Publications by authors named "Emanuel Carvalho"
Purpose: To describe phenotypic, genotypic, and histopathological features of inherited retinal dystrophies associated with the CRX gene (CRX-RDs).
Design: Retrospective multicenter cohort study including histopathology.
Subjects: Thirty-nine patients from 31 families with pathogenic variants in the CRX gene.
Article Synopsis
- Deep brain stimulation (DBS) of the subthalamic nucleus can help patients with Parkinson's but can also lead to problems like blepharospasm and apraxia of eyelid opening (ALO).
- This study documented the experiences of five patients suffering from these issues after receiving STN-DBS, focusing on their treatments and symptom management from 2011 to 2020.
- Results showed that a personalized treatment plan, including options like botulinum toxin injections and various surgical procedures, led to significant improvements in their eyelid movement disorders.
Article Synopsis
- The study aimed to explore the relationship between genetic variants and visual outcomes in patients with retinopathy.
- Three patient groups were analyzed based on genetic variants: two loss-of-function (TLOF), two missense (TM), and one of each (MLOF).
- Results showed that patients with missense variants (TM) had better visual acuity and structural integrity compared to those with TLOF, suggesting differences in prognosis and implications for future gene therapy.
Objective: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future therapeutic trials.
Design: International, multicenter, retrospective cohort study.
Subjects: Eighty-two patients with GUCY2D-associated LCA or CORD from 54 families.
Purpose: To assess intrapupillary space (IPS) changes in healthy subjects with regard to decreased iris motility in patients with pseudoexfoliation glaucoma (PEXG) or non-arteritic anterior ischaemic optic neuropathy (NAION) in a feasibility study in a clinical environment.
Methods: Scotopic and photopic IPS measurements using three-dimensionally rendered swept-source optical coherence tomography (SS-OCT) data were obtained and compared for all subjects. Intrapupillary space (IPS) parameters were evaluated such as absolute volumetric differences, relative light response for volumetric ratios and pupillary ejection fraction (PEF) for functional contraction measurements.
Purpose: Virtual reality (VR) can be useful in explaining diseases and complications that affect children in order to improve medical communications with this vulnerable patient group. So far, children and young people's responses to high-end medical VR environments have never been assessed.
Methods: An unprecedented number of 320 children and young people were given the opportunity to interact with a VR application displaying original ophthalmic volume data via a commercially available tethered head-mounted display (HMD).
Purpose: To describe the detailed retinal phenotype of KCNV2-associated retinopathy.
Study Design: Multicenter international retrospective case series.
Methods: Review of retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), including qualitative and quantitative analyses.
Objective: To estimate the efficacy of urethroplasty and rates of de novo stress urinary incontinence (SUI) in the specific setting of radiation-induced urethral stenosis.
Methods: A systematic search of databases (PubMed and EMBASE) was performed between 1980-2019 (CRD42020144845). Inclusion criteria were: (1) prior pelvic radiotherapy; (2) surgical urethroplasty; (3) rates of successful treatment and/or SUI development and (4) total case number provided.
Purpose: To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults.
Study Design: This was a multicenter international clinical cohort study.
Methods: Review of clinical notes and molecular genetic testing.
Optical coherence tomography (OCT) is a non-invasive medical imaging technology that is playing an increasing role in the routine assessment and management of patients with neuro-ophthalmic conditions. Its ability to characterise the optic nerve head, peripapillary retinal nerve fibre layer and cellular layers of the macula including the ganglion cell layer enables qualitative and quantitative assessment of optic nerve disease. In this review, we discuss technical features of OCT and OCT-based imaging techniques in the neuro-ophthalmic context, potential pitfalls to be aware of, and specific applications in more common neuro-ophthalmic conditions including demyelinating, inflammatory, ischaemic and compressive optic neuropathies, optic disc drusen and raised intracranial pressure.
View Article and Find Full Text PDFPurpose: To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced S-cone syndrome (ESCS).
Design: Retrospective case series.
Participants: Fifty-six patients with ESCS.
Clinical science and medical imaging technology are traditionally displayed in two dimensions (2D) on a computer monitor. In contrast, three-dimensional (3D) virtual reality (VR) expands the realm of 2D image visualization, enabling an immersive VR experience with unhindered spatial interaction by the user. Thus far, analysis of data extracted from VR applications was mainly qualitative.
View Article and Find Full Text PDFPurpose: To characterize the retinal phenotype of juvenile neuronal ceroid lipofuscinosis (JNCL), highlight delayed and mistaken diagnosis, and propose an algorithm for early identification.
Design: Retrospective case series.
Participants: Eight children (5 female) with JNCL.
Purpose: Preliminary to evaluate geometric indices (vessel sphericity and cylindricity) for volume-rendered optical coherence tomography angiography (OCTA) in healthy and diabetic eyes.
Methods: Twenty-six eyes of 13 healthy subjects and 12 eyes of patients with central ischemic, non-proliferative diabetic retinopathy were included. OCTA volume and surface area of the foveal vessels were measured and compared to determine OCTA sphericity and cylindricity indices and surface efficiency (SE).
Purpose: To benchmark the human and machine performance of spectral-domain (SD) and swept-source (SS) optical coherence tomography (OCT) image segmentation, i.e., pixel-wise classification, for the compartments vitreous, retina, choroid, sclera.
View Article and Find Full Text PDFBackground: Laboratory practice commonly implies rodent anesthesia. Such is instrumental not only for animal welfare, but also for standardized assessment of new anesthetics.
New Method: We developed and validated a grading system for a temporal follow-up of anesthesia.
Introduction: Robotic-assisted radical prostatectomy is the leading surgical technique and was discussed in Pasadena Consensus Panel (1). The goal of this study is to present the results of the first fifty-five patients submitted to Anterograde Anatomic Radical Retropubic Prostatectomy technique (R2PA2), without adding complexity or cost.
Materials And Methods: Fifty-five eligible men with localized prostate cancer underwent R2PA2 from January, 2016 to December, 2017.
Background: Detection of a relative afferent pupillary defect (RAPD) by the swinging-light test can be challenging in clinical practice (dark eyes, anisocoria, dark environment). We developed a new method of RAPD quantification based on the recording of the infrared pupillary asymmetry (IPA) with a standard optical coherence tomography (OCT) device.
Methods: The diagnostic value of the IPA for detection of the RAPD was determined by receiver-operating characteristic (ROC) curves and area under the curve (AUC).
Purpose: To study a novel and fast optical coherence tomography (OCT) device for home-based monitoring in age-related macular degeneration (AMD) in a small sample yielding sparse OCT (spOCT) data and to compare the device to a commercially available reference device.
Methods: In this prospective study, both eyes of 31 participants with AMD were included. The subjects underwent scanning with an OCT prototype and a spectral-domain OCT to compare the accuracy of the central retinal thickness (CRT) measurements.
Purpose: Feasibility testing of a novel volume renders technology to display optical coherence tomography data (OCT) in a virtual reality (VR) environment.
Methods: A VR program was written in C++/OpenGL to import and display volumetric OCT data in real time with 180 frames per second using a high-end computer and a tethered head-mounted display. Following exposure, participants completed a Simulator Sickness Questionnaire (SSQ) to assess for nausea, disorientation, and oculomotor disturbances.