A model of visual limitation in patients with keratoconus

Background: ALDH3A1 protein is important in maintaining corneal physiology and protecting the eye from UV damage. However, none of the genome-wide association studies has indicated that the ALDH3A1 locus is associated with keratoconus. In this study, we examined the potential role of ALDH3A1 variants as risk factors for keratoconus incidence and severity in a large group of Polish keratoconus patients. Methods: In the first stage we analyzed the coding region sequence of the ALDH3A1 in a subgroup of keratoconus. Then, we genotyped three selected ALDH3A1 variants in a larger KC group of patients (n = 261) and healthy controls (n = 317). Results: We found that the rs1042183 minor allele A is a risk factor for keratoconus in the dominant model (OR = 2.06, 95%CI = 1.42–2.98, p = 0.00013). The rs2228100 variant genotypes appear to be associated with an earlier age of KC diagnosis in the Polish population (p = 0.055 for comparison of three genotypes and p = 0.022 for the dominant inheritance model). Conclusions: The rs1042183 variant in ALDH3A1 is associated with keratoconus risk in the Polish population. The differences in the allele frequency between both populations could be partially responsible for the difference in the disease prevalence.

show abstract

“…Elevated corneal steepness is a hallmark feature of KC. Thus, a protection potential of the AA genotype in KC cannot be excluded [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population

Berdyński

Krawczyk

Safranow

et al. 2021

JCM

View full text Add to dashboard Cite

show abstract

“…These include an increase in maximum corneal curvature by 1 D over a year [ 16 ], increase in astigmatism by 1–3 DC over 6 months, and reduction in central corneal thickness by 5% over 6 months [ 17 ]. Previous studies have demonstrated variable correlation of best-corrected visual acuity with these parameters, with contrast sensitivity again showing a better correlation [ 18 , 19 ]. However, monitoring clinical progression requires specialist imaging equipment, and therefore regular visits to an eye care professional are required.…”

Section: Introductionmentioning

confidence: 99%

A novel tool for quantitative measurement of distortion in keratoconus

Joshi

Voison

Piano

et al. 2022

Eye

View full text Add to dashboard Cite

Background Keratoconus is associated with thinning and anterior protrusion of the cornea resulting in the symptoms of blurry and distorted vision. The commonly used clinical vision tests such as visual acuity and contrast sensitivity may not reflect the symptoms experienced in keratoconus and there are no quantitative tools to measure visual distortion. In this study, we used a quantitative test based on vernier alignment and field matching techniques to quantify visual distortion in keratoconus and assess its relation to corneal structural changes. Methods A total of 50 participants (25 keratoconus and 25 visually normal) completed the experiment where they aligned supra-threshold white target circles in opposite field in reference to guidelines and circles to complete a square structure monocularly. The task was repeated five times and the global distortion index (GDI) and global uncertainty index (GUI) were calculated as the mean and standard deviation respectively of local perceived misalignment of target circles over five trials. Results Both GDI and GUI were higher in participants with keratoconus compared to controls ( p < 0.01). Both parameters correlated with the best corrected visual acuity, maximum corneal curvature (K max ), topographical keratoconus classification (TKC) and central corneal thickness (CCT). Conclusion Our findings show that the quantitative measure of distortion could be a useful tool for behavioural assessment of progressive keratoconus.

show abstract