fundus dystrophy

human disease

fundus dystrophy is …
instance of (P31):
class of diseaseQ112193867

sublass of (P279):
eye diseaseQ3041498
retinal degenerationQ3043268
genetic vitreous-retinal diseaseQ55789235

External links are
P699Disease Ontology IDDOID:8501
P557DiseasesDB9580
P2888exact matchhttp://identifiers.org/doid/DOID:8501
http://purl.obolibrary.org/obo/DOID_8501
http://purl.obolibrary.org/obo/HP_0000556
http://www.orpha.net/ORDO/Orphanet_71862
P3841Human Phenotype Ontology IDHP:0000556
P1692ICD-9-CM362.75
362.72
P486MeSH descriptor IDD058499
P672MeSH tree codeC11.768.585.658
P5270Mondo IDMONDO_0019118
P1748NCI Thesaurus IDC35625
P1550Orphanet ID71862
P2892UMLS CUIC0854723

P2293genetic associationOTX2Q18030309
RDH5Q18031080
RLBP1Q18031137
RPE65Q18031223
LCA5Q18052828
P1995health specialtyophthalmologyQ161437
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686

Reverse relations

genetic association (P2293)
Q18052828LCA5
Q18030309OTX2
Q18031080RDH5
Q18031137RLBP1
Q18031223RPE65

subclass of (P279)
Q18553397Bothnia retinal dystrophy
Q4354267Senior-Loken syndrome
Q55782609X-linked retinal dysplasia
Q55781644amaurosis-hypertrichosis syndrome
Q18553385bestrophinopathy
Q18554723dystrophies primarily involving the retinal pigment epithelium
Q55785872ectopia lentis-chorioretinal dystrophy-myopia syndrome
Q55781894familial benign flecked retina
Q16570127fundus albipunctatus
Q55789318fundus pulverulentus
Q55789238genetic macular dystrophy
Q55780357helicoid peripapillary chorioretinal degeneration
Q18557955hereditary retinal dystrophy
Q32136602late-onset retinal degeneration
Q6839330microcephaly lymphoedema chorioretinal dysplasia
Q55784726microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Q10384732oligocone trichromacy
Q18966472optic atrophy associated with retinal dystrophy
Q55781371pigmented paravenous retinochoroidal atrophy
Q55782873progressive bifocal chorioretinal atrophy
Q55782273retinal degeneration-nanophthalmos-glaucoma syndrome
Q18554471retinal dystrophies primarily involving Bruch's membrane
Q18554724retinal dystrophy in systemic or cerebroretinal lipidoses
Q55784842retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Q55789237unclassified familial retinal dystrophy
Q18554722vitreoretinal dystrophy

