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Corneal dystrophy

MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
Synonyms: Corneal Dystrophy; corneal dystrophy; corneal dystrophy (disease)
SNOMED CT: Corneal dystrophy (5587004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Mitochondrial inheritance
MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: SLC4A11, GRHL2, OVOL2, ZEB1, COL8A2
 
HPO: HP:0001131
Monarch Initiative: MONDO:0018102
Orphanet: ORPHA34533

Definition

The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. [from HPO]

Term Hierarchy

Follow this link to review classifications for Corneal dystrophy in Orphanet.

Conditions with this feature

Angiokeratoma corporis diffusum
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; renal failure, associated with ESRD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.
Schnyder crystalline corneal dystrophy
MedGen UID:
124391
Concept ID:
C0271287
Disease or Syndrome
Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013).
Lattice corneal dystrophy Type III
MedGen UID:
90939
Concept ID:
C0339273
Disease or Syndrome
Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999).
Reis-Bucklers corneal dystrophy
MedGen UID:
83284
Concept ID:
C0339278
Disease or Syndrome
Reis-Bucklers corneal dystrophy (CDRB) is an autosomal dominant disorder of the superficial corneal stroma that manifests as recurrent corneal erosions in early childhood. Affected individuals develop corneal opacities that result in significant visual impairment. Microscopically, CDRB may be differentiated from other forms of corneal dystrophy by confluent opacities in the Bowman layer and subepithelium, which are the product of extracellular bodies that stain red with Masson trichrome stain and appear as crystalloid rod-shaped bodies on transmission electron microscopy (summary by Tanhehco et al., 2006).
Francois syndrome
MedGen UID:
98151
Concept ID:
C0432288
Disease or Syndrome
Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992).
Map-dot-fingerprint corneal dystrophy
MedGen UID:
99275
Concept ID:
C0521723
Disease or Syndrome
Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by Boutboul et al., 2006).
Mulibrey nanism syndrome
MedGen UID:
99347
Concept ID:
C0524582
Disease or Syndrome
Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).
Oculodental syndrome, Rutherfurd type
MedGen UID:
163222
Concept ID:
C0796140
Disease or Syndrome
Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.
Thiel-Behnke corneal dystrophy
MedGen UID:
287070
Concept ID:
C1562894
Disease or Syndrome
Thiel-Behnke corneal dystrophy (CDTB) is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions (Thiel and Behnke, 1967).
Central cloudy dystrophy of Francois
MedGen UID:
302006
Concept ID:
C1622427
Disease or Syndrome
Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.
Macular corneal dystrophy
MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000).
Posterior polymorphous corneal dystrophy 3
MedGen UID:
322978
Concept ID:
C1836724
Disease or Syndrome
Posterior polymorphous corneal dystrophy-3 (PPCD3) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and sometimes spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is most often in the second or third decade of life. PPCD3 is often associated with corneal steepening, and some patients may be diagnosed with keratoconus before PPCD (Fernandez-Gutierrez et al., 2023). Retrocorneal membranes have been reported, sometimes extending onto the lens (Moroi et al., 2003). For a discussion of genetic heterogeneity of posterior polymorphous corneal dystrophy, see PPCD1 (122000).
Spastic ataxia-corneal dystrophy syndrome
MedGen UID:
336493
Concept ID:
C1849085
Disease or Syndrome
Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic.
Corneal-cerebellar syndrome
MedGen UID:
341379
Concept ID:
C1849087
Disease or Syndrome
Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.
Corneal dystrophy, Fuchs endothelial, 1
MedGen UID:
338172
Concept ID:
C1850959
Disease or Syndrome
Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010). Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy More common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (610206) on chromosome 20p13 (FECD4; 613268), in the ZEB1 gene (189909) on chromosome 10p11.2 (FECD6; 613270), and in the AGBL1 gene (615496) on chromosome 15q25 (FECD8; 615523). Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; 610158), 18q21.2-q21.32 (FECD3; 613267), 5q33.1-q35.2 (FECD5; 613269), and 9p (FECD7; 613271).
Posterior polymorphous corneal dystrophy 2
MedGen UID:
377757
Concept ID:
C1852795
Disease or Syndrome
Posterior polymorphous corneal dystrophy-2 (PPCD2) is characterized by formation of blister-like lesions within the corneal endothelium or by regions of endothelial basement membrane thickening with associated corneal edema. The normal amitotic endothelial cells are replaced by epithelial-like cells that possess abundant intermediate filaments, desmosomes, and microvilli. The endothelium becomes multilayered and the abnormally proliferating cells may extend outwards from the cornea over the trabecular meshwork to cause glaucoma (summary by Biswas et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of PPCD, see PPCD1 (122000).
Congenital hereditary endothelial dystrophy of cornea
MedGen UID:
387857
Concept ID:
C1857569
Congenital Abnormality
Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006).
Corneal dystrophy-perceptive deafness syndrome
MedGen UID:
387858
Concept ID:
C1857572
Disease or Syndrome
Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by Desir et al., 2007).
Corneal dystrophy, fuchs endothelial, 2
MedGen UID:
347552
Concept ID:
C1857800
Disease or Syndrome
Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
Congenital stromal corneal dystrophy
MedGen UID:
400601
Concept ID:
C1864738
Disease or Syndrome
Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Amblyopia can develop in children.
Posterior amorphous corneal dystrophy
MedGen UID:
412567
Concept ID:
C2748502
Disease or Syndrome
A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported.
X-linked endothelial corneal dystrophy
MedGen UID:
413518
Concept ID:
C2749049
Disease or Syndrome
A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive.
Lisch epithelial corneal dystrophy
MedGen UID:
411737
Concept ID:
C2749050
Disease or Syndrome
Lisch epithelial corneal dystrophy (LECD) is characterized by corneal bands of whorled, feathery, gray opacities of varying widths. The opaque bands consist of clear, densely crowded, intraepithelial blisters. Vision may be impaired if the bands involve the central cornea (Lisch et al., 1992; Lisch et al., 2000). Reviews Lisch and Weiss (2019) provided a clinical and genetic update of the corneal dystrophies. They noted that LECD shows slow progression, and may result in blurred vision if the pupillary axis is involved. Indirect illumination focusing on the corneal epithelium reveals crowded clear microcysts, which are the clinical hallmark of LECD.
Corneal dystrophy, Fuchs endothelial, 6
MedGen UID:
442478
Concept ID:
C2750448
Disease or Syndrome
Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). Patients with keratoconus have been observed (Lechner et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
Corneal dystrophy, Fuchs endothelial, 4
MedGen UID:
413309
Concept ID:
C2750450
Disease or Syndrome
Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
Corneal dystrophy, Fuchs endothelial, 8
MedGen UID:
816128
Concept ID:
C3809798
Disease or Syndrome
Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of FECD, see FECD1 (136800).
Keratosis follicularis spinulosa decalvans, X-linked
MedGen UID:
854384
Concept ID:
C3887525
Congenital Abnormality
Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
MedGen UID:
1615526
Concept ID:
C4540367
Disease or Syndrome
SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).
Corneal dystrophy, Meesmann, 1
MedGen UID:
1684668
Concept ID:
C5231499
Disease or Syndrome

