Publications by authors named "S Dulz"
Article Synopsis
- This study aimed to examine the degeneration of peripapillary retinal nerve fiber layer (pRNFL) in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to assess pRNFL thickness using optical coherence tomography (OCT) as a potential indicator of disease progression.
- The research involved 20 diagnosed patients who received regular enzyme replacement therapy, with OCT imaging conducted under anesthesia; results showed a significantly lower mean pRNFL thickness compared to healthy children, indicating degeneration.
- Results highlighted that pRNFL thickness correlated strongly with age and clinical scales used to evaluate motor and language abilities, suggesting that pRNFL can serve as a useful biomarker for monitoring the progression of CL
Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety of symptoms. Leukodystrophies are usually progressive, resulting in severe disabilities and premature death.
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- This study investigates the retinal changes in patients with CLN2 disease who are receiving enzyme replacement therapy (ERT), focusing on the loss of central retinal thickness (CRT).
- Using optical coherence tomography scans, researchers analyzed the structural details of the retina and found that the degeneration primarily affects photoreceptor cells.
- Findings indicate that early disruptions in the ellipsoid zone (EZ) of the retina precede more significant photoreceptor degeneration, which progresses in a predictable pattern, providing valuable biomarkers for assessing disease and treatment effectiveness.
Background: To investigate the presence of silicone oil (SO)-emulsification on the anterior iris surface with anterior segment optical coherence tomography (AS-OCT).
Methods: In this single-center cross-sectional study, vitrectomized eyes with SO tamponade that underwent AS-OCT imaging and gonioscopy examination during the postoperative follow-up visits, were reviewed.
Results: 45 eyes of 42 consecutive patients were included.
Introduction: X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish potential structural and functional endpoints for clinical trials, a comprehensive understanding of the inter-eye symmetry, relationship between structural and functional parameters, and disease progression is vital.
Methods: In this retrospective multicentre study, 118 eyes of 59 XLRS patients with mutations were assessed.