De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.

Syndromic Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.

Exposure and Sensitivity of Terrestrial Vertebrates to Biological Invasions Worldwide.

While biological invasions continue to threaten biodiversity, most of current assessments focus on the sole exposure to invasive alien species (IAS), without considering native species' response to the threat. Here, we address this gap by assessing vertebrates' vulnerability to biological invasions, combining measures of both (i) exposure to 304 identified IAS and (ii) realized sensitivity of 1600 native vertebrates to this threat. We used the IUCN Red List of Threatened Species to identify species threatened by IAS, their distribution, and the species' range characteristics of their associated IAS.

Unexpected soundscape response to insecticide application in oak forests.

Rachel Carson's warning of a silent spring directed attention to unwanted side effects of pesticide application. Though her work led to policies restricting insecticide use, various insecticides currently in use affect nontarget organisms and may contribute to population declines. The insecticide tebufenozide is used to control defoliating Lepidoptera in oak forests harboring rich insect faunas.

Elucidating metabolic tuning of mixed purple phototrophic bacteria biofilms in photoheterotrophic conditions through microbial photo-electrosynthesis.

Reducing greenhouse gas emissions is critical for humanity nowadays, but it can be beneficial by developing engineered systems that valorize CO into commodities, thus mimicking nature's wisdom. Purple phototrophic bacteria (PPB) naturally accept CO into their metabolism as a primary redox sink system in photo-heterotrophy. Dedicated use of this feature for developing sustainable processes (e.

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease.

Purpose: To design and build a new disease registry to track the natural history and outcomes of approved gene therapy in patients with inherited retinal diseases.

Methods: A core committee of six members was convened to oversee the construction of the Fight Inherited Retinal Blindness! module. A further 11 experts formed a steering committee, which discussed disease classification and variables to form minimum datasets using a consensus approach.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or 'wolframinopathies', exhibit a spectrum of ocular and systemic phenotypes, of which the autosomal recessive Wolfram syndrome has been the most extensively studied. AD mutations in WFS1 also cause various phenotypical changes including OA.

DIAGNOSTIC YIELD OF AN INHERITED RETINAL DISEASE GENE PANEL IN RETINOPATHY OF UNKNOWN ORIGIN.

Purpose: Evaluating the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO).

Methods: Multicentric retrospective study of RUO cases diagnosed between January 2012 and February 2022. General and ophthalmologic history, complete ophthalmologic examination, antiretinal antibodies, and IRD gene panel results were analyzed in every patient.

Atomically Precise Graphene Nanoribbon Transistors with Long-Term Stability and Reliability.

Atomically precise graphene nanoribbons (GNRs) synthesized from the bottom-up exhibit promising electronic properties for high-performance field-effect transistors (FETs). The feasibility of fabricating FETs with GNRs (GNRFETs) has been demonstrated, with ongoing efforts aimed at further improving their performance. However, their long-term stability and reliability remain unexplored, which is as important as their performance for practical applications.

Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12-Associated Inherited Retinal Degeneration.

A multi-stakeholder, patient centric approach will be critical to the design of future successful clinical trials with outcome measures relevant to the RDH12-IRD population.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age.

Forecasting potential invaders to prevent future biological invasions worldwide.

The ever-increasing and expanding globalisation of trade and transport underpins the escalating global problem of biological invasions. Developing biosecurity infrastructures is crucial to anticipate and prevent the transport and introduction of invasive alien species. Still, robust and defensible forecasts of potential invaders are rare, especially for species without known invasion history.

Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review.

Background: Vision has a key role in children's neuromotor, cognitive and social development. Children with visual impairment attain developmental milestones at later stages and are at higher risk of developing psychological disorders and social withdrawn.

Aims: We performed a scoping review to summarize the mostly used instruments assessing the impact of visual impairment on quality of life, functioning and participation of children and adolescents.