Characteristics of myelinated retinal nerve fibres in associated straatsma syndrome.

PURPOSE:To study cases diagnosed of myelinated retinal nerve fibres (MRNF) continuous with the optic disc and describe the plausible pathogenic mechanism for the ocular features in Straatsma syndrome. METHODS:This retrospective observational study includes clinically diagnosed MRNF cases. MRNF, myopia, and amblyopia defined Straatsma syndrome. MRNF were classified into three types based on location: type 1 in the superior retina, type 2 in the superior and inferior retina, and type 3 in the inferior retina. MRNF size was measured on Optomap® (Optos, Daytona, UK) images and posterior staphyloma location was noted. Demographics and best-corrected refractive error in logMAR units was recorded. Descriptive statistics and Spearman's corelation test were used to analyse MRNF size's relationship to refractive error and logMAR visual acuity. RESULTS:The study included a total of 19 MRNF eyes from 18 patients. Seventeen (89%) eyes had Straatsma syndrome. Median age was 23.50 [range: 4-75] years. One (6%) patient exhibited bilateral presentation. The median logMAR visual acuity was 0.4 log units (interquartile range: 0.18-1.20) and mean refractive error was -7.21 ± 5.32. Type 2 MRNF (n = 14,74%) was the commonest. Average MRNF size was 34.37 ± 40.73 sq.mm. Posterior staphyloma was noted in 17 eyes, all in close MRNF association. Significant positive corelation was noted between logMAR visual acuity and MRNF size (r = 0.5, p = 0.028). CONCLUSION:Large size MRNF corelated with poor visual acuity in the study. The paper explains the possible pathogenetic mechanisms for the ocular findings seen in MRNF.