Purpose: Choroideremia is a rare degenerative retinal disease that causes incurable blindness. It occurs as a result of the deficiency of the X-linked CHM gene, which encodes the Rab escort protein 1 (REP1). Gene therapy has been developed to treat CHM using adeno-associated viral vectors and is currently undergoing clinical trials. Expression of the CHM gene is ubiquitous throughout the retina, and it is therefore important to identify which retinal layers are affected in the disease process. The purpose of this study was to assess in particular the choriocapillaris using optical coherence tomography angiography because this layer is difficult to see with conventional imaging techniques.
Methods: Six men with choroideremia were identified and underwent standardized optical coherence tomography angiography as part of an ethics-approved clinical study and were compared with age-matched control subjects.
Results: The choriocapillaris appeared normal in regions where the retinal pigment epithelium remained intact, but it was deficient elsewhere. The outer retinal vasculature showed significant changes peripherally but also some changes centrally. The inner retinal vasculature appeared unaffected by the disease process.
Conclusion: Choroideremia is a disease in which the choriocapillaris maintains a normal structure until the loss of the overlying retinal pigment epithelium. The inner retina also appears not to be affected at the vascular level. Although this study is limited by the small number of patients eligible for inclusion in the study, the observations support the concept of targeting gene therapy to the retinal pigment epithelium and outer retina because there is no evidence of independent degeneration of the choriocapillaris.
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http://dx.doi.org/10.1097/IAE.0000000000002118 | DOI Listing |
Commun Chem
January 2025
Energy & Materials Transition, Netherlands Organization for Applied Scientific Research (TNO), Urmonderbaan 22, Geleen, 6167RD, The Netherlands.
Time-resolved coherent Raman spectroscopy (CRS) is a powerful non-linear optical technique for quantitative, in-situ analysis of chemically reacting flows, offering unparalleled accuracy and exceptional spatiotemporal resolution. Its application to large polyatomic molecules, crucial for understanding reaction dynamics, has thus far been limited by the complexity of their rotational-vibrational Raman spectra. Progress in developing comprehensive spectral codes for these molecules, a longstanding goal, has been hindered by prohibitively long computation times required for their spectral synthesis.
View Article and Find Full Text PDFEye (Lond)
January 2025
Key Laboratory for Biomechanics and Mechanobiology of Ministry of Education, Beijing Advanced Innovation Center for Biomedical Engineering, Beihang University, Beijing, China.
Objectives: To use finite element (FE) modeling and in vivo optical coherence tomography (OCT) imaging to explore the effect of ciliary muscle traction on optic nerve head (ONH) deformation during accommodation.
Methods: We developed a FE model to mimic the ciliary muscle traction during accommodation, and varied the stiffness of the sclera, choroid, Bruch's membrane (BM), prelaminar neural tissue and lamina cribrosa (LC) to assess their effects on accommodation-induced ONH strains. To validate the FE model, OCT images of the right eyes' ONHs from 20 subjects (25 ± 1.
J Med Case Rep
January 2025
Headache Department, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Idiopathic intracranial hypertension (IIH) is a condition where the pressure of the cerebrospinal fluid in the brain increases without a known cause. It typically affects adults but can also occur in adolescents and children, although it is less common. Numerous elements, including coagulopathy, have been documented in previous cases as potential etiological factors of IIH.
View Article and Find Full Text PDFExp Eye Res
January 2025
Institute of Biomedical Engineering, University of Montréal, Montréal, Canada; Research Center, CHU Sainte-Justine University Hospital Centre, Montréal, Canada; Department of Radiology, Radio-oncology and Nuclear Medicine, University of Montréal, Montréal, Canada. Electronic address:
The morphology and thickness of the retinal layers are valuable biomarkers for retinal health and development. The retinal layers in mice are similar to those in humans; thus, a mouse is appropriate for studying the retina. The objectives of this systematic review were: (1) to describe normal retinal morphology quantitatively using retinal layer thickness measured from birth to age 6 months in healthy mice; and (2) to describe morphological changes in physiological retinal development over time using the longitudinal (in vivo) and cross-sectional (ex vivo) data from the included studies.
View Article and Find Full Text PDFNeurosci Biobehav Rev
January 2025
Laboratory of Molecular and Systems Neurobiology, Department of Physiology and Neurobiology, Eötvös Loránd University.
The role of prolactin in sleep regulation has been the subject of extensive research over the past 50 years, resulting in the identification of multiple, disparate functions for the hormone. Prolactin demonstrated a characteristic circadian release pattern with elevation during dark and diminution during light. High prolactin levels were linked to non-rapid eye movement sleep and electroencephalogram delta activity in humans.
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