Category: Parkinson's Disease: Genetics
Objective: To study whether retinal nerve alterations can be a useful biomarker in presymptomatic stages of Parkinson’s disease (PD) associated with the G2019S mutation of LRRK2.
Background: In both early symptomatic stages of PD and subjects with iRBD a reduced thickness of mean peripapillary retinal nerve fiber layer (pRNFL) and macular ganglion cell complex (mGCC) have been identified, suggesting that retinal pathological changes may precede or accompany the deterioration of brain tissue in PD. Whether these retinal alterations can also be detected in symptomatic and presymptomatic stages of LRRK2-PD is unknown.
Method: 218 eyes belonging to 20 patients with idiopathic PD (iPD) (mean age 67.2 ± 11.5 years, disease evolution 6 years), 19 with PD associated with LRRK2-G2019S mutation (LRRK2-PD) (mean age 68.9 ± 13.5 years, disease duration 6.5 years), 24 asymptomatic carriers of the LRRK2-G2019S mutation (AsG2019S) (mean age 61.4 ± 8.7 years) and 43 controls (mean age 64.2 ± 9.1 years) were included in the analysis. Spectral domain optical coherence tomography (SD-OCT) was performed and pRNFL and Bruch’s membrane opening minimum rim width (RIM) were evaluated for optic nerve involvement, as well as mGCC thickness. In the AsG2019S group, DaT-SPECT (123I-ioflupane) with semi-quantitative analysis was carried out.
Results: Compared to controls iPD patients showed significantly lower thicknesses in the temporal (RIM and pRNFL), superior temporal (RIM and pRNFL), inferior temporal (RIM), superior nasal (RIM) and central sectors (RIM) (p<0.01), as well as in eight mGCC sectors (p<0.05). However, no significant differences were found between the LRRK2-PD or AsG2019S and controls. After adjusting for age and sex, none of the retinal thickness variables analyzed correlated with the striatal DaT binding ratio in AsG2019S.
Conclusion: LRRK2 G2019S-associated PD is distinguished from iPD by absent or less retinal nerve involvement, both in clinical and preclinical stages. On this basis, the analysis of the thickness of the different retinal nerve components by OCT cannot be considered a useful biomarker in this PD subtype.
To cite this abstract in AMA style:
A. Cerveró, A. Sánchez-Rodríguez, M. Rivera-Sánchez, I. Martínez-Rodríguez, M. Sierra, I. González-Aramburu, A. Gutiérrez-González, J. Andrés-Pacheco, A. Casado, J. Infante. Study of retinal and optic nerve ganglion cell layer in Parkinson’s disease and asymptomatic carriers of the LRRK2-G2019S mutation [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/study-of-retinal-and-optic-nerve-ganglion-cell-layer-in-parkinsons-disease-and-asymptomatic-carriers-of-the-lrrk2-g2019s-mutation/. Accessed November 21, 2024.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/study-of-retinal-and-optic-nerve-ganglion-cell-layer-in-parkinsons-disease-and-asymptomatic-carriers-of-the-lrrk2-g2019s-mutation/