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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)
 
Related genes: SLC4A11, GRHL2, OVOL2, ZEB1, COL8A2
 
HPO: HP:0001131
Monarch Initiative: MONDO:0018102
Orphanet: ORPHA34533

Definition

An abnormality of the cornea that is characterized by opacity of one or parts of 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 results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) 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, they 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, males with greater than 1% a-Gal A activity may have: (1) a cardiac variant phenotype that usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy and arrhythmia, and proteinuria, but without ESRD; or (2) a renal variant phenotype, associated with ESRD but without the skin lesions or pain; or (3) 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).
Corneal epithelial 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).
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
Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.
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).
Corneodermatoosseous syndrome
MedGen UID:
342260
Concept ID:
C1852542
Disease or Syndrome
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.
Corneal dystrophy, posterior polymorphous, 2
MedGen UID:
377757
Concept ID:
C1852795
Disease or Syndrome
Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
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).
Corneal dystrophy, posterior amorphous
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.
Corneal dystrophy, subepithelial mucinous
MedGen UID:
411595
Concept ID:
C2748503
Disease or Syndrome
A very rare form of superficial corneal dystrophy with characteristics of frequent recurrent corneal erosions in the first decade of life and progressive loss of vision. The condition has only been reported in one single family. Painful episodes of recurrent corneal erosions occur in the first decade of life but decrease during adolescence. Later in life, patients are reported to develop subepithelial opacities and a corneal haze. The disease eventually progresses over time leading to corneal opacities and loss of vision. The gene related to this disease has not been mapped to a particular chromosomal locus.
Corneal dystrophy, endothelial, X-linked
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.
Corneal dystrophy, lisch epithelial
MedGen UID:
411737
Concept ID:
C2749050
Disease or Syndrome
A very rare form of superficial corneal dystrophy with characteristics of feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3).
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). 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).
Meesmann corneal dystrophy 1
MedGen UID:
1684668
Concept ID:
C5231499
Disease or Syndrome
Meesmann corneal dystrophy-1 (MECD1) is a dominantly inherited disorder characterized by the presence of multitudinous microcysts within the anterior epithelium on slit lamp examination. The disorder can cause foreign body sensation and photophobia but is often asymptomatic and detected in the course of routine eye examination. Microcysts are evident even in asymptomatic individuals. Rarely, a more severe phenotype with corneal erosions and scarring can lead to significant loss of visual acuity requiring treatment by keratoplasty or corneal grafting. A subtle feature is the presence of gray serpiginous lines within the anterior epithelium (summary by Liao et al., 2011). Genetic Heterogeneity of Meesmann Corneal Dystrophy MECD2 (618767) is caused by mutation in the KRT3 gene (148043) on chromosome 12q13.

Recent clinical studies

Etiology

Nowińska A, Chlasta-Twardzik E, Dembski M, Wróblewska-Czajka E, Ulfik-Dembska K, Wylęgała E
BMC Ophthalmol 2021 Jul 23;21(1):285. doi: 10.1186/s12886-021-02041-y. PMID: 34301210Free PMC Article
Alafaleq M, Georgeon C, Grieve K, Borderie VM
Eur J Ophthalmol 2020 Sep;30(5):908-916. Epub 2019 Jul 12 doi: 10.1177/1120672119862505. PMID: 31298040
Kodavoor SK, Deb B, Ramamurthy D
Indian J Ophthalmol 2019 Nov;67(11):1830-1833. doi: 10.4103/ijo.IJO_1623_18. PMID: 31638043Free PMC Article
Nishino T, Kobayashi A, Mori N, Masaki T, Yokogawa H, Fujiki K, Yanagawa A, Murakami A, Sugiyama K
Jpn J Ophthalmol 2019 Jan;63(1):46-55. Epub 2018 Dec 7 doi: 10.1007/s10384-018-00643-6. PMID: 30535821
Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K
CEN Case Rep 2019 Feb;8(1):14-17. Epub 2018 Aug 7 doi: 10.1007/s13730-018-0356-8. PMID: 30088155Free PMC Article

Diagnosis

Nowińska A, Chlasta-Twardzik E, Dembski M, Wróblewska-Czajka E, Ulfik-Dembska K, Wylęgała E
BMC Ophthalmol 2021 Jul 23;21(1):285. doi: 10.1186/s12886-021-02041-y. PMID: 34301210Free PMC Article
You JI, Park JR, Bang SK, Kim K, Oh WY, Yu SY, Jin KH
Int Ophthalmol 2021 Aug;41(8):2695-2703. Epub 2021 Apr 15 doi: 10.1007/s10792-021-01825-x. PMID: 33856597
Abad-Morales V, Barbany M, Gris O, Güell JL, Pomares E
Cornea 2021 Mar 1;40(3):370-372. doi: 10.1097/ICO.0000000000002620. PMID: 33346999Free PMC Article
Nishino T, Kobayashi A, Mori N, Masaki T, Yokogawa H, Fujiki K, Yanagawa A, Murakami A, Sugiyama K
Jpn J Ophthalmol 2019 Jan;63(1):46-55. Epub 2018 Dec 7 doi: 10.1007/s10384-018-00643-6. PMID: 30535821
Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K
CEN Case Rep 2019 Feb;8(1):14-17. Epub 2018 Aug 7 doi: 10.1007/s13730-018-0356-8. PMID: 30088155Free PMC Article

