• <em>CHD7</em> Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction
• <em>GPR143</em> mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China
• <em>miR-429-3p</em> mediates memory decline by targeting MKP-1 to reduce surface GluA1-containing AMPA receptors in a mouse model of Alzheimer's disease
• 32-year-old diabetic patient with progressive vision loss and crystalline retinopathy
• A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
• A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders
• A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors
• AI Can Improve the Economics of Blindness Prevention in Canada
• Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome
• Assessment of Knowledge of Parents of Children with Cortical Visual Impairment: An Interventional Study
• Association of socioeconomic position with sensory impairment among Chinese population: a nationally representative cohort and Mendelian randomization study
• Associations between regular physical exercise and physical, emotional, and cognitive health of older adults in China: an 8-year longitudinal study with propensity score matching
• Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
• Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort
• Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
• Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder
• Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers
• Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
• Clinical and mutational characteristics of oculocutaneous albinism type 7
• Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia
• Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study
• Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss
• Clinical, electrophysiologic and serologic evidence of cancer associated retinopathy preceding a diagnosis of breast cancer
• Coding and non-coding variants in the ciliopathy gene <em>CFAP410</em> cause early-onset non-syndromic retinal degeneration
• Collaboration of health and education sectors drives equity for children with complex disabilities in China
• Common Data Elements for Disorders of Consciousness: Recommendations from the Working Group in the Pediatric Population
• Comorbid health conditions in people with attention-deficit/hyperactivity disorders: An umbrella review of systematic reviews and meta-analyses
• Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes
• Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach
• Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients. A dialogic approach
• Describing the Eye Health of Newly Arrived Refugees in Adelaide, South Australia
• Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function
• Diagnostic accuracy of research criteria for prodromal frontotemporal dementia
• Digitalising mental health care: Practical recommendations from the European Psychiatric Association
• DNA methylation patterns in umbilical cord blood from infants of methadone maintained opioid dependent mothers
• Enrollment in High-Deductible Health Plans and Incident Diabetes Complications
• Evaluation of functional vision and eye-related quality of life in children with congenital ectopia lentis: a prospective cross-sectional study
• Exacerbation of central serous chorioretinopathy during trauma-confronting psychotherapy- a case report
• Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family
• Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
• Eye Donation Counsellor Skill Evaluation Tool (EDC-SET): A step toward improved eye donation counseling
• Feasibility of a new 'balanced binocular viewing' treatment for unilateral amblyopia in children aged 3-8 years (BALANCE): results of a phase 2a randomised controlled feasibility trial
• Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family
• Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children
• Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis
• Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards
• Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system
• Global age-sex-specific mortality, life expectancy, and population estimates in 204 countries and territories and 811 subnational locations, 1950-2021, and the impact of the COVID-19 pandemic: a comprehensive demographic analysis for the Global Burden of
• Global Burden of Cardiovascular Diseases and Risks, 1990-2022
• Human antigen R: Exploring its inflammatory response impact and significance in cardiometabolic disorders
• Identification of a novel compound heterozygous pathogenic variant in <em>MYO7A</em> causing Usher syndrome type IB in a Chinese patient: a case report
• Impact of neonatal sepsis on neurocognitive outcomes: a systematic review and meta-analysis
• Impact of Neurolens Use on the Quality of Life in Individuals With Headaches: A Randomized Double-Masked, Cross-Over Clinical Trial
• Individual, family, and environmental determinants of vision-related quality of life of children and young people with visual impairment
• Initiation of China Alliance of Research in High Myopia (CHARM): protocol for an AI-based multimodal high myopia research biobank
• Knowledge about glaucoma among adults in Africa: a systematic review
• Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination
• Leber hereditary optic neuropathy in Czechia and Slovakia: Quality of life and costs from patient perspective
• Living with an artificial eye: qualitative insights into patient and family member experiences
• Long-term visual outcomes in spasmus nutans
• Management of Contact Lenses and Visual Development in Pediatric Aphakia
• Molecular interplay between phytoconstituents of Ficus Racemosa and neurodegenerative diseases
• Multiple rod layers increase the speed and sensitivity of vision in nocturnal reef fishes
• Multisensory perceptual distortion including auditory distortions in Alice in Wonderland syndrome: a case report
• Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report
• Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree
• Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome
• Outcomes of Telerehabilitation Versus In-Office Training With Magnification Devices for Low Vision: A Randomized Controlled Trial
• Parent strategies for improving compliance with eyeglass wear in young children
• Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials
• PCSK6 exacerbates Alzheimer's disease pathogenesis by promoting MT5-MMP maturation
• PEGylated-liposomal astaxanthin ameliorates Aβ neurotoxicity and Alzheimer-related phenotypes by scavenging formaldehyde
• Perceptions of vision care following neurological impairment: a qualitative study
• Person-centered care for common mental disorders in Ontario's primary care patient-centered medical homes: a qualitative study of provider perspectives
• PolyI:C Maternal Immune Activation on E9.5 Causes the Deregulation of Microglia and the Complement System in Mice, Leading to Decreased Synaptic Spine Density
• Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model Rho^P23H+/
• Prenatal Magnesium Sulfate and Functional Connectivity in Offspring at Term-Equivalent Age
• Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia
• Prevalence and Risk Factors of Self-reported Vision Impairment among Native Hawaiians and Pacific Islanders in the United States
• Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review
• Screening copy number variations in 35 unsolved inherited retinal disease families
• Screening Strategies and Methodologies
• Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants
• Social functioning in adults with visual impairment from minority ethnic communities in the United Kingdom
• Spastic Paraplegia Type 7-Associated Optic Neuropathy: A Case Series
• Targeting Relevant HDACs to Support the Survival of Cone Photoreceptors in Inherited Retinal Diseases: Identification of a Potent Pharmacological Tool with In Vitro and In Vivo Efficacy
• The blind spots of psychiatric reform in Greece
• The role of inflammasomes in human diseases and their potential as therapeutic targets
• The Sleep Health of Individuals with Visual Impairments: A Scoping Review
• The socioeconomic epidemiology of inherited retinal diseases in Portugal
• Through the Eyes of Uncertainty: Giant Cell Arteritis and Lyme Neuroborreliosis in a Story of Vision Loss
• Understanding falls and its prevention among adults with visual impairment through behavior change models
• Viral Vectors in Gene Replacement Therapy
• Vision Screening for Children
• Visual impairment among diabetes patients in Ethiopia: A systematic review and meta-analysis
• Vitamin D knowledge, awareness and practices of female students in the Southwest of Saudi Arabia: A cross-sectional study
• When Imagination Feels Like Reality: A Case Study of False Memories and Maladaptive Daydreaming in Visual Impairment
• Whole Exome Sequencing as an Effective Molecular Diagnosis Tool for Craniofacial Fibrous Dysplasia with Ocular Complications
• Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants
• XBP1 splicing contributes to endoplasmic reticulum stress-induced human islet amyloid polypeptide up-regulation