Optical Coherence Tomography Detects Retinal Changes in Hereditary Cerebral Amyloid Angiopathy.

van Etten, Ellis S; de Boer, Irene; Steenmeijer, Sylvie R; Al-Nofal, Mays; Wermer, Marieke J H; Notting, Irene C; Terwindt, Gisela M

BACKGROUND Investigating mutation carriers with Dutch-type hereditary Cerebral Amyloid Angiopathy (D-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. We performed an exploratory study on the thickness of retinal layers as possible (early) biomarker in D-CAA mutation carriers. METHODS D-CAA mutation carriers (n=8 presymptomatic, n=13 symptomatic, median age 50 years) and (n=9, median age 53 years) controls were scanned using Spectral Domain OCT (SD-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 regions thickness were measured and analyzed adjusted for age. RESULTS The overall median (IQR) thickness of pRNFL was decreased in symptomatic, but not presymptomatic D-CAA mutation carriers compared with controls (91µm (86-95) versus 99µm (87-108),p=0.006). Both presymptomatic (111µm (93-122) versus 131µm (123-143),p<0.001) and symptomatic carriers (119µm (95-128) versus 131µm (123-143),p=0.034) had a thinner temporal-superior quadrant of the pRNFL versus controls. TMV or individual macular layers 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 marker for disease progression.