scholarly journals Molecular Genetics of Keratoconus: Clinical Implications

Author(s):  
Yu Meng Wang ◽  
Calvin C.P. Pang

Occurrence of keratoconus is pan-ethnic with reported prevalence ranging widely from 1:400 to about 1:8000, higher in Asian than Western populations. Its genetics is complex with undefined pattern of inheritance. Familial traits are also known. More than 50 gene loci and 200 variants are associated with keratoconus, some through association studies with quantitative traits of cornea features including curvature and central thickness. Environmental, behavioral, and epigenetic factors are also involved in the etiology, likely interactively with genetic susceptibility. Regardless of sex and age of disease onset, clinical courses and responses to treatment vary. Keratoconus is a major cause of cornea transplantation and is potentially blinding. Currently collagen cross-linking provides effective treatment although responses from some patients can be unpredictable with complications. Early diagnosis is vital to obtain good treatment outcome, but in many patients early signs and symptoms are not obvious. While there are potential biomarkers, reliable pre-symptomatic detection and prediction of treatment response may require multitude of gene variants, cornea properties, and external risk factors.


Author(s):  
Jamyl Habib Castillo ◽  
Beatrice Tiosano ◽  
Rana Hanna ◽  
Eran Berkwitz

ABSTRACT Keratoconus (KC) is a bilateral noninflammatory, ectatic corneal disorder. It is the most common primary ectasia affecting approximately 1 in 2,000 in the general population. Classically, the disease starts in puberty and progresses throughout the 3rd or 4th decades of life. Ocular signs and symptoms vary depending on disease severity. As the disease progresses, approximately 20% of KC eyes require penetrating keratoplasty. Collagen cross-linking (CXL) with ultraviolet-A (UVA) light and riboflavin is a new treatment that has emerged in the recent years. It is reported to slow the progression of the disease in its early stages, by increasing corneal rigidity and biomechanical stability. As the number of adult KC patients treated using this procedure grew, proving its safety and high efficacy, the pediatric KC patients population has started to receive special attention. In the pediatric KC patients’ eyes, corneas have been shown to be significantly steeper at the time of diagnosis compared to adults, and the severity of KC seems inversely correlated with age. Since treating KC in earlier age may be beneficiary, before developing an advanced disease that may require corneal transplantation, CXL in the pediatric age group has been advocated by many practitioners. The aim of this review is to collect and consolidate all known data regarding the efficacy and safety of CXL in the pediatric population. How to cite this article Hanna R, Berkwitz E, Castillo JH, Tiosano B. Collagen Cross-linking for the Treatment of Keratoconus in Pediatric Patients. Int J Kerat Ect Cor Dis 2015;4(3):94-99.







Diabetes ◽  
1985 ◽  
Vol 34 (7) ◽  
pp. 703-705 ◽  
Author(s):  
J. R. Williamson ◽  
K. Chang ◽  
E. Rowold ◽  
J. Marvel ◽  
M. Tomlinson ◽  
...  


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