Therapy

Kwak JJ, Yoon SH, Seo KY, Kim TI, Lee HK, Stulting RD, Kim EK
Cornea 2021 Apr;40(4):519-524. doi: 10.1097/ICO.0000000000002655. PMID: 33560675Free PMC Article
Sridhar U, Tripathy K, Bansal Y
Indian J Ophthalmol 2020 Dec;68(12):3038-3040. doi: 10.4103/ijo.IJO_975_20. PMID: 33229698Free PMC Article
Singh A, Gupta N, Ganger A, Singh D, Kashyap S, Tandon R
Exp Clin Transplant 2019 Dec;17(6):844-848. Epub 2019 Jul 19 doi: 10.6002/ect.2019.0043. PMID: 31324138
Vinciguerra P, Vinciguerra R, Randleman JB, Torres I, Morenghi E, Camesasca FI
J Refract Surg 2018 Oct 1;34(10):682-688. doi: 10.3928/1081597X-20180829-01. PMID: 30296329
Ghanem RC, Piccinini AL, Ghanem VC
J Refract Surg 2017 Jan 1;33(1):53-55. doi: 10.3928/1081597X-20161027-03. PMID: 28068448

Prognosis

You JI, Park JR, Bang SK, Kim K, Oh WY, Yu SY, Jin KH
Int Ophthalmol 2021 Aug;41(8):2695-2703. Epub 2021 Apr 15 doi: 10.1007/s10792-021-01825-x. PMID: 33856597
Kwak JJ, Yoon SH, Seo KY, Kim TI, Lee HK, Stulting RD, Kim EK
Cornea 2021 Apr;40(4):519-524. doi: 10.1097/ICO.0000000000002655. PMID: 33560675Free PMC Article
Kodavoor SK, Deb B, Ramamurthy D
Indian J Ophthalmol 2019 Nov;67(11):1830-1833. doi: 10.4103/ijo.IJO_1623_18. PMID: 31638043Free PMC Article
Vinciguerra P, Vinciguerra R, Randleman JB, Torres I, Morenghi E, Camesasca FI
J Refract Surg 2018 Oct 1;34(10):682-688. doi: 10.3928/1081597X-20180829-01. PMID: 30296329
Aggarwal S, Peck T, Golen J, Karcioglu ZA
Surv Ophthalmol 2018 Sep - Oct;63(5):609-617. Epub 2018 Mar 28 doi: 10.1016/j.survophthal.2018.03.004. PMID: 29604391

Clinical prediction guides

You JI, Park JR, Bang SK, Kim K, Oh WY, Yu SY, Jin KH
Int Ophthalmol 2021 Aug;41(8):2695-2703. Epub 2021 Apr 15 doi: 10.1007/s10792-021-01825-x. PMID: 33856597
Abad-Morales V, Barbany M, Gris O, Güell JL, Pomares E
Cornea 2021 Mar 1;40(3):370-372. doi: 10.1097/ICO.0000000000002620. PMID: 33346999Free PMC Article
Alafaleq M, Georgeon C, Grieve K, Borderie VM
Eur J Ophthalmol 2020 Sep;30(5):908-916. Epub 2019 Jul 12 doi: 10.1177/1120672119862505. PMID: 31298040
Nishino T, Kobayashi A, Mori N, Masaki T, Yokogawa H, Fujiki K, Yanagawa A, Murakami A, Sugiyama K
Jpn J Ophthalmol 2019 Jan;63(1):46-55. Epub 2018 Dec 7 doi: 10.1007/s10384-018-00643-6. PMID: 30535821
Ghanem RC, Piccinini AL, Ghanem VC
J Refract Surg 2017 Jan 1;33(1):53-55. doi: 10.3928/1081597X-20161027-03. PMID: 28068448

Recent systematic reviews

Ng SM, Ren M, Lindsley KB, Hawkins BS, Kuo IC
Cochrane Database Syst Rev 2021 Mar 23;3:CD013512. doi: 10.1002/14651858.CD013512.pub2. PMID: 33765359Free PMC Article
Rocha-de-Lossada C, Rachwani-Anil R, Colmenero-Reina E, Borroni D, Sánchez-González JM
J Cataract Refract Surg 2021 May 1;47(5):662-670. doi: 10.1097/j.jcrs.0000000000000468. PMID: 33149045
Martínez-Chacón G, Vela FJ, Campos JL, Abellán E, Yakhine-Diop SMS, Ballestín A
Mol Cell Biochem 2020 Nov;474(1-2):41-55. Epub 2020 Jul 24 doi: 10.1007/s11010-020-03832-5. PMID: 32710189
Mylona I, Tsinopoulos I, Ziakas N
Ophthalmic Res 2020;63(4):369-374. Epub 2019 Dec 23 doi: 10.1159/000505579. PMID: 31865313
Lau LC, Ma L, Young AL, Rong SS, Jhanji V, Brelen ME, Pang CP, Chen LJ
PLoS One 2014;9(10):e109142. Epub 2014 Oct 9 doi: 10.1371/journal.pone.0109142. PMID: 25299301Free PMC Article

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