Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.

BACKGROUND: Keratoconus (KC) is characterized by pathological thinning and bulging of the cornea that may lead to visual impairment. The etiology of sporadic KC remains enigmatic despite intensive research in recent decades. The purpose of this study was to examine the relationship between previously highlighted genetic variants associated with KC and sporadic KC in a Swedish cohort. METHODS: A total of 176 patients (age 16-70 years) with sporadic KC diagnosed by Scheimpflug-topography (Pentacam) were included. The control group (n = 418; age 70 years) was a subsample originating from the Gothenburg H70 Birth Cohort Studies of ageing. Extraction of DNA from blood samples was performed according to standard procedures, and genotyping was performed using competitive allele specific PCR (KASP) technology. A total of 11 single nucleotide polymorphisms (SNPs) were selected for analysis. RESULTS: Statistically significant associations (p = 0.005) were found between the SNPs rs2721051 and rs9938149 and sporadic KC. These results replicate earlier research that found associations between genetic variants in the FOXO1 and BANP-ZNF469 genes and sporadic KC in other populations. CONCLUSION: Genetic variations in the FOXO1 and BANP-ZNF469 genes may be involved in the pathogenesis of sporadic KC.

[Xerophthalmia in a 7-year-old autistic child]. / Xeroftalmi ­ tidig diagnos kan hindra irreversibla ögonskador.

Vitamin A deficiency and xerophthalmia is a rare finding in developed countries. We report a severe case of xerophthalmia in a 7-year-old autistic child with restricted diet. Both eyes had Bitot's spots and ulceration. The right cornea had a perforation at admission. After treatment with high doses of vitamin A the right cornea epithelialized with formation of the anterior chamber and the left eye healed completely. This case adds to the increasing number of reports on cases of xerophthalmia particularly in autistic children and highlights the importance of considering vitamin A deficiency in patients with risk of malnutrition also in developed countries.

Repeated Same-Day Versus Single Tomography Measurements of Keratoconic Eyes for Analysis of Disease Progression.

PURPOSE: Corneal tomography is used to assess progression of keratoconus and to direct clinical decisions regarding corneal cross-linking. The purpose of this study was to analyze the variability of repeated Scheimpflug-tomography (Pentacam Classic; Oculus, Wetzlar, Germany) measurements of keratoconic eyes in a clinical setting and to assess the validity of such measurements as a clinical decision-making tool. METHODS: Eighty keratoconic eyes of 45 patients (age range 16-32 years) were examined at baseline and after follow-up periods of 3 to 6 months using 3 consecutive tomography measurements at each visit. Minimum corneal thickness and anterior sagittal curvature map parameters were studied [simulated keratometry (K) astigmatism (SimKast); maximum simulated K-reading (SimKmax); average SimK (SimKave); maximum K-readings on the 3-mm (Kmax3) and 5-mm (Kmax5) rings; and maximum K-reading (Kmax)]. RESULTS: When comparing the first measurements at the first and second visits, respectively, 9% to 20% of eyes were classified as progressive depending on which parameter was chosen. Using the average of 3 consecutive measurements at each visit, 5% to 19% of eyes were classified as progressive. An increase in the SD of 3 consecutive measurements of SimKast (SD_SimKast) at the first visit of 1 diopter makes true progression of keratoconus 3.6 times more likely (odds ratio = 3.6; 95% confidence interval: 0.846-16.027; area under the curve = 0.70). CONCLUSIONS: The approach used to analyze progression in keratoconus, that is, single versus repeated measurements, may confer a great impact on the decision to perform corneal cross-linking treatment or not.