Gene therapy in keratoconus

Farjadnia, Mahgol; Naderan, Mohammad; Mohammadpour, Mehrdad

doi:10.4103/0974-620x.149854

Cited by 10 publications

(5 citation statements)

References 69 publications

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“… 6 , 7 , 8 Studies in twins and dizygotic and monozygotic comparisons and observing concordance in dizygotic twins indicate the genetic influence in the incidence of disease. 17 , 192 , 193 Linkage analysis in families can help detect patterns showing which chromosome region is modified 194 which exist at least in candidate genetic loci19 195 and another linkage locus such as locus chr5q32-33, chr14q11.2, chr16q22.3-q23.1. 196 , 197 Genome studies can find highly complex genetic factors associated with keratoconus; ZNF469 was found in 23% of sporadic Keratoconus 198 and seems to play an important role in disease progression.…”

Section: Methodsmentioning

confidence: 99%

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Updates on Managements for Keratoconus

Mohammadpour

Heidari

Hashemi

2018

Journal of Current Ophthalmology

Self Cite

101

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PurposeKeratoconus is a progressive disease of the cornea which can lead to blindness as irregular astigmatism increases. Currently, a variety of methods are available for the treatment of keratoconus, and in certain cases, it may be difficult to choose the most appropriate option. This article reviews available treatment modalities for keratoconus to provide the practitioner with practical and useful information for selecting the most suitable option for each individual patient.MethodsTo review treatment methods for different stages of keratoconus, PubMed (United States National Library of Medicine) and Scopus (Elsevier BV) databases were searched using the keywords “keratoconus”, “contact lens”, “cross-linking”, “Intacs”, “keratoplasty”, “gene therapy”, and “irregular astigmatism”, and related articles were reviewed based on disease assessment parameters and treatment methods.ResultsVarious methods are available for the treatment of keratoconus: eyeglasses and contact lenses in the early stages, cross-linking for stabilizing disease progression, intrastromal corneal ring segments (ICRS) for reducing refractive errors or flattening the cornea, and penetrating keratoplasty (PK) and deep anterior lamellar keratoplasty (DALK), conductive keratoplasty, gene therapy and more recently, bowman layer transplantation (BL transplantation) in advanced stages of the disease. To achieve optimum results, it is essential to choose the best option for each individual patient.ConclusionsA commonality of the reviewed papers was the advancement of novel diagnostic and treatment methods in ophthalmology, which can delay the need for corneal grafting. A better understanding of keratoconus treatment options can help enhance visual rehabilitation and prevent blindness in keratoconus patients.

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Section: Methodsmentioning

confidence: 99%

“…199 In gene therapy, the gene of interest is delivered into the target cell using a vector and genetic expression begins with protein synthesis. 194 Gene therapy can be a very promising and effective way to change the course of the disease upon identifying pathogenic genes and changing the structure of cell proteins.…”

Section: Methodsmentioning

confidence: 99%

Updates on Managements for Keratoconus

Mohammadpour

Heidari

Hashemi

2018

Journal of Current Ophthalmology

Self Cite

101

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“…One of the disadvantages of linkage analysis is the possibility of “phenocopies” and reduced penetrance in any given KC pedigree. The inclusion of individuals with simple astigmatism, thin corneas without ectasia, or borderline (forme fruste) KC disease is also controversial [ 33 ]. Another point in case is that despite the typical age of KC onset in the second decade of life, onset has been reported over the age of 50 years [ 34 ].…”

Section: Linkage Analysismentioning

confidence: 99%

Genetics in Keratoconus – What is New?

Moussa¹,

Grabner²,

Ruckhofer³

et al. 2017

TOOPHTJ

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Background:Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease.Conclusion:The review focuses on current knowledge of these genetic risk factors associated with keratoconus.

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“…Many reviews have previously summarized the genetic studies linked to KC incidence [ 18 , 19 ], whereas others have discussed the various advances in treatment modalities [ 20 , 21 ]. Despite recent advances in KC research, the molecular and pathological mechanisms of KC still remain unclear.…”

Section: Introductionmentioning

confidence: 99%

Molecular and Histopathological Changes Associated with Keratoconus

Khaled

Helwa

Drewry

et al. 2017

BioMed Research International

112

101

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Keratoconus (KC) is a corneal thinning disorder that leads to loss of visual acuity through ectasia, opacity, and irregular astigmatism. It is one of the leading indicators for corneal transplantation in the Western countries. KC usually starts at puberty and progresses until the third or fourth decade; however its progression differs among patients. In the keratoconic cornea, all layers except the endothelium have been shown to have histopathological structural changes. Despite numerous studies in the last several decades, the mechanisms of KC development and progression remain unclear. Both genetic and environmental factors may contribute to the pathogenesis of KC. Many previous articles have reviewed the genetic aspects of KC, but in this review we summarize the histopathological features of different layers of cornea and discuss the differentially expressed proteins in the KC-affected cornea. This summary will help emphasize the major molecular defects in KC and identify additional research areas related to KC, potentially opening up possibilities for novel methods of KC prevention and therapeutic intervention.

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Gene therapy in keratoconus

Cited by 10 publications

References 69 publications

Updates on Managements for Keratoconus

Updates on Managements for Keratoconus

Genetics in Keratoconus – What is New?

Molecular and Histopathological Changes Associated with Keratoconus

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