy associated with hereditary hemochromatosis. 61
32258826 2020
5
Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy. 61
32535767 2020
6
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. 61
32533651 2020
7
Deciphering the natural history of SCA7 in children. 61
32558018 2020
8
The Architecture of GluD2 Ionotropic Delta Glutamate Receptor Elucidated by cryo-EM. 61
32512155 2020
9
Defining renal phenotype in Alström syndrome. 61
30307515 2020
10
A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. 61
31342828 2020
11
Phenotypic variance in Calpain-5 retinal degeneration. 61
32274441 2020
12
CRB1 related retinal degeneration with novel mutation. 61
32322752 2020
13
Associations between adult attachment and vision-related quality of life in visually impaired individuals. 61
32508123 2020
14
Late presentation of RPE65 retinopathy in three siblings. 61
31925606 2020
15
Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa. 61
32298085 2020
16
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate. 61
32467599 2020
17
Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations. 61
32375900 2020
18
Laser treatment in retinitis pigmentosa-a review. 61
32435907 2020
19
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan. 61
31872526 2020
20
Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations. 61
32416576 2020
21
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings. 61
32441891 2020
22
Functional Difficulties of Patients Seeking Low Vision Services in South India. 61
32371739 2020
23
Senior-Løken syndrome and intracranial hypertension. 61
32432520 2020
24
Pentosan polysulfate maculopathy versus inherited macular dystrophies: comparative assessment with multimodal imaging. 61
32446908 2020
25
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. 61
32312818 2020
26
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy. 61
32445700 2020
27
NGLY1 deficiency-A rare congenital disorder of deglycosylation. 61
32395402 2020
28
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. 61
32361989 2020
29
Retinoschisin and Cardiac Glycoside Crosstalk at the Retinal Na/K-ATPase. 61
32392309 2020
30
Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium. 61
30836785 2020
31
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. 61
32441177 2020
32
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies. 61
32036094 2020
33
Autoimmune retinopathy associated with monoclonal gammopathy of undetermined significance: a case report. 61
32299429 2020
34
Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up. 61
32306756 2020
35
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. 61
31704701 2020
36
Optical Coherence Tomography Analysis of Cystoid Macular Edema in Retinal Dystrophy Treated with Oral Acetazolamide: Two Cases. 61
32092772 2020
37
Retinal Structure in RPE65-Associated Retinal Dystrophy. 61
32347917 2020
38
Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy. 61
32143276 2020
39
Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. 61
31470097 2020
40
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study. 61
31734136 2020
41
Fundus autofluorescence, spectral-domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model. 61
31989709 2020
42
(Z)-7,4'-Dimethoxy-6-hydroxy-aurone-4-O-β-glucopyranoside mitigates retinal degeneration in Rd10 mouse model through inhibiting oxidative stress and inflammatory responses. 61
31648555 2020
43
RPE65 and retinal dystrophy: Report of new and recurrent mutations. 61
31957135 2020
44
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74. 61
32144365 2020
45
Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy. 61
32151065 2020
46
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. 61
32214115 2020
47
A case of pentosan polysulfate maculopathy originally diagnosed as stargardt disease. 61
32043016 2020
48
Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis. 61
32036247 2020
49
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. 61
32244552 2020
50
Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability. 61
32048102 2020

Variations for Fundus Dystrophy

ClinVar genetic disease variations for Fundus Dystrophy:

