Visual Acuity-Related Outer Retinal Structural Parameters on Swept Source Optical Coherence Tomography and...

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• X-linked retinoschisis (XLRS) is a genetic retinal disorder.
• RS1 gene mutations cause XLRS.
• Understanding structural changes is crucial for prognosis.

Purpose of the Study:

• Quantify differences in vessel density and retinal thickness in XLRS patients and RS1 mutation carriers.
• Correlate these structural changes with best-corrected visual acuity (BCVA).
• Utilize swept source optical coherence tomography (SS-OCT) and OCT angiography (OCTA) for detailed analysis.

Main Methods:

• Quantitative analysis of SS-OCT and OCTA data from XLRS patients and carriers.
• Correlation analysis between BCVA and specific retinal layer thicknesses and vessel densities.
• Detailed examination of structural characteristics in XLRS patients.

Main Results:

• XLRS patients exhibited lower vessel density in superficial and deep capillary plexuses and reduced outer nuclear layer thickness.
• BCVA correlated with outer plexiform and outer nuclear layer thickness, and outer limiting membrane to retinal pigment epithelium thickness.
• RS1 mutation carriers showed increased outer plexiform layer thickness and smaller foveal avascular zones.

Conclusions:

• SS-OCT and OCTA effectively identify pathological alterations in retinal layers and capillaries, pinpointing damage locations.
• Subtle alterations in carriers, detectable by SS-OCT despite normal visual acuity, may result from lyonization.
• SS-OCT is a valuable tool for assessing retinal damage, prognosis, and follow-up in XLRS.