main subject (P921)
Q34728881A fundus dystrophy with unusual features
Q28279290A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
Q77368835A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features
Q73897327A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy
Q33683363A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy
Q68091161Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy
Q35303077Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa
Q38266533Altering the clinical course of Sorsby fundus dystrophy with the use of anti-vascular endothelial growth factor intraocular therapy
Q43972229Antiangiogenic therapy in Sorsby's fundus dystrophy without a mutation in the TIMP-3 gene
Q38267565Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation
Q35239206Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
Q67578084Bietti's crystalline fundus dystrophy (author's transl)
Q88679486Bilateral choroidal neovascular membrane in a young patient with Sorsby fundus dystrophy: the value of prompt treatment
Q95407408Bilateral macular hemorrhage and retinitis pigmentosa
Q61914755CLAIR -FO: Clinical Trial of Ophthalmic Insert Mydriasert® Versus Reference Treatment
Q26799529Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby's Fundus Dystrophy
Q46418145Choroidal neovascularization in sorsby fundus dystrophy treated with photodynamic therapy and intravitreal triamcinolone acetonide
Q80155791Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin)
Q85949821Choroidal neovascularization secondary to sorsby fundus dystrophy treated with intravitreal bevacizumab
Q26767086Clinical Trials in Retinal Dystrophies
Q28365808Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism
Q21202953Cone rod dystrophies
Q63317538Efficacy Study of the DIAMOND System to Treat Type 2 Diabetes Mellitus
Q64059466Empowering Mesenchymal Stem Cells for Ocular Degenerative Disorders
Q93025590Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy
Q40753407Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis
Q73417864Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients
Q34246591Fundus dystrophy with unusual features; a histological study
Q34246317Further cases of a fundus dystrophy with unusual features
Q91325904Gene Therapy in Retinal Dystrophies
Q38053151Gene therapy in animal models of autosomal dominant retinitis pigmentosa
Q92276489Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa
Q97534006In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby Fundus Dystrophy
Q35618296Intravitreal aflibercept (Eylea) injection for cystoid macular edema secondary to retinitis pigmentosa - a first case report and short review of the literature
Q91437215LONG-TERM VISUAL ACUITY PRESERVATION IN SORSBY FUNDUS DYSTROPHY WITH CORTICOSTEROID TREATMENT
Q92639263Late-Stage Sorsby Fundus Dystrophy Manifesting Severe Vision Loss in the Absence of Choroidal Neovascularization
Q39423311Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
Q33676158Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
Q47921791Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation
Q38199019Modeling retinal dystrophies using patient-derived induced pluripotent stem cells.
Q58728893Modulation of three key innate immune pathways for the most common retinal degenerative diseases
Q93127430Molecular Strategies for RPGR Gene Therapy
Q80760485Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy
Q54103947Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with early onset retinal dystrophy and early onset retinitis pigmentosa
Q33739682Mutations in spliceosomal proteins and retina degeneration
Q28236562Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
Q28288733Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
Q37252057OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy
Q91900302Optical Coherence Tomography Angiography Assessed Retinal and Choroidal Microvasculature Features in Patients with Retinitis Pigmentosa: A Meta-Analysis
Q91534976Optical Coherence Tomography of Animal Models of Retinitis Pigmentosa: From Animal Studies to Clinical Applications
Q79411719Optical coherence tomography for assessing disease progression in sorsby fundus dystrophy
Q33715782Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
Q33587035Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family
Q26782162Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy
Q28279443Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance
Q43428829Pseudoinflammatory fundus dystrophy: a follow-up study
Q36008733RPGR: Its role in photoreceptor physiology, human disease, and future therapies.
Q42560121Ranibizumab for the management of Sorsby fundus dystrophy
Q38241625Recent advances of stem cell therapy for retinitis pigmentosa
Q93117685Retinal Prostheses and Artificial Vision
Q21203028Retinitis pigmentosa
Q28076321Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention
Q28304672Review: the history and role of naturally occurring mouse models with Pde6b mutations
Q73671811Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency
Q90113063Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy
Q61914595Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis
Q63534109Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene
Q56866629Sorsby Fundus Dystrophy
Q91404780Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism
Q35576323Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Q90712526Sorsby Pseudoinflammatory Fundus Dystrophy
Q47894945Sorsby fundus dystrophy - A review of pathology and disease mechanisms.
Q44564582Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis.
Q43008034Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment.
Q92337769Sorsby fundus dystrophy with polypoidal choroidal vasculopathy: Extending TIMP3 phenotypes
Q35315477Sorsby fundus dystrophy without a mutation in the TIMP-3 gene
Q57168304Sorsby fundus dystrophy: Insights from the past and looking to the future
Q46498563Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
Q46002279Sorsby's Fundus Dystrophy: a case report to raise awareness of the disease and potential future treatments.
Q30697455Sorsby's fundus dystrophy
Q69569261Sorsby's fundus dystrophy
Q34211400Sorsby's fundus dystrophy in a family with a Ser-181-CVS mutation in the TIMP-3 gene: poor outcome after laser photocoagulation.
Q34407470Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes
Q73444301Sorsby's fundus dystrophy in two Japanese families with unusual clinical features
Q28238247Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter
Q44174063Sorsby's fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells
Q46751935Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells
Q40752791Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix
Q77969703Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography
Q74483859Sorsby's fundus dystrophy: a literature review
Q78662649Sorsby's fundus dystrophy: what does TIMP3 tell us about general mechanisms underlying macular degeneration?
Q105088917Study of New Mutations in Cone Disorders
Q43008612Successful photodynamic therapy for subretinal neovascularisation due to Sorsby's fundus dystrophy: 1 year follow up.
Q85947594Successful treatment of choroidal neovascularization secondary to sorsby fundus dystrophy with intravitreal bevacizumab
Q73535482TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy
Q28279666TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights
Q91160882The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
Q120691188The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
Q98629083The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration
Q38843222Unilateral pigmentary retinopathy--a review of literature and case presentation
Q71039462[Fundus dystrophy and ceroid-lipofuscinosis]

Q58085727Jason M. Millerfield of workP101
Q6717114MORM syndromesymptoms and signsP780

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