6 (show top 50) (show all 3043) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.1833+1G>ASNV Pathogenic 866602 12:48378777-48378777 12:47984994-47984994
2 CEP290 NM_025114.4(CEP290):c.6012-12T>ASNV Pathogenic 865762 12:88462434-88462434 12:88068657-88068657
3 TRPM1 NM_001252024.2(TRPM1):c.494-1G>CSNV Pathogenic 866281 15:31359391-31359391 15:31067188-31067188
4 CNGB1 NM_001297.5(CNGB1):c.1373-1G>ASNV Pathogenic 865777 16:57965783-57965783 16:57931879-57931879
5 PRPF31 NM_015629.4(PRPF31):c.698-1G>ASNV Pathogenic 866370 19:54627877-54627877 19:54124498-54124498
6 FRMD7 NM_001306193.1(FRMD7):c.239+1G>ASNV Pathogenic 866236 X:131231293-131231293 X:132097265-132097265
7 RPGR NM_000328.3(RPGR):c.934+1G>TSNV Pathogenic 865818 X:38163887-38163887 X:38304634-38304634
8 RP2 NM_006915.3(RP2):c.884-1G>ASNV Pathogenic 866273 X:46736939-46736939 X:46877504-46877504
9 CHM NM_000390.4(CHM):c.819+1G>ASNV Pathogenic 866747 X:85213865-85213865 X:85958860-85958860
10 FAM161A NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)SNV Pathogenic 35 rs267606794 2:62067454-62067454 2:61840319-61840319
11 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
12 FAM161A NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)deletion Pathogenic 37 rs397704718 2:62066783-62066784 2:61839648-61839649
13 FAM161A NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)SNV Pathogenic 38 rs202193201 2:62066572-62066572 2:61839437-61839437
14 INPP5E NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)SNV Pathogenic 399 rs121918129 9:139327014-139327014 9:136432562-136432562
15 LCA5 NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)SNV Pathogenic 968 rs121918165 6:80203353-80203353 6:79493636-79493636
16 KLHL7 NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)SNV Pathogenic 1009 rs137853113 7:23180403-23180403 7:23140784-23140784
17 BBS10 NM_024685.4(BBS10):c.271dup (p.Cys91fs)duplication Pathogenic 1328 rs549625604 12:76741493-76741494 12:76347713-76347714
18 CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
19 CEP290 NM_025114.4(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
20 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
21 IQCB1 NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)SNV Pathogenic 1830 rs121918244 3:121500619-121500619 3:121781772-121781772
22 IQCB1 NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)deletion Pathogenic 1831 rs750962965 3:121527825-121527826 3:121808978-121808979
23 RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs)deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341
24 RDH12 NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)SNV Pathogenic 2050 rs104894471 14:68191305-68191305 14:67724588-67724588
25 RDH12 NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)SNV Pathogenic 2055 rs28940315 14:68191923-68191923 14:67725206-67725206
26 RDH12 NM_152443.3(RDH12):c.377C>T (p.Ala126Val)SNV Pathogenic 2061 rs202126574 14:68192801-68192801 14:67726084-67726084
27 USH2A NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)SNV Pathogenic 2356 rs80338902 1:216420460-216420460 1:216247118-216247118
28 USH2A NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232
29 USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=)SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499
30 USH2A NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)SNV Pathogenic 2359 rs121912600 1:216497582-216497582 1:216324240-216324240
31 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
32 BEST1 NM_004183.4(BEST1):c.253T>C (p.Tyr85His)SNV Pathogenic 2728 rs28940274 11:61723195-61723195 11:61955723-61955723
33 BEST1 NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)SNV Pathogenic 2731 rs28941469 11:61724901-61724901 11:61957429-61957429
34 BEST1 NM_004183.4(BEST1):c.728C>T (p.Ala243Val)SNV Pathogenic 2737 rs28940570 11:61725631-61725631 11:61958159-61958159
35 BEST1 NM_004183.4(BEST1):c.1468_1469CA[1] (p.His490fs)short repeat Pathogenic 2739 rs281865528 11:61730094-61730095 11:61962622-61962623
36 USH2A NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs)short repeat Pathogenic 2353 rs111033367 1:216363622-216363623 1:216190280-216190281
37 BEST1 NM_004183.4(BEST1):c.256G>A (p.Val86Met)SNV Pathogenic 2744 rs121918289 11:61723198-61723198 11:61955726-61955726
38 PRPF3 NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)SNV Pathogenic 3352 rs121434241 1:150316692-150316692 1:150344216-150344216
39 PRPF8 NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg)SNV Pathogenic 3355 rs121434236 17:1554178-1554178 17:1650884-1650884
40 PRPF8 NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)SNV Pathogenic 3356 rs121434236 17:1554178-1554178 17:1650884-1650884
41 PRPF8 NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys)SNV Pathogenic 3357 rs121434238 17:1554175-1554175 17:1650881-1650881
42 CLN3 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys)SNV Pathogenic 3556 rs121434286 16:28493821-28493821 16:28482500-28482500
43 ALMS1 NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)deletion Pathogenic 3971 rs387906312 2:73799776-73799776 2:73572649-73572649
44 PRPF31 NM_015629.4(PRPF31):c.527+3A>GSNV Pathogenic 4360 rs587776590 19:54626942-54626942 19:54123563-54123563
45 BBS2 NM_031885.4(BBS2):c.646C>T (p.Arg216Ter)SNV Pathogenic 4583 rs121908180 16:56540103-56540103 16:56506191-56506191
46 CDH23 NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)SNV Pathogenic 4916 rs111033270 10:73539073-73539073 10:71779316-71779316
47 ELOVL4 NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs)deletion Pathogenic 4939 rs1131690770 6:80626476-80626480 6:79916759-79916763
48 OPA1 NM_015560.2(OPA1):c.2708_2711delTTAGdeletion Pathogenic 5082 rs80356530 3:193384957-193384960 3:193667168-193667171
49 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409
50 BBS2 NM_031885.4(BBS2):c.823C>T (p.Arg275Ter)SNV Pathogenic 4572 rs121908177 16:56536702-56536702 16:56502790-56502790

