Disease: Hemeralopia- familial
- <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 Call for Regular Ophthalmologist Cover for Rehabilitation Centers for the Blind
- A Comprehensive Review of Motherhood and Mental Health: Postpartum Mood Disorders in Focus
- A Different Vision: Centering Love Not Punishment for Families Affected by Substance Use
- A real-world pharmacovigilance study of FDA adverse event reporting system events for sildenafil
- 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
- An Evidence-Based Approach to Augmentative and Alternative Communication Design for Individuals With Cortical Visual Impairment
- Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome
- 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
- Associations of smoking and alcohol consumption with the development of open angle glaucoma: a retrospective cohort study
- Atypical findings: Atypical parkinsonian syndromes or Atypical parkinsonian syndromes look-alikes
- Balancing risks and benefits of cannabis use: umbrella review of meta-analyses of randomised controlled trials and observational studies
- 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
- Body appreciation around the world: Measurement invariance of the Body Appreciation Scale-2 (BAS-2) across 65 nations, 40 languages, gender identities, and age
- Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers
- Clinical and genetic analysis of essential hypertension with <em>CYB</em> gene m.15024G>A mutation
- 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 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
- Co-occurring conditions in Down syndrome: Findings from a clinical database
- 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
- 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
- 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
- Different clinical phenotypes of AQP4-IgG positive NMOSD in two first degree relatives
- Digitalising mental health care: Practical recommendations from the European Psychiatric Association
- Enhanced maternal behaviors in a mouse model of congenital blindness
- Enhancing diversity, equity, inclusion, and accessibility in eosinophilic gastrointestinal disease research: the consortium for eosinophilic gastrointestinal disease researchers' journey
- 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
- Exploring the knowledge, attitudes, and practice towards child eye health: A qualitative analysis of parent experience focus groups
- 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
- 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 Mechanisms of Migraine: Insights from Monogenic Migraine Mutations
- 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 Neurolens Use on the Quality of Life in Individuals With Headaches: A Randomized Double-Masked, Cross-Over Clinical Trial
- Impact of primary glaucoma on health-related quality of life in China: the handan eye study
- 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
- Investigation of Factors That Affect the Quality of Life After a Stroke
- Keratoconus in a young patient with itching eyes and blurred vision
- Knowledge about glaucoma among adults in Africa: a systematic review
- Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination
- Leber hereditary optic neuropathy presenting as bilateral visual loss and white matter disease
- Longitudinal Analysis of Social Isolation and Cognitive Functioning among Hispanic Older Adults with Sensory Impairments
- 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
- Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram 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 pathogenic WHRN variant causing hearing loss in a moroccan family
- Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5
- Optic Nerve Head Abnormalities in Nonpathologic High Myopia and the Relationship With Visual Field
- 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
- PCSK6 exacerbates Alzheimer's disease pathogenesis by promoting MT5-MMP maturation
- PEGylated-liposomal astaxanthin ameliorates Aβ neurotoxicity and Alzheimer-related phenotypes by scavenging formaldehyde
- Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model Rho<sup>P23H+/</sup><sup></sup>
- 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
- Prunella vulgaris L. attenuates gut dysbiosis and endotoxin leakage against alcoholic liver disease
- Relationship between severe mental illness and physical multimorbidity: a meta-analysis and call for action
- Screening copy number variations in 35 unsolved inherited retinal disease families
- Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants
- Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <em>CHD3</em> and Literature Review
- 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 NLRP3 inflammasome for neurodegenerative disorders
- The role of inflammasomes in human diseases and their potential as therapeutic targets
- 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
- Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy
- Understanding falls and its prevention among adults with visual impairment through behavior change models
- Use of traditional and complementary medicine by ethnic Indian women living with polycystic ovary syndrome: a global survey
- Viral Vectors in Gene Replacement Therapy
- Vision Testing for Adolescents in the US
- Vision-related quality of life in patients with childhood-onset craniopharyngioma
- 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