A diagnosis of age-related macular degeneration (AMD) may have a significant impact on a patient's life. Therefore, it is important to consider differential diagnoses, as these can differ considerably from AMD regarding prognosis, inheritance, monitoring and therapy. Differential diagnoses include other macular diseases with drusen, drusen-like changes, monogenic retinal dystrophies, as well as a wide range of other, often rare macular diseases.
View Article and Find Full Text PDFEnviron Monit Assess
October 2024
Estimates of dark diversity, species that belong to a given species pool but are not present locally, can help to understand how environmental conditions influence species distribution. However, it remains uncertain whether dark diversity can predict the absence of indicator species in preserved environments after environmental changes. We explored the sensitivity of dark diversity (the set of species absent from a particular area), in detecting the absence of Zygoptera (Odonata) indicative of preserved forest environments in altered habitats, and the influence of sample coverage on the detected patterns.
View Article and Find Full Text PDFBackground: Landmark studies reported on faricimab efficacy and safety predominantly in treatment naïve patients, but outcomes following switch from other anti-VEGF therapies are lacking. We evaluated patients switched to faricimab who had previously shown a partial response to other anti-VEGF injections for neovascular age-related macular degeneration (nAMD) and diabetic macular oedema (DMO).
Methods: Retrospective study at the Oxford Eye Hospital.
J Ophthalmic Inflamm Infect
September 2024
Purpose: We describe a case of occlusive vasculitis associated with intravitreal Faricimab (Vabysmo) injections.
Methods: A retrospective case report.
Results: A 52-year old man treated with monthly Faricimab injections for diabetic macula oedema presented with sudden reduced vision, new retinal hemorrhages, significant retinal vascular occlusions and ischemia.
Background: (Cilia and Flagella Associated Protein 410) encodes a protein that has an important role in the development and function of cilia. In ophthalmology, pathogenic variants in have been described in association with cone rod dystrophy, retinitis pigmentosa, with or without macular staphyloma, or with systemic abnormalities such as skeletal dysplasia and amyotrophic lateral sclerosis. Herein, we report a consanguineous family with a novel homozygous c.
View Article and Find Full Text PDFmedRxiv
August 2024
Purpose: To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients.
Design: Retrospective study of imaging data (55-degree blue-FAF on Heidelberg Spectralis) from patients.
Participants: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone FAF 55-degree imaging at Moorfields Eye Hospital (MEH) and the Royal Liverpool Hospital (RLH) between 2004 and 2019.
Introduction: Anti-vascular endothelial growth factor (anti-VEGF) agents may occasionally need to be considered for sight-threatening macular pathology in pregnant and breastfeeding women. This is controversial due to the dearth of data on systemic side effects for mother and child. We aimed to expand the evidence base to inform management.
View Article and Find Full Text PDFPurpose: 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.
Purpose: To analyze the clinical characteristics, natural history, and genetics of CERKL-associated retinal dystrophy in the largest series to date.
Design: Multicenter retrospective cohort study.
Subjects: Forty-seven patients (37 families) with likely disease-causing CERKL variants.
Purpose: We describe a case of vitreous haemorrhage and retinal neovascularization secondary to peripheral retinal ischemia associated with disseminated melanoma.
Methods: A retrospective case report.
Results: A 48-year-old man presented with vitreous haemorrhage in the right eye, peripheral retinal ischemia, and retinal neovascularization in both eyes.
A 75-year-old caucasian female presented with sudden severe visual deterioration in one eye reduced from 6/9 to counting fingers (CF), with second eye reduction in vision from 6/9 to CF three months later. Past medical history included a background of proliferative diabetic retinopathy, uncontrolled blood pressure, and a 44-year history of poorly controlled type 1 diabetes mellitus (T1DM). Previous ocular history included bilateral pan-retinal photocoagulation for proliferative diabetic retinopathy, followed by bilateral vitrectomies, with subsequent bilateral cataract surgery with intraocular lens implants.
View Article and Find Full Text PDFWe conducted a systematic review to better understand this gap and analyzed i) in which global regions are studies usually conducted, ii) the taxon studied, iii) sampling methods and iv) how authors collaborated in these studies. We also tested the relationship between different types of land use and land cover and adult EPT communities using a meta-analysis. We searched for relevant articles on the website Web of Science, using specific words related to the subject.
View Article and Find Full Text PDFInherited retinal degenerations such as retinitis pigmentosa (RP) affect around one in 4000 people and are the leading cause of blindness in working age adults in several countries. In these typically monogenic conditions, there is progressive degeneration of photoreceptors; however, inner retinal neurons such as bipolar cells and ganglion cells remain largely structurally intact, even in end-stage disease. Therapeutic approaches aiming to stimulate these residual cells, independent of the underlying genetic cause, could potentially restore visual function in patients with advanced vision loss, and benefit many more patients than therapies directed at the specific gene implicated in each disorder.
View Article and Find Full Text PDFBackground: Pentosan polysulfate-related maculopathy is a recently described clinical entity, related to dose and long term use of this medication, and may progress despite drug cessation. Cystoid macular oedema (CMO) has been reported in some cases, but there are few reports of treatment outcomes in the literature.
Aims: We present the case of a 55 year old female, with CMO secondary to pentosan polysulfate maculopathy, that was responsive to treatment with both intravitreal anti-VEGF and steroid injections, stabilising vision over a four year follow up period.
Pathogenic variants in retinol dehydrogenase 5 (RDH5) attenuate supply of 11-cis-retinal to photoreceptors leading to a range of clinical phenotypes including night blindness because of markedly slowed rod dark adaptation and in some patients, macular atrophy. Current animal models (such as Rdh5-/- mice) fail to recapitulate the functional or degenerative phenotype. Addressing this need for a relevant animal model we present a new domestic cat model with a loss-of-function missense mutation in RDH5 (c.
View Article and Find Full Text PDFBackground/aims: To describe clinical and multimodal imaging features in a cohort of choroidal macrovessels.
Methods: Demographics and multimodal imaging features of 16 eyes of 13 patients with choroidal macrovessels were reviewed. The multimodal imaging included colour fundus photography, fundus autofluorescence (FAF), spectral domain enhanced depth imaging optical coherence tomography (OCT), en face OCT, OCT-angiography (OCT-A), B-scan ultrasonography (US), fluorescein angiography (FFA) and indocyanine green angiography (ICGA).
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without syndromic features. Many are X-linked recessive, but several exhibit a phenotype in female carriers, which can help establish diagnosis and yield insights into disease mechanisms.
View Article and Find Full Text PDFBackground/aims: To describe and summarise the outcomes reported in randomised controlled trials of multifocal versus monofocal intraocular lenses in cataract surgery.
Methods: We identified all randomised controlled trials of multifocal versus monofocal lenses in a Cochrane review (last search date June 2016). We extracted and summarised data on all outcomes reported using the framework of domain, measurement, metric and method of aggregation.