Expression for Fundus Dystrophy

Search GEO for disease gene expression data for Fundus Dystrophy.

Pathways for Fundus Dystrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 RPE65 RHO RDH5 RDH12 LRAT
2
Show member pathways
12.14 RPE65 RLBP1 RHO RDH5 RDH12 LRAT
3
Show member pathways
11.99 RPE65 RHO RDH5 RDH12 LRAT GUCY2D
4 11.53 RPE65 RLBP1 RHO RDH5 RDH12 LRAT
5 11.36 RPE65 RLBP1 RDH5 RDH12 LRAT
6
Show member pathways
10.91 RPE65 RLBP1 RHO RDH5 RDH12 LRAT

GO Terms for Fundus Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 USH2A TULP1 RPE65 RHO RDH5 RDH12
2 cell projection GO:0042995 9.86 USH2A TULP1 RPGR RHO PRPH2 GUCY2D
3 cell body GO:0044297 9.54 RPE65 RLBP1 RDH5
4 photoreceptor inner segment GO:0001917 9.5 USH2A TULP1 RHO RDH12 PRPH2 CRB1
5 photoreceptor disc membrane GO:0097381 9.46 RHO GUCY2D GUCA1A ABCA4
6 photoreceptor outer segment membrane GO:0042622 9.4 RHO GUCY2D
7 photoreceptor inner segment membrane GO:0060342 9.32 RHO RDH12
8 photoreceptor outer segment GO:0001750 9.23 TULP1 RPGR RHO PRPH2 MERTK GUCY2D

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.89 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
2 retina development in camera-type eye GO:0060041 9.8 TULP1 RPE65 RHO PRPH2 MERTK CRB1
3 retinol metabolic process GO:0042572 9.76 RPE65 RDH5 RDH12 LRAT
4 photoreceptor cell maintenance GO:0045494 9.73 USH2A TULP1 RHO RDH12 CRB1 ABCA4
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.71 RHO GUCY2D GUCA1A AIPL1
6 retinoid metabolic process GO:0001523 9.7 RPE65 RLBP1 RHO RDH5 RDH12 LRAT
7 retina homeostasis GO:0001895 9.69 TULP1 RPE65 AIPL1
8 eye photoreceptor cell development GO:0042462 9.67 TULP1 CRB1 CEP290
9 detection of light stimulus involved in visual perception GO:0050908 9.67 TULP1 RPE65 CRB1 BEST1
10 phototransduction, visible light GO:0007603 9.65 RHO AIPL1 ABCA4
11 vitamin A metabolic process GO:0006776 9.61 RPE65 RLBP1 LRAT
12 visual perception GO:0007601 9.58 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
13 cellular response to light stimulus GO:0071482 9.55 RHO CRB1
14 sensory perception of light stimulus GO:0050953 9.54 USH2A RHO
15 retina morphogenesis in camera-type eye GO:0060042 9.52 RPE65 CRB1

Molecular functions related to Fundus Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinol dehydrogenase activity GO:0004745 9.16 RDH5 RDH12
2 retinol binding GO:0019841 8.96 RLBP1 LRAT
3 11-cis retinal binding GO:0005502 8.62 RLBP1 RHO

Sources for Fundus 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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