Peripapillary retinal nerve fibre layer thinning in patients with X-linked retinoschisis.

Aims: To assess peripapillary retinal nerve fibre layer (pRNFL) thickness in patients with X-linked retinoschisis (XLRS), as pRNFL thinning may limit functional improvements in gene therapy trials.

Methods: This retrospective multicentre study included 49 eyes from 25 patients diagnosed with XLRS. Data collected with multimodal imaging at baseline and last follow-up (when available) included age, best-recorded visual acuity (BRVA), central retinal thickness, macular volume (MV), presence and location of peripheral retinoschisis and pRNFL thickness in the global (G), superotemporal (TS), superonasal (NS), inferotemporal (TI), inferonasal (NI), nasal (N) and temporal (T) sectors.

Greener intravitreal injections: a narrative review.

Healthcare services are significant contributors to climate change. Ophthalmology, by virtue of the volume of appointments and procedures it generates, is thought to play a major role in this regard. Intravitreal injections (IVI) are a commonly performed ophthalmological procedure to treat patients with conditions such as macular neovascularisation secondary to neovascular age-related macular disease or myopia, diabetic macular oedema, and retinal vein occlusions.

Intravitreal Injections: Improving Sustainability by Reducing Clinical Waste.

Background: Intravitreal injections are one of the most commonly performed ophthalmic procedures. It is estimated that over 1 million intravitreal injections are performed in Germany annually. The aim of this study was to quantify the waste and carbon footprint associated with single-use injection sets, and to establish a waste reduction strategy.

Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.

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.

IMPG2-Related Maculopathy.

Purpose: To investigate the phenotype, variability, and penetrance of IMPG2-related maculopathy.

Design: Retrospective observational case series.

Methods: Clinical evaluation, multimodal retinal imaging, genetic testing, and molecular modeling.

Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia.

Purpose: In patients with choroideremia, it is not known how smooth and mottled patterns on short-wavelength fundus autofluorescence (AF) imaging relate to retinal function.

Methods: A retrospective case-note review was undertaken on 190 patients with choroideremia at two specialist centers for retinal genetics. Twenty patients with both smooth and mottled zones on short-wavelength AF imaging and concurrent mesopic microperimetry assessments were included.

Fundus autofluorescence imaging using red excitation light.

Retinal disease accounts significantly for visual impairment and blindness. An important role in the pathophysiology of retinal disease and aging is attributed to lipofuscin, a complex of fluorescent metabolites. Fundus autofluorescence (AF) imaging allows non-invasive mapping of lipofuscin and is a key technology to diagnose and monitor retinal disease.

X-Linked Retinoschisis Masquerading Uveitis.

X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS ( = 4), and patients referred to a clinic for inherited retinal diseases ( = 18) were included.

PHOTORECEPTOR DAMAGE IN TERSON SYNDROME.

Purpose: To describe photoreceptor damage in patients with Terson syndrome as a potential cause for inconsistent clinical outcomes.

Methods: Clinical evaluation and retinal imaging in six patients.

Results: Four patients were women and two men, with an average age of 46.

Topographic patterns of retinal lesions in multiple evanescent white dot syndrome.

Purpose: To demonstrate different topographic distributions of multiple-evanescent white dot syndrome (MEWDS) and secondary MEWDS disease and to describe possible associations.

Methods: Clinical evaluation and multimodal retinal imaging in 27 subjects with MEWDS (29 discrete episodes of MEWDS). Ophthalmic assessment included best-corrected visual acuity testing and multimodal retinal imaging with OCT, blue-light autofluorescence, fluorescein and indocyanine green angiography, fundus photography, and widefield pseudocolor and autofluorescence fundus imaging.

Impaired glutamylation of RPGR underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.

Pathogenic variants in the gene lead to a clinically severe form of X-linked retinal dystrophy. However, it remains unclear why some variants cause a predominant rod, while others result in a cone-dominated phenotype. Post-translational glutamylation of the photoreceptor-specific RPGR isoform by the TTLL5 enzyme is essential for its optimal function in photoreceptors, and loss of TTLL5 leads to retinal dystrophy with a cone phenotype.

The retinal phenotype in primary hyperoxaluria type 2 and 3.

Background: The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, primarily the kidneys, bones, heart, and eyes. Vision loss induced by severe retinal deposits is commonly seen in infantile PH1; less frequently and milder retinal alterations are found in non-infantile PH1.

[Sustainability in ophthalmology : Adaptation to the climate crisis and mitigation].

The climate crisis is threatening the health of current and future generations and represents a particular challenge for healthcare systems. To address man-made climate change, comprehensive adaptation and mitigation strategies are crucial. Medicine and ophthalmology offer various opportunities to reduce the CO (carbon dioxide) footprint - these should be implemented and politically encouraged.

-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.

To report the clinical phenotype and associated genotype of a European patient cohort with -related autosomal-dominant (AD) cone-/cone-rod dystrophy (COD/CORD), we retrospectively analyzed 25 patients (17 female, range 12-68) with -related AD-COD/CORD from three major academic centers in Europe and reviewed the previously published data of 148 patients (visual acuity (VA), foveal thickness, age of first symptoms, and genetic variant). Considering all the patients, the onset of first symptoms was reported at a median age of 7 years (interquartile range 5-19 years, = 78), and mainly consisted of reduced VA, photophobia and color vision abnormality. The disease showed a high degree of inter-eye symmetry in terms of VA ( = 165, Spearman's ρ = 0.

Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.

Purpose: To elucidate morphological determinants of rod and cone dysfunction in Sorsby fundus dystrophy (SFD), and to systematically compare visual function tests for interventional trials.

Design: Prospective cross-sectional study.

Methods: Patients with SFD (n = 16) and controls (n = 20) underwent visual function testing (best-corrected visual acuity [BCVA] and low luminance visual acuity [LLVA], contrast sensitivity, mesopic and dark-adapted (DA) fundus-controlled perimetry [FCP], rod-mediated dark adaptation [RMDA]), and multimodal imaging.

Multiple Evanescent White Dot Syndrome (MEWDS) Associated with Progression of Lacquer Cracks in High Myopia.

Purpose: To report a case of multiple evanescent white dot syndrome (MEWDS) associated with acute progression of lacquer cracks in high myopia.

Case Report: A 41-year-old female patient with high myopia developed typical signs, symptoms, and disease course of MEWDS in her right eye. At the same time, the same eye showed progression of lacquer cracks when compared to images taken 2 months prior.

Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa.

Purpose: To investigate multimodal retinal imaging characteristics including the retinal nerve fiber layer (RNFL) thickness in patients with RPGR-associated retinitis pigmentosa (RP).

Methods: This cross-sectional case-control study included 17 consecutive patients (median age, 21 years) with RPGR-associated RP who underwent retinal imaging including optical coherence tomography (OCT), short-wavelength fundus autofluorescence (AF) imaging, and RNFL scans centered on the optic disc. RNFL thickness was manually segmented and compared to clinical and imaging parameters including the transfoveal ellipsoid zone (EZ) width, the horizontal diameter of the macular hyperautofluorescent ring.

NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.

Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, the gene product of NPHP1, is also expressed in photoreceptors where it plays an important role in intra-flagellar transport between the inner and outer segments. However, the human retinal phenotype has never been investigated in detail.