Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits

Abstract

ABSTRACT.Purpose: A possible association has been reported between exfoliation syndrome (EX) and various ocular and systemic vascular disorders; however, it is unclear if there is an association between EX and central retinal vein occlusion (CRVO). Because latent deposits of exfoliation materials might not be recognized during slit-lamp examination, an ocular biopsy is required to establish a precise diagnosis. We evaluated a possible association between EX and CRVO using lysyl oxidase-like 1 (LOXL1) gene variants as alternative markers for EX. Methods: The allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined in 68 consecutive Japanese patients with CRVO [15 with exfoliation syndrome (EX+) and 53 without exfoliation syndrome (EXÀ)] and 90 control patients with cataract without EX (CT). Results: The frequencies of the rs1048661 and rs3825942 variants showed borderline difference between the CRVO and CT groups (p = 0.04085 and p = 0.06088, respectively, for allelic frequencies, and p = 0.06838 and p = 0.03482, respectively, for genotypic frequencies). Compared with the CT group, subgroup analysis showed that the CRVO EX+ group had significant differences in the allelic and genotypic frequencies of rs1048661 (p = 0.0006447 and p = 0.0001392, respectively) and had borderline differences in the allelic and genotypic frequencies of rs3825942 (p = 0.03403 and p = 0.07341, respectively), while the CRVO EXÀ group did not (p = 0.1324-0.6306). Subgroup analysis showed that the frequencies of rs2165241 did not differ between the CRVO and CT groups. Conclusions: When the LOXL1 variants were used as disease markers for clinically undetectable EX, there was no association between CRVO and EX. The results suggested that the LOXL1 variants, which are well-established markers for EX, are not likely genetic markers for CRVO in Japanese subjects.

Myeloblasts transition to megakaryoblastic immunophenotypes over time in some patients with myelodysplastic syndromes

“…Genomic DNA was extracted from aspirated BM cells or PB in the seven cases described in the MDF section. The DNA were analyzed for TP53 mutations by direct sequence analysis as previously described at the laboratory of the Faculty of Medicine, Shimane University [ 18 , 19 ]. Briefly, DNA was amplified by polymerase chain reaction using primers for exons 4–9.…”

Comparisons of retinal vessel diameter and glaucomatous parameters between both eyes of subjects with clinically unilateral pseudoexfoliation syndrome

“…In a study of patients with unilateral PEX, 32% progressed to glaucoma, with a mean conversion time of 2.8 years[6]. A clinical observational study of consecutive central retinal vein occlusion cases reported a high prevalence rate of PEX (22% in 15 eyes)[7]. The presence of PE was reported to be a likely risk factor for retinal vascular occlusive disorders[7–9], decreased ocular arterial blood flow velocities, and increased vascular resistance[10].…”

“…A clinical observational study of consecutive central retinal vein occlusion cases reported a high prevalence rate of PEX (22% in 15 eyes)[7]. The presence of PE was reported to be a likely risk factor for retinal vascular occlusive disorders[7–9], decreased ocular arterial blood flow velocities, and increased vascular resistance[10]. PE has been found in various ocular blood vessels, e.g., the walls of iris vessels, posterior ciliary arteries, vortex veins, and central retinal vessels[11, 12].…”