부산대학교 도서관

Purpose: Our purpose was to evaluate visual acuity in aniridia subjects and the more severely affected phenotype in WAGR syndrome subjects, and to assess potential impact on visual function. Materials and Methods: This was a retrospective comparative study of 25 aniridia subjects with nonsense mutations of PAX6 (50 eyes) and 25 WAGR syndrome subjects with large deletion mutations involving PAX6 (50 eyes). Aniridia subjects were age- and gender-matched with WAGR syndrome subjects in the Coordination of Rare Diseases at Sanford (CoRDS) database. Best-corrected ETDRS visual acuity measurements were converted to LogMAR visual acuity values, which were used to perform statistical analyses. Results: The age and gender distribution of the subjects was not statistically significantly different. The mean LogMAR values in aniridia and WAGR syndrome subjects were 0.95 [+ or -] 0.53 and 1.51 [+ or -] 0.99, respectively (P Conclusion: Visual acuity was significantly worse in WAGR subjects with multi- gene deletion mutations compared with aniridia subjects with nonsense mutations, which corresponded to differences in standard visual function thresholds. Our results suggest that visual acuity may indicate severity of ocular involvement and variability of phenotype in aniridia and WAGR syndrome. Keywords: aniridia, WAGR syndrome, WAGR spectrum, PAX6, visual impairment, blindness
Introduction Aniridia is a panocular congenital malformation of the eye featuring complete or partial iris hypoplasia and foveal hypoplasia, resulting in reduced visual acuity. (1) Glaucoma, cataract and keratopathy also [...]