Professional guidelines

PubMed

Wilson SE
J Ocul Pharmacol Ther 2023 Apr;39(3):191-206. Epub 2023 Mar 6 doi: 10.1089/jop.2022.0174. PMID: 36877777Free PMC Article
Weiss JS, Willoughby CE, Abad-Morales V, Turunen JA, Lisch W
Cornea 2022 Nov 1;41(11):1337-1344. Epub 2022 Jul 4 doi: 10.1097/ICO.0000000000002857. PMID: 36219210
Price MO, Mehta JS, Jurkunas UV, Price FW Jr
Prog Retin Eye Res 2021 May;82:100904. Epub 2020 Sep 22 doi: 10.1016/j.preteyeres.2020.100904. PMID: 32977001

Recent clinical studies

Etiology

Liu S, Sadan AN, Muthusamy K, Zarouchlioti C, Jedlickova J, Pontikos N, Thaung C, Hardcastle AJ, Netukova M, Skalicka P, Dudakova L, Bunce C, Tuft SJ, Davidson AE, Liskova P
Acta Ophthalmol 2023 Sep;101(6):679-686. Epub 2023 Mar 7 doi: 10.1111/aos.15654. PMID: 36883248
Kannabiran C, Chaurasia S, Ramappa M, Mootha VV
Indian J Ophthalmol 2022 Jul;70(7):2239-2248. doi: 10.4103/ijo.IJO_992_22. PMID: 35791103Free PMC Article
Lisch W, Weiss JS
Exp Eye Res 2020 Sep;198:108139. Epub 2020 Jul 26 doi: 10.1016/j.exer.2020.108139. PMID: 32726603
Lauwen S, de Jong EK, Lefeber DJ, den Hollander Al
Invest Ophthalmol Vis Sci 2017 May 1;58(6):BIO88-BIO98. doi: 10.1167/iovs.17-21809. PMID: 28525563
Weiss JS
Curr Opin Ophthalmol 2009 Jul;20(4):292-8. doi: 10.1097/ICU.0b013e32832b753e. PMID: 19398911

Diagnosis

Panthagani J, MacDonald T, Bruynseels A, Madathilethu SC, Jenyon T
Br J Hosp Med (Lond) 2022 Jul 2;83(7):1-13. Epub 2022 Jul 11 doi: 10.12968/hmed.2021.0237. PMID: 35938757
Ong Tone S, Kocaba V, Böhm M, Wylegala A, White TL, Jurkunas UV
Prog Retin Eye Res 2021 Jan;80:100863. Epub 2020 May 8 doi: 10.1016/j.preteyeres.2020.100863. PMID: 32438095Free PMC Article
Bourges JL
J Fr Ophtalmol 2017 Jun;40(6):e177-e192. Epub 2017 Jun 3 doi: 10.1016/j.jfo.2017.05.003. PMID: 28583694
Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, Sutphin J, Busin M, Labbé A, Kenyon KR, Kinoshita S, Lisch W
Cornea 2015 Feb;34(2):117-59. doi: 10.1097/ICO.0000000000000307. PMID: 25564336
Weiss JS
Curr Opin Ophthalmol 2009 Jul;20(4):292-8. doi: 10.1097/ICU.0b013e32832b753e. PMID: 19398911

Therapy

Singh NK, Sahu SK
Semin Ophthalmol 2023 Jan;38(1):9-14. Epub 2022 Aug 21 doi: 10.1080/08820538.2022.2112698. PMID: 35993293
Patel SV
Cornea 2021 Dec 1;40(12):1505-1511. doi: 10.1097/ICO.0000000000002738. PMID: 34074894
Fadel D, Kramer E
Cont Lens Anterior Eye 2019 Feb;42(1):92-103. Epub 2018 Nov 2 doi: 10.1016/j.clae.2018.10.024. PMID: 30392894
Bourges JL
J Fr Ophtalmol 2017 Jun;40(6):e177-e192. Epub 2017 Jun 3 doi: 10.1016/j.jfo.2017.05.003. PMID: 28583694
Woreta FA, Davis GW, Bower KS
Surv Ophthalmol 2015 Mar-Apr;60(2):115-22. Epub 2014 Aug 23 doi: 10.1016/j.survophthal.2014.08.003. PMID: 25307289

Prognosis

Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina-Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar-Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot 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