The progression of macular structural and functional changes in Late-Onset Retinal Degeneration.

PURPOSE To characterise the progression of structural and functional changes in the retinas of a small cohort of unrelated patients with early L-ORD and evaluate these changes as potential biomarkers for future treatment trials. METHODS Best corrected visual acuity (BCVA), contrast sensitivity (CS), Goldman visual fields (GVF), retinal sensitivity measurement by mesopic microperimetry, the extent of ellipsoid zone (EZ) disruption using spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence imaging were performed at each biennial visit. PATIENTS Three unrelated patients with molecularly confirmed L-ORD (S163R mutation in C1QTNF5) were prospectively followed for 4 years RESULTS:: The patient's ages were 44, 54 and 62 at baseline. Over the 4 year follow up period, one patient demonstrated a significant reduction in BCVA (6 ETDRS letters) whereas two patients suffered a significant reduction in CS. Early in the disease, there was a close relationship between ellipsoid zone disruption and a loss in retinal sensitivity. Later in the course of the disease there were areas outside the zones of EZ disruption that also suffered progressive loss of retinal sensitivity, suggesting that ellipsoid zone loss was not the only factor responsible for the loss of retinal sensitivity. Changes in fundus autofluorescence and GVF loss were not closely related to changes in EZ disruption or retinal sensitivity loss. CONCLUSION This study has found that the monitoring of the progression of EZ disruption and changes in mesopic microperimetry may be useful biomarkers in future clinical trials in patients with L-ORD.