Dataset Information

No optical coherence tomography changes in premanifest Huntington's disease mutation carriers far from disease onset.

ABSTRACT:

Background

Spectral-domain optical coherence tomography (OCT) may detect retinal changes as a biomarker in neurodegenerative diseases like manifest Huntington's disease (HD). We investigate macular retinal layer thicknesses in a premanifest HD (pre-HD) cohort and healthy controls (HC).

Methods

Pre-HD mutation carriers underwent standardized ratings and a preset macular OCT scan. Thickness values were determined for each sector of all macular retinal layers, the mean of all sectors and the mean of the inner ring (IR, 3 mm) after segmentation (Heyex segmentation batch). HC were retrospectively included from an existing database. The IR thickness of the ganglion cell layer (GCL), retinal nerve fiber layer (RNFL), GCL + inner plexiform layer (GCIPL), and total retina were included in the exploratory correlation analyses with paraclinical ratings and compared to HC.

Results

The analyses comprised n = 24 pre-HD participants (n = 10 male, n = 14 female) and n = 38 HC (n = 14 male, n = 24 female). Retinal layer parameters did not correlate with paraclinical ratings. Expected correlations between established HD biomarkers were robust. The IR thicknesses of the GCL, GCIPL, and total retina did not differ between pre-HD and HC. The IR thickness of the RNFL was significantly higher in pre-HD participants (pre-HD: 23.22 μm (standard deviation 2.91), HC: 21.26 μm (1.90), p = .002).

Discussion

In this cross-sectional cohort of genetically determined pre-HD participants, neurodegenerative features were not detected with retinal layer segmentation. Since our pre-HD collective was more than 16 years before disease onset, OCT may not be sensitive enough to detect early changes.

SUBMITTER: Schmid RD

PROVIDER: S-EPMC9226796 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:PurposeTo evaluate macular and extramacular retinal anatomy in patients and carriers of X-linked retinoschisis (XLRS) using a wide-field spectral-domain optical coherence tomography (SD-OCT) imaging technique.DesignCase series.ParticipantsSix XLRS-affected male subjects and 3 XLRS female carriers.MethodsThe subjects prospectively underwent XLRS DNA genotyping and comprehensive ophthalmic examination, including visual acuity, 30-2 Humphrey visual field, fundus photography, and wide-field SD-OCT, a montage technique to generate SD-OCT images spanning approximately 50 degrees horizontally and 35 degrees vertically of the posterior pole.Main outcome measuresDistribution and location of schisis cavities.ResultsAmong male subjects affected by XLRS, asymmetric bilateral schisis was seen in all eyes imaged with montage SD-OCT (11 eyes). Wide-field OCT images demonstrated schisis cavities only in the central macula in 6 eyes (55%), throughout the macula extending to the outside of the temporal arcades in 3 eyes (27%), and throughout the macula extending nasal to the optic nerve in 2 eyes (18%). Cystoid spaces accounting for macular splitting were present in the inner nuclear layer (INL) in all 11 eyes and in the outer nuclear layer (ONL) in 4 eyes. A few small cysts were seen parafoveally in the ganglion cell layer (GCL) or nerve fiber layer (NFL) in 4 eyes. Subclinical extramacular schisis spaces were seen (n=5 eyes) within the INL in 1 eye, the ONL in 1 eye, the INL/GCL/NFL in 1 eye, the ONL/GCL/NFL in 1 eye, and the INL/ONL/GCL/NFL in 1 eye. Schisis was rarely seen nasal to the optic nerve (2 eyes). Central/paracentral visual field defects were seen in 9 eyes. Female carriers did not show schisis on examination or OCT.ConclusionsWide-field SD-OCT is a useful tool for evaluating complex retinal anatomy. In patients with XLRS, the foveomacular schisis was seen most frequently in the INL. Subclinical extramacular schisis was seen in 45% of eyes and was equally prevalent in the INL, ONL, and GCL/FNL. The GCL/FNL cystoid spaces were small and seen near the fovea and the arcades only. Carriers were schisis-free.Financial disclosure(s)The author(s) have no proprietary or commercial interest in any materials discussed in this article.