Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 GeneticVariation disease BEFREE A recent linkage analysis of seven families with autosomal dominant high myopia has identified one locus (MYP2) for high myopia on chromosome 18p11.31 (Young et al.: Am J Hum Genet 1998;63:109-119). 11449316 2001
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 GeneticVariation disease BEFREE A genomic interval of 2.2 centiMorgans (cM) was defined on chromosome band 18p11.31 using 7 families diagnosed with autosomal dominant high myopia and was designated the MYP2 locus. 15723005 2005
CUI: C0027092
Disease: Myopia
Myopia
0.090 GeneticVariation disease BEFREE The most common macular disorders were an epiretinal membrane (n = 130), myopia atrophy (n = 61) and a dome-shaped macular with pathologic myopia (n = 32). 29572456 2018
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum
0.040 GeneticVariation disease BEFREE Preoperative OCT examination resulted in the exclusion of 8 eyes in 4 patients with bilateral posterior staphyloma diagnosing unexpected staphylomatous macular patterns in 2 patients with RP and no sign of pathologic myopia. 28009400 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.040 GeneticVariation disease BEFREE Particularly, age-related macular degeneration (AMD) and pathologic myopia (PM) are the most frequent diseases related to CNV development. 20887247 2011
CUI: C0456909
Disease: Blindness
Blindness
0.040 GeneticVariation phenotype BEFREE Myopic submacular hemorrhage (SMH) usually arises from either a break in Bruch's membrane (lacquer cracks) that damages the underlying choriocapillaris or the development of a choroidal neovascular membrane (CNVM) at the sites of prior lacquer cracks.1,2 In pathologic myopia (PM), axial elongation leads to thinning of the choroid and retinal pigment epithelium, predisposing to rupture of Bruch's membrane.3 If large hemorrhages involving the fovea are left untreated, subretinal hemorrhage and CNVM can cause devastating long-term vision loss due to irreversible retinal atrophy.4 In this video, the authors describe their technique of using a subretinal injection of recombinant tissue plasminogen activator with a concurrent gas tamponade to displace SMH. 30998250 2019
CUI: C0456909
Disease: Blindness
Blindness
0.040 GeneticVariation phenotype BEFREE The burden of myopia is tremendous, as adults with HM are more likely to develop pathologic myopia (PM) changes that can lead to blindness. 30707221 2019
CUI: C3665926
Disease: Myopic choroidal neovascularization
Myopic choroidal neovascularization
0.040 GeneticVariation disease BEFREE Diagnosis and treatment guideline for myopic choroidal neovascularization due to pathologic myopia. 29111299 2018
CUI: C3665926
Disease: Myopic choroidal neovascularization
Myopic choroidal neovascularization
0.040 GeneticVariation disease BEFREE Real-world data on ranibizumab for myopic choroidal neovascularization due to pathologic myopia: results from a post-marketing surveillance in Japan. 30158574 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.030 GeneticVariation disease BEFREE Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia. 27995965 2016
Exudative age-related macular degeneration
0.030 GeneticVariation disease BEFREE Choroidal neovascularization (CNV) in adults is most commonly associated with neovascular age-related macular degeneration (AMD) and pathologic myopia. 30727875 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.030 GeneticVariation phenotype BEFREE Myopic submacular hemorrhage (SMH) usually arises from either a break in Bruch's membrane (lacquer cracks) that damages the underlying choriocapillaris or the development of a choroidal neovascular membrane (CNVM) at the sites of prior lacquer cracks.1,2 In pathologic myopia (PM), axial elongation leads to thinning of the choroid and retinal pigment epithelium, predisposing to rupture of Bruch's membrane.3 If large hemorrhages involving the fovea are left untreated, subretinal hemorrhage and CNVM can cause devastating long-term vision loss due to irreversible retinal atrophy.4 In this video, the authors describe their technique of using a subretinal injection of recombinant tissue plasminogen activator with a concurrent gas tamponade to displace SMH. 30998250 2019
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy
0.030 GeneticVariation disease BEFREE Lacquer cracks detected in rge chicks subsequently progressed to patchy chorioretinal atrophy, which is also commonly seen in patients with pathologic myopia. 30586351 2019
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
0.020 GeneticVariation disease BEFREE Amniotic membrane for retinal detachment due to paravascular retinal breaks over patchy chorioretinal atrophy in pathologic myopia. 31766876 2020
