Frequency Doubling Technology Visual Field Loss in Fabry Subjects Related to Retinal Ganglion Cell Function as Explored by ERG and OSOME.

PURPOSE

This study aims to evaluate potential causes of FDT visual field loss in a selected group of Fabry subjects.

PATIENTS AND METHODS

This is a pilot observational study. Subjects were assessed during 2 visits. The following tests were performed: visual acuity, tonometry, optical coherence tomography (OCT) optic nerve scan, frequency doubling time (FDT) and threshold (SAP) VF, ERG, and Online Spectro-reflectometry Oxygenation Measurement in the Eye (OSOME). Results are compared across visits and, when indicated, interpreted against those collected on non-Fabry population matched for age and sex.

RESULTS

The study population was composed of 3 males (34.3 ± 8.9 y.o.) and 5 females (46.4 ± 6.5 y.o). For all subjects, BCVA remained 6/6 OU throughout the study and OCT optic nerve scans were normal. FDT showed a defect in at least 1 quadrant for all participants, in contrast with SAP. FDT PSD value was found different vs SAP. For ERG, the i-wave (52.1 + 2.7 ms) and B-waves (31.6 ± 2.1 ms) peak times were significantly longer compared to a non-Fabry population (p < 0.05). Overall blood oxygenation varied from 61.3% ± 4% to 68.1% ± 4% at the second visit, suggesting a loss of capillary perfusion. Blood volume varied based on location (superior/inferior), eye tested (OD/OS) and time (visit 1/2). The range of values exceeds normal subjects findings (p < 0.05). Blood volume was correlated to FDT PSD value for the superior area of the optic nerve.

CONCLUSION

The results suggest that Fabry subjects present FDT deficits and abnormal ERG patterns that may be explained by a retinal dysfunction affecting retinal ganglion cells (RGCs), second to vascular alterations.