Correlation between spectral-domain OCT findings and visual acuity in X-linked retinoschisis.
OBJECTIVE
To investigate the tomographic characteristics of the outer retina and choroid and their relationship with visual acuity in X-linked juvenile retinoschisis (XLRS) patients using spectral-domain optical coherence tomography (SD-OCT).


METHODS
In this retrospective, observational, case-control study, we analyzed 20 eyes of 10 patients with XLRS using SD-OCT. The clinical and tomographic features of the outer retina, including the external limiting membrane (ELM), inner segment/outer segment (IS/OS) junction, cone cell outer segment tips (COST) line, photoreceptor outer segment (PROS) length, and choroid, were evaluated. As controls, 40 age-, sex-, and refraction-matched healthy eyes (1:2 matched) were randomly selected and imaged in parallel.


RESULTS
The most prevalent area of abnormality in the outer retina layer of our patients was the outer plexiform layer (OPL; 60% of all affected eyes) and COST line (75% of all affected eyes). On average, the subfoveal choroid and PROS lengths were 35 μm thicker and 19 μm thinner, respectively, in XLRS patients (P = 0.084 and P < 0.001, respectively). A dominant IS/OS junction, COST line defects, and PROS length were related to patient best-corrected visual acuity (BCVA; P = 0.029, P = 0.001, and P < 0.001, respectively) by univariate analysis. Cone cell outer segment tips line defect and PROS length were the only factors related to BCVA in multivariate analysis (P = 0.028 and 0.003, respectively).


CONCLUSIONS
Outer plexiform layer and photoreceptor microstructure defects are frequent in XLRS patients. Cone cell outer segment tips line defects and shortened PROS lengths as well as other photoreceptor microstructure defects may be closely related to poor vision in XLRS.
Department of Ophthalmology, University of Ulsan, College of Medicine, Ulsan University Hospital, Ulsan, Korea.
Hyun Seung
HS
Yang
Jung Bok
JB
Lee
Young Hee
YH
Yoon
Joo Yong
JY
Lee
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D040181:Genetic Diseases, X-Linked / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D015999:Multivariate Analysis; D012160:Retina / Q000473:pathology*; D041441:Retinoschisis / Q000473:pathology* / Q000503:physiopathology; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence / Q000379:methods; D014792:Visual Acuity / Q000502:physiology*; D055815:Young Adult
X-linked juvenile retinoschisis; foveoschisis; optical coherence tomography; photoreceptors