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 GeneticVariation group BEFREE Myopic retinopathy was defined according to the Pathologic Myopia Study Group. 27860316 2017
CUI: C0154841
Disease: Central retinal vein occlusion
Central retinal vein occlusion
0.010 GeneticVariation disease BEFREE Aqueous humour from eyes with central retinal vein occlusion (CRVO), branch retinal vein occlusion (BRVO), diabetic macular oedema (DME), neovascular age-related macular degeneration (nAMD) or pathologic myopia associated choroidal neovascularization (pmCNV) was sampled prior to 1st (n = 144) and 2nd (n = 48) intravitreal anti-VEGF therapy. 31531945 2019
Choroidal retinal neovascularization
0.010 GeneticVariation phenotype BEFREE Myopic submacular hemorrhage (SMH) usually arises from either a break in Bruch's membrane (lacquer cracks) that damages the underlying choriocapillaris or the development of a choroidal neovascular membrane (CNVM) at the sites of prior lacquer cracks.1,2 In pathologic myopia (PM), axial elongation leads to thinning of the choroid and retinal pigment epithelium, predisposing to rupture of Bruch's membrane.3 If large hemorrhages involving the fovea are left untreated, subretinal hemorrhage and CNVM can cause devastating long-term vision loss due to irreversible retinal atrophy.4 In this video, the authors describe their technique of using a subretinal injection of recombinant tissue plasminogen activator with a concurrent gas tamponade to displace SMH. 30998250 2019
CUI: C0339505
Disease: Venous retinal branch occlusion
Venous retinal branch occlusion
0.010 GeneticVariation disease BEFREE Aqueous humour from eyes with central retinal vein occlusion (CRVO), branch retinal vein occlusion (BRVO), diabetic macular oedema (DME), neovascular age-related macular degeneration (nAMD) or pathologic myopia associated choroidal neovascularization (pmCNV) was sampled prior to 1st (n = 144) and 2nd (n = 48) intravitreal anti-VEGF therapy. 31531945 2019
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
0.010 GeneticVariation disease BEFREE The most common macular disorders were an epiretinal membrane (n = 130), myopia atrophy (n = 61) and a dome-shaped macular with pathologic myopia (n = 32). 29572456 2018
CUI: C0730271
Disease: Myopic macular degeneration
Myopic macular degeneration
0.010 GeneticVariation disease BEFREE We carried out a literature review (September 2015) of all English-language articles in PubMed resulting from searches of the following terms: "choroidal neovascularization" AND "myopia" OR "myopic macular degeneration" OR "degenerative myopia" OR "myopic maculopathy" OR "myopic retinopathy" OR "pathological myopia" OR "pathologic myopia." 28655539 2017
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema
0.010 GeneticVariation disease BEFREE Aqueous humour from eyes with central retinal vein occlusion (CRVO), branch retinal vein occlusion (BRVO), diabetic macular oedema (DME), neovascular age-related macular degeneration (nAMD) or pathologic myopia associated choroidal neovascularization (pmCNV) was sampled prior to 1st (n = 144) and 2nd (n = 48) intravitreal anti-VEGF therapy. 31531945 2019
CUI: C0730321
Disease: Punctate inner choroidopathy
Punctate inner choroidopathy
0.010 GeneticVariation disease BEFREE The etiologies were idiopathic CNV (ICNV, 43.9%), pathologic myopia (PM, 21.9%), punctate inner choroidopathy (PIC, 17.4%), polypoidal choroidal vasculopathy (4.4%), multifocal choroiditis with panuveitis (3.6%), and other disorders (8.8%). 30153680 2019
Choroidal neovascular membrane (disorder)
0.010 GeneticVariation disease BEFREE Myopic submacular hemorrhage (SMH) usually arises from either a break in Bruch's membrane (lacquer cracks) that damages the underlying choriocapillaris or the development of a choroidal neovascular membrane (CNVM) at the sites of prior lacquer cracks.1,2 In pathologic myopia (PM), axial elongation leads to thinning of the choroid and retinal pigment epithelium, predisposing to rupture of Bruch's membrane.3 If large hemorrhages involving the fovea are left untreated, subretinal hemorrhage and CNVM can cause devastating long-term vision loss due to irreversible retinal atrophy.4 In this video, the authors describe their technique of using a subretinal injection of recombinant tissue plasminogen activator with a concurrent gas tamponade to displace SMH. 30998250 2019
CUI: C1533060
Disease: Multifocal choroiditis
Multifocal choroiditis
0.010 GeneticVariation disease BEFREE The etiologies were idiopathic CNV (ICNV, 43.9%), pathologic myopia (PM, 21.9%), punctate inner choroidopathy (PIC, 17.4%), polypoidal choroidal vasculopathy (4.4%), multifocal choroiditis with panuveitis (3.6%), and other disorders (8.8%). 30153680 2019
CUI: C1834531
Disease: MYOPIA 2 (disorder)
MYOPIA 2 (disorder)
0.010 GeneticVariation disease BEFREE Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. 15723005 2005