Optical coherence tomography findings in spinocerebellar ataxia-3

Abstract

Purpose To report optical coherence tomography (OCT) findings in order to detect subclinical alterations of the afferent visual pathways in spinocerebellar ataxia 3 (SCA-3). Patients and methods Nine genetically confirmed patients (18 eyes) were evaluated with a complete ophthalmologic examination including visual acuity, colour vision, visual field test, and retinal nerve fibre layer (RNFL) and macular thickness with OCT Cirrus HD. A neurological examination was performed and the Scale for the Assessment and Rating of Ataxia (SARA score) was determined in all patients. Results The mean RNFL thickness was 77.39 microns, standard deviation (SD) was ± 5.93. In 15 eyes (83.33%), the mean RNFL thickness was lower than the population average considering age and sex. In 10 cases, there was a reduction of the RNFL thickness in the superior sector, eight in the inferior and four in the nasal. Temporal sector RNFL thickness was preserved in all eyes. RNFL thickness was inversely correlated to SARA score (r ¼ À 0.64, P ¼ 0.012). The mean macular thickness was 252.61 microns, SD±22.80, being inferior respecting average population in only two eyes (11.11%). In four patients, (eight eyes) OCT studies were performed during a mean follow-up of 14.25 months, and in five eyes (62.50%) there was a mild trend to a RNFL thickness decrease in this period. Conclusion A mild and progressive decrease in RNFL thickness can be observed in SCA-3 patients. A negative correlation exists between an anatomic marker (RNFL thickness) and a clinical severity scale (SARA score); thus, RNFL thickness could be considered as a promising biomarker of the disease.

Optical coherence tomography (OCT) in unconscious and systemically unwell patients using a mobile OCT device: a pilot study

“…Alternatively, they may reflect life-threatening central nervous system (CNS) or systemic pathology, such as retinal microvascular changes or optic disc swelling in papilloedema. Although not tested with the SPECTRALIS FLEX module, standard table-top OCT and OCTA have been used in a range of relevant conditions, including raised intracranial pressure, neurodegenerative diseases and dementia 14–17. Additionally, the retinal vasculature exhibits autoregulation to systemic insults such as hypoxia and has demonstrated quantifiable reductions in vessel density during hypoxic provocation 18 19.…”

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

“…None of the studies has analyzed intra-retinal layer thickness of the macula. It is important to note that Pula et al and Alvarez et al reported a correlation between disease severity and pRNFL thinning for SCA-ATXN2 and SCA-ATXN3 or SCA-ATXN3 alone [26,34], but data were limited to small sample sizes. Both studies did not report visual acuity for their cohort.…”

Detection of retinal changes in idiopathic Parkinson's disease using high‐resolution optical coherence tomography and heidelberg retina tomography

“…However, with the increasing number of observations of retinal changes in patients with neuroinflammatory and neurodegenerative diseases (Alvarez et al. ; Lange et al. ; Marziani et al.…”

“…Retinal imaging devices were primarily developed for the detection of retinal disorders in ophthalmology (Puliafito et al 1995;Jaffe & Caprioli 2004). However, with the increasing number of observations of retinal changes in patients with neuroinflammatory and neurodegenerative diseases (Alvarez et al 2013;Lange et al 2013;Marziani et al 2013;Simao 2013), such devises have also gained importance for neurological diseases (Ziemssen & Ziemssen 2013).…”