Parkinsonism & related disorders · 2025
Retinal structural changes in Parkinson's disease: differences in pRNFL thickness between GBA1-associated and idiopathic cases.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Portaro Giacomo, Giacomelli Michelangelo, Grisanti Sara, Taruffi Lisa, Di Rauso Giulia, Fioravanti Valentina, Salomone Gaetano, Argenziano Giacomo, Sabadini Rossella, Toschi Giulia, Iotti Ottavia, Campanini Isabella, Merlo Andrea, Cavazzuti Lorenzo, Damiano Benedetta, Scaltriti Sara, Scaglioni Augusto, Paul Jefri J, Bauer Peter, Biagini Giuseppe, Monfrini Edoardo, Di Fonzo Alessio, Montepietra Sara, Valzania Franco, Vecchi Marco, Cavallieri Francesco, FABIP-PD STUDY-GROUP
Аннотация
INTRODUCTION: In recent years, retinal structural changes have attracted considerable attention as a potential biomarker of neurodegeneration in Parkinson's disease (PD). Several studies have reported a reduced Retinal Nerve Fiber Layer (pRNFL) thickness in patients with PD compared with age-matched controls. However, potential retinal differences between "idiopathic" PD and GBA1-associated PD (GBA-PD) remain largely unexplored.
METHODS: In this single-center observational study, we enrolled 59 PD patients: 32 GBA-PD and 27 non-mutated (NM-PD). A comprehensive clinical assessment included MoCA, MDS-UPDRS and Hoehn-Yahr. Spectral-domain OCT measured pRNFL thickness at 3.5, 4.1 and 4.7 mm diameters across six sectors. Statistical analysis assessed intergroup differences and associations with clinical variables.
RESULTS: NM-PD exhibited significantly thinner temporal sectors compared to GBA-PD (p < .05, Mann-Whitney U test). In NM-PD, positive correlations emerged between temporal-superior pRNFL and MoCA scores, in line with previous studies, and, more surprisingly, between nasal-inferior sector and MDS-UPDRS part-IV. No robust associations with clinical variables were found in GBA-PD.
CONCLUSIONS: This study demonstrates differences in retinal thickness between GBA-PD and NM-PD. In particular, a lower pRNFL in NM-PD may be the product of a different pathophysiological mechanism. Moreover, sector-specific retinal thickness showed correlations to cognitive impairment and motor complications in NM-PD. These observations provide novel insights into genotype-specific mechanisms of neurodegeneration in PD and suggest that retinal imaging may offer a window into both cognitive and motor complications. Further longitudinal studies, including healthy controls and expanded retinal layer analyses, are needed to confirm and expand these findings.
METHODS: In this single-center observational study, we enrolled 59 PD patients: 32 GBA-PD and 27 non-mutated (NM-PD). A comprehensive clinical assessment included MoCA, MDS-UPDRS and Hoehn-Yahr. Spectral-domain OCT measured pRNFL thickness at 3.5, 4.1 and 4.7 mm diameters across six sectors. Statistical analysis assessed intergroup differences and associations with clinical variables.
RESULTS: NM-PD exhibited significantly thinner temporal sectors compared to GBA-PD (p < .05, Mann-Whitney U test). In NM-PD, positive correlations emerged between temporal-superior pRNFL and MoCA scores, in line with previous studies, and, more surprisingly, between nasal-inferior sector and MDS-UPDRS part-IV. No robust associations with clinical variables were found in GBA-PD.
CONCLUSIONS: This study demonstrates differences in retinal thickness between GBA-PD and NM-PD. In particular, a lower pRNFL in NM-PD may be the product of a different pathophysiological mechanism. Moreover, sector-specific retinal thickness showed correlations to cognitive impairment and motor complications in NM-PD. These observations provide novel insights into genotype-specific mechanisms of neurodegeneration in PD and suggest that retinal imaging may offer a window into both cognitive and motor complications. Further longitudinal studies, including healthy controls and expanded retinal layer analyses, are needed to confirm and expand these findings.