You searched for "Retina"
PRPF31-related retinitis pigmentosa and asymptomatic carriers
The authors present a study of 21 patients with variants in the PRPF31 gene classified as pathogenic or likely pathogenic. These variants are caused by autosomal dominant retinitis pigmentosa (RP-11). Between January 2020 and November 2021 patients underwent tests of...
Reproductive counselling for females with X-linked inherited retinal diseases
The authors report a survey-based study of 118 female patients who were genetically confirmed carriers or obligate carriers of an X-linked inherited retinal disease. The majority (66.9%) of these patients were carriers of choroideremia; other diagnoses included retinitis pigmentosa, X-linked...
Ethnic disparities in diagnostic sequencing yield
The authors present a systematic review and meta-analysis of the diagnostic yield of next generation sequencing (NGS) for inherited retinal diseases and compare yield from studies performed primarily on patients of European descent from those primarily of East Asian descent....Heidelberg Engineering Celebrates Eye2Gene™ AI Breakthrough in Precision Ophthalmology
Heidelberg Engineering proudly announces a significant advance in the use of artificial intelligence for ophthalmic diagnostics, with the publication of the Eye2Gene™ study in Nature Machine Intelligence. Titled “Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene”, the...
Recommendation for wide angle fluorescein angiography to diagnose FEVR in NEDSDV
Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a genetic disease described in 2012 associated with variants in the CTNNB1 gene which encodes beta-catenin. Characteristics include strabismus, reduced visual acuity and familial exudative retinopathy (FEVR). In this study,...Ophthalmology specialty training applications: a costly affair?
Ophthalmology is one of the most competitive specialties to pursue training in worldwide. In the United Kingdom, the ST1 entry national selection competition ratio for the past few years has ranged between four to five applicants per post [1]. The...Are we short-sighted about myopia?
Worldwide prevalence of myopia has increased rapidly in recent years and has now reached epidemic levels, particularly in South-East Asia where prevalence is around 80% [1-4]. Myopia prevalence is also increasing in the United States and Europe where it is...Acute retinal necrosis presumably caused by Epstein-Barr virus infection
Acute retinal necrosis (ARN) is an uncommon, but serious and potentially blinding condition. ARN is characterised by panuveitis, occlusive vasculopathy and progressive peripheral necrotising retinitis. The diagnosis is clinical but confirmation is sought via aqueous and vitreous sampling. Varicella zoster...
Handbook of Retinal OCT (Second Edition)
Duker et al. present the second edition of their Handbook of Retinal OCT. It’s an upgrade from their last edition in many respects – there’s an enhanced digital version, the pages have a nice glossy sheen which makes it feel...
Risk of intraocular haemorrhage with new oral anticoagulants
The authors conducted a study to assess the risk of intraocular haemorrhage with warfarin dabigatran, rivaroxaban, apixaban. All reported cases of intraocular haemorrhage (vitreous, choroidal, or retinal) with warfarin and new oral anticoagulants (NOACs) (including dabigatran, rivaroxaban, apixaban) from the...
Intravitreal ranibizumab for the treatment of myopic CNV
The authors conducted a prospective study. Sixty-four patients (65 eyes) attended the 12-month follow-up examination. The mean patient age was 47.8 years. Fifty-five patients (86.0%) were females. All patients had pathologic myopia (a spherical equivalent of more than − 6.0...
