Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study.

Purpose: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the -related Retinal Degeneration study and to assess their suitability as clinical trial endpoints.

Design: Prospective natural history study.

Participants: Participants (n = 105) with biallelic disease-causing sequence variants in USH2A and BCVA letter scores of ≥54 were included.

Comparison of CT-like MRI sequences for preoperative planning of cochlear implantation using super-high-resolution CT as a reference.

Background: We evaluated the accuracy of magnetic resonance imaging (MRI) computed tomography (CT)-like sequences compared to normal-resolution CT (NR-CT) and super-high-resolution CT (SHR-CT) for planning of cochlear implantation.

Methods: Six cadaveric temporal bone specimens were used. 3-T MRI scans were performed using radial volumetric interpolated breath-hold (STARVIBE), pointwise-encoding time reduction with radial acquisition (PETRA), and ultrashort time of echo (UTE) sequences.

[Techniques for imaging optic disc vasculature in glaucomatous optic neuropathy: A review of the literature].

The anatomy and vasculature of the optic nerve head are complex and subject to numerous variations. The main risk factor for glaucomatous optic neuropathy is elevated intraocular pressure, but many other factors have been identified. A vascular component seems to play an important role in the pathogenesis and/or progression of glaucomatous optic neuropathy, either under the influence of ocular hypertension or as an independent risk factor, particularly as in normal tension glaucoma (NTG).

[A case of post-traumatic paracentral acute middle maculopathy associated with glaucoma].

Paracentral acute middle maculopathy is a lesion of the inner nuclear layer and outer plexiform layer of the macula associated with local or systemic vascular diseases that can induce retinal hypoxia. The etiologic mechanism may be related to the increase in intraocular pressure which creates conditions of hypoperfusion in the retinal vasculature. We present a case that shows a possible association between paracentral acute middle maculopathy and glaucoma with the trauma of elevated intraocular pressure as a triggering event.

Pivotal Role of Mass Spectrometry for the Assessment of Exposure to Reactive Chemical Contaminants: From the Exposome to the Adductome.

A large part of the Human chemical exposome is now well characterized, and its health effects has been widely documented, although precise causal links remain difficult to establish. In parallel, genetic factors only were shown to contribute less than 30% to various pathologies. Therefore, environmental factors may represent the predominant cause of chronic diseases.

Ultrafast adaptive optics for imaging the living human eye.

Adaptive optics (AO) is a powerful method for correcting dynamic aberrations in numerous applications. When applied to the eye, it enables cellular-resolution retinal imaging and enhanced visual performance and stimulation. Most ophthalmic AO systems correct dynamic aberrations up to 1-2 Hz, the commonly-known cutoff frequency for correcting ocular aberrations.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in CFAP410, a ciliary gene previously associated with recessive Jeune syndrome. We detected twelve variants, eight of which were novel, including c.

Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy.

Our aim was to assess the visual outcomes of patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A MT-ND4 mutation who had no treatment (natural history) or received idebenone or lenadogene nolparvovec. Efficacy outcomes included clinically relevant recovery (CRR) from nadir and final best-corrected visual acuity (BCVA).

Baseline characteristics of the first 302 patients included for acute malignant hypertension crisis in the prospective multidisciplinary HAMA cohort.

Background: Malignant hypertension has not disappeared and remains the most severe form of hypertension. More than 100 years after its description, many points remain unanswered. Mechanisms, definitions, and optimal treatment are still controversial.

Cellular pattern and orbital fat involvement are possible risk factors for the failure of corticosteroids in patients with pure idiopathic orbital inflammation syndrome: lessons from the French prospective cohort study (part II).

Purpose: To better characterise the effects of corticosteroids on the course of pure idiopathic orbital inflammation syndrome (pIOIS).

Methods: This was a national, multicentre, prospective, non-interventional cohort study (). Among the 35 patients with histologically proven orbital inflammation who had previously been studied for their IgG4 immunostaining status, we selected those with a negative IgG4 status (ie, pIOIS) who received corticosteroids as single first-line treatment.

Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.

A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy carrying the homozygous c.910-7G>A variant in UBAP1L. Three isogenic control iPSC lines derived from this affected subject line were created using CRISPR/Cas9 engineering.

Loss of ON-Pathway Function in Mice Lacking Lrit3 Decreases Recovery From Lens-Induced Myopia.

Purpose: To determine whether the Lrit3-/- mouse model of complete congenital stationary night blindness with an ON-pathway defect harbors myopic features and whether the genetic defect influences the recovery from lens-induced myopia.

Methods: Retinal levels of dopamine (DA) and 3,4 dihydroxyphenylacetic acid (DOPAC) from adult isolated Lrit3-/- retinas were quantified using ultra performance liquid chromatography after light adaptation. Natural refractive development of Lrit3-/- mice was measured from three weeks to nine weeks of age using an infrared photorefractometer.

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes.

ADAPTIVE OPTICS AND MULTIMODAL IMAGING FOR INFLAMMATORY VITREORETINAL INTERFACE ABNORMALITIES.

Purpose: To investigate changes to the vitreoretinal interface in uveitis with multimodal imaging including adaptive optics.

Methods: Four eyes (four patients) affected by fovea-attached (subtype 1A) or fovea-sparing epiretinal membranes (ERMs) on spectral-domain optical coherence tomography or visible internal limiting membrane (ILM) on infrared scanning laser ophthalmoscope (SLO) fundus imaging were recruited in this pilot study. The microstructure of the vitreoretinal interface was imaged using flood-illumination adaptive optics (FIAO), and the images were compared with the cross-sectional spectral-domain optical coherence tomography data.

Assessment of corneal nerve regeneration after axotomy in a compartmentalized microfluidic chip model with automated 3D high resolution live-imaging.

Introduction: Damage to the corneal nerves can result in discomfort and chronic pain, profoundly impacting the quality of life of patients. Development of novel method is crucial to better understand corneal nerve regeneration and to find new treatments for the patients. Existing models often overlook the physiology of primary sensory neurons, for which the soma is separated from the nerve endings.