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 Biomarker disease BEFREE The current consensus threshold value for high myopia is a spherical equivalent refractive error ≤ -6.00 D. "Pathologic myopia" is proposed as the categorical term for the adverse, structural complications of myopia. 30817826 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE Although the terms high myopia and pathologic myopia are often used interchangeably, they do not refer to the same eye disease. 30391362 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE High myopia may develop to pathologic myopia, which brings severe visual impairment; however, the etiology is not fully understood. 31547036 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE Approaches to prevent myopia-related blindness should therefore attempt to prevent or delay the onset of myopia among children by increased outdoor time; retard progression from low/mild myopia to HM, through optical (e.g., defocus incorporated soft contact lens, orthokeratology, and progressive-additional lenses) and pharmacological (e.g., low dose of atropine) interventions; and/or retard progression from HM to PM through medical/surgical treatments (e.g., anti-VEGF therapies, macula buckling, and scleral crosslinking). 30707221 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE Among all the patients with different types of refractive errors, myopia was found in 47.4%, high myopia in 6.8% and pathologic myopia in 2.2%. 30209314 2018
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE High myopia and pathologic myopia are common causes of visual morbidity. 30030628 2018
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE These approaches should enable the current epidemics of myopia and high myopia to be turned around, preventing an explosion of pathologic myopia. 27617538 2017
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: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE The purpose of this study was to determine whether DNA sequence variants in the human TGIF gene are causally related to MYP2-associated high myopia. 15223781 2004
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: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Approaches to prevent myopia-related blindness should therefore attempt to prevent or delay the onset of myopia among children by increased outdoor time; retard progression from low/mild myopia to HM, through optical (e.g., defocus incorporated soft contact lens, orthokeratology, and progressive-additional lenses) and pharmacological (e.g., low dose of atropine) interventions; and/or retard progression from HM to PM through medical/surgical treatments (e.g., anti-VEGF therapies, macula buckling, and scleral crosslinking). 30707221 2019
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Myopia is a highly frequent ocular disorder worldwide and pathologic myopia is the 4th most common cause of irreversible blindness in developed countries. 30391362 2019
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE The current consensus threshold value for high myopia is a spherical equivalent refractive error ≤ -6.00 D. "Pathologic myopia" is proposed as the categorical term for the adverse, structural complications of myopia. 30817826 2019
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: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Within the pathologic myopia (PM) group (n = 521 eyes), progression of myopic maculopathy was associated with female gender (odds ratio [OR], 2.21; P = 0.001), older age (OR, 1.03; P = 0.002), longer axial length (OR, 1.20; P = 0.007), greater axial elongation (OR, 1.45; P = 0.005), and development of parapapillary atrophy (PPA; OR, 3.14; P < 0.001). 29371011 2018
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE There still seems to be no generally accepted classification of myopia and particularly not of degenerative or pathologic myopia. 29437569 2018
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Pathologic myopia described as myopia accompanied by severe deformation of the eye besides excessive elongation of eye, is usually a genetic heterogeneous disorder characterized by extreme, familial, early-onset vision loss. 28837730 2017
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Pathologic myopia (PM), a possible consequence of myopia, is estimated to affect up to 3% of the global population. 28655539 2017
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Similarly, the presence of myopic fundus lesions in addition to a high degree of myopia has been used to define pathologic myopia; however, such lesions often develop with age and they are not characteristic of pathologic myopia. 27755375 2017
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum
0.040 Biomarker disease BEFREE Posterior staphyloma in pathologic myopia. 30537538 2019
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum
0.040 Biomarker disease BEFREE The presence of posterior staphyloma, which is the most common finding in patients with pathologic myopia, is the key differentiating factor between high and pathologic myopia. 30391362 2019
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 Biomarker phenotype BEFREE Ocular alterations associated with pathologic myopia, especially those involving the macular area-defined as myopic maculopathy-are the leading causes of vision loss in patients with pathologic myopia. 30391362 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: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina
0.040 Biomarker group BEFREE Myopic maculopathy was defined according to the criteria of the Meta-analysis of Pathologic Myopia Study Group classification system. 31260519 2019