Optical coherence tomography detects retinal changes in hereditary cerebral amyloid angiopathy

BACKGROUND AND PURPOSE: Investigating mutation carriers with Dutch‐type hereditary (D‐) cerebral amyloid angiopathy (CAA), offers the possibility to identify markers in pre‐ and symptomatic stages of CAA. Optical coherence tomography (OCT) has shown potential to detect retinal changes in several neurodegenerative diseases. The aim of the present exploratory study was to investigate thinning of retinal layers as a possible (early) biomarker in D‐CAA mutation carriers. METHODS: Twenty‐one D‐CAA mutation carriers (n = 8 presymptomatic, n = 13 symptomatic, median age 50 years) and nine controls (median age 53 years) were scanned using spectral‐domain OCT. Symptomatic mutation carriers were defined as having a history of ≥1 symptomatic intracerebral hemorrhage. D‐CAA mutation carriers and controls were recruited from our D‐CAA cohort and a healthy control cohort. Total peripapillary retinal nerve fiber layer (pRNFL) thickness, six regions of pRNFL, total macular volume (TMV), and individual macular region thickness were measured and analysed, adjusted for age. RESULTS: The overall median (interquartile range) thickness of pRNFL was lower in symptomatic, but not presymptomatic D‐CAA mutation carriers compared with controls [91 (86–95) µm vs. 99 (87–108) µm; P = 0.006]. Both presymptomatic [111 (93–122) µm vs. 131 (123–143) µm; P < 0.001] and symptomatic carriers [119 (95–128) µm vs. 131 (123–143) µm; P = 0.034] had a thinner temporal‐superior quadrant of the pRNFL versus controls. TMV or individual macular layer thickness did not differ between carriers and controls. CONCLUSIONS: Thinning of the retinal nerve fiber layer may be a candidate marker of disease in hereditary CAA. Further studies are needed to determine whether retinal thinning is present in sporadic CAA and estimate its value as a marker for disease progression.