Publications by authors named "Elisa De Siena"
Article Synopsis
- Photopic negative response (PhNR) is a measure of retinal ganglion cell (RGC) function and was found to be impaired in pediatric patients with optic pathway gliomas (OPGs).
- A study followed 14 OPG patients for about 16.7 months, revealing that their PhNR amplitude significantly decreased over time, particularly in those with neurofibromatosis type 1 (NF1).
- Despite stable tumor sizes on MRI, the decline in PhNR amplitude indicates progressive RGC dysfunction in NF1-related OPGs, suggesting that PhNR could be a useful non-invasive method for monitoring these changes in future clinical evaluations.
Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger sequencing and-when necessary-multiplex ligation-dependent probe amplification (MLPA) to diagnose the molecular cause of the aforementioned diseases. When possible, segregation analysis was performed in order to confirm unsolved cases. Each patient's retinal phenotypic characteristics were determined using focal and full-field ERGs, perimetry, spectral domain optical coherence tomography and fundus autofluorescence.
View Article and Find Full Text PDFPurpose: To evaluate morpho-functional outcomes of the intravitreal fluocinolone acetonide (FAc) implant.
Methods: Retrospective, observational, single-center study. Primary endpoint was the mean change in central macular thickness (CMT) from baseline to month 1-3.
Guanylate cyclase-activating protein 1 (GCAP1) is involved in the shutdown of the phototransduction cascade by regulating the enzymatic activity of retinal guanylate cyclase via a Ca/cGMP negative feedback. While the phototransduction-associated role of GCAP1 in the photoreceptor outer segment is widely established, its implication in synaptic transmission to downstream neurons remains to be clarified. Here, we present clinical and biochemical data on a novel isolate GCAP1 variant leading to a double amino acid substitution (p.
View Article and Find Full Text PDFUsher syndrome type 2A () is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width.
View Article and Find Full Text PDFIntroduction: Cataract surgery can be associated with vision-threatening complications in patients with diabetes. This study aimed to assess the functional and anatomic outcomes of the intravitreal dexamethasone (DEX) implant, administered at the time as cataract surgery, in patients with diabetic retinopathy and diabetic macular edema (DME).
Methods: This was a retrospective, observational, and single-center study.