Purpose: We aim to provide a description of the optical coherence tomography findings in the outer macula hyperreflective bands of our patients with X-linked juvenile retinoschisis. Also to categorize these changes and to quantitatively and qualitatively correlate their reflectivity levels with visual function.
Methods: We manually segmented the borders, and depicted relative intensity of the inner segment ellipsoid band, and quantified the volume of edema.
Results: The average relative intensity of the ellipsoid zone, ISe band, for the control subject was 14.864, our patient's, with the mild disease was, 28.238 and 34.943 in OD and OS, respectively, and for the patient with severe disease was, 44.442 and 40.154 for OD and OS respectively. Thresholding showed a significant difference in edema volume between mild disease (~20%), and severe form (~50%). Relative intensity analyses are indicative of homogeneity variability. High standard deviation value illustrates the high dispersion of data values and is a safe marker of ellipsoid zone homogeneity.
Conclusion: Data suggested that both anatomic and functional characteristic of outer macula hyperreflective bands were notably associated with the pathogenesis cascade in the photoreceptor cells. External limiting membrane line disruption is initiated by the volume of macular edema and followed by disorganization of the three lines in a stepwise pattern, first at the ellipsoid zone, followed by the cone outer segment tips zone and finally at the External limiting membrane.
Keywords: Congenital and stationary retinal disease; genetics; macular and RPE dystrophies; retina; retinal pathology/research; techniques of retinal examination.