Objective: This is a pilot study aimed to determine the association of the Retinal Nerve Fiber Layer (RNFL) thickness with X-Linked Parkinsonism Disease patients using Spectral Domain Optical Coherence Tomography (SD-OCT) and to determine if the duration and type of the disease correlate with RNFL thickness.

Background: Sex-linked dystonia parkinsonism is rare type of movement disorder with varying severity and parkinsonism found only in people of Filipino descent and predominantly affecting the male population. Ocular Coherence Tomography is a fast, cost-efficient and non-invasive retinal imaging tool that can generate cross-sectional images of the RNFL.  Previous studies have detected reduction of RNFL thickness in neurodegenerative disorders however no report on the correlation with retinal findings and vision of XDP patients has been made.

Method: This is an observational cross sectional study consisting of patients who are clinically and genetically confirmed cases of X-Linked Dystonia Parkinsonism from Panay, Philippines and their age-matched controls. Disease severity was measured the X-linked dystonia-parkinsonism-Movement Disorder Society of the Philippines (XDP-MDSP) rating scale, disease duration (years), type (dystonia-dominant or parkinsonism-dominant or mixed) were recorded. Structural analysis of the RNFL was performed using spectral domain optical coherence tomography and results were collated according to the average RNFL thickness and RNFL thickness per 6 sector (superonasal, inferonasal, superotemporal, inferotemporal, temporal, nasal). Sub-analysis of the relationship of the duration of the disease, MDSP rating, and types of XPD to RNFL thickness were also done.

Results: Results showed there is statistically significant thinning of the RNFL of all sectors of XDP patients except the superotemporal sector, compared with the controls. A cut off value of RNFL thickness per sector, predictive of XDP, was generated however with poor sensitivity and specificity. The duration of the disease, type of XPD, and severity of disease did not significantly correlate with RNFL thickness.

Conclusion: X-Linked Parkinsonism Disease patients have significantly reduced RNFL thickness. Measurement of RNFL thickness can be a promising non-invasive and cost-effective biomarker for the diagnosis of PD and for evaluation of the effect of future therapies.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/correlation-of-retinal-nerve-fiber-layer-thickness-and-x-linked-dystonia-parkinsonism-measured-by-spectral-domain-optical-coherence-tomography/