Publications by authors named "Sylvie R Steenmeijer"
Article Synopsis
- RVCL-S is a genetic small vessel disease linked to TREX1 mutations, affecting the retina and brain, with optical coherence tomography (OCT) being used to assess retinal layer thickness as a biomarker.
- A study comparing 17 TREX1 mutation carriers to 9 controls found significantly reduced thickness in the peripapillary retinal nerve fiber layer (pRNFL) and total macular volume (TMV) among mutation carriers.
- Results suggest that OCT findings indicate retinal thinning in RVCL-S patients, even in cases with normal eye examinations, highlighting the potential for using OCT as an early diagnostic tool for vascular retinopathies.
Article Synopsis
- Pure autonomic failure (PAF) and multiple system atrophy (MSA) are rare disorders that cause severe autonomic system issues, and distinguishing between them can take years.
- The study aimed to see if new non-invasive tests could help differentiate between PAF and MSA using skin and eye assessments.
- The findings showed some differences in skin tests between affected individuals and controls, but the tests were ineffective in distinguishing between PAF and MSA specifically.
A 29-year-old male presented at the ER with a red and painful left eye with sudden and progressive loss of vision within a week. His visual acuity was 1/60. Slit lamp investigation showed inflammatory cells throughout the anterior chamber and vitreous body, and a hyperaemic and swollen optic disc with retinal lesions, indicating a panuveitis combined with multifocal chorioretinitis.
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