Disease: Hemeralopia- congenital essential
- A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis
- A novel <em>WFS1</em> variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
- A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
- A possible key role of vision in the development of schizophrenia
- A profound computational study to prioritize the disease-causing mutations in PRPS1 gene
- AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells
- Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness
- Analysis of Interaction and Attention Processes in a Child With Congenital Deafblindness
- ATF6 is essential for human cone photoreceptor development
- Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
- Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
- Bilateral severe microphthalmos with bilateral colobomatus orbitopalpebral cyst: accessibility of speciality eye-care and rehabilitation services in low and middle-income countries
- Brown's syndrome
- Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment
- CHARGE: an association or a syndrome?
- Child and Adolescent Health From 1990 to 2015: Findings From the Global Burden of Diseases, Injuries, and Risk Factors 2015 Study
- Clinical Research on the Leading Causes of Severe Sight Impairment in the UK General and Working Populations
- Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome
- Color vison deficiency among medical students: an unnoticed problem
- Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
- Congenital cataract: a guide to genetic and clinical management
- Congenital Cataract: Progress in Surgical Treatment and Postoperative Recovery of Visual Function
- Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia
- Congenital Tarsal Kink Syndrome: Literature Review and Case Report
- Congenital thrombocytopenia with nephritis - The first case of MYH9 related disorder in Serbia
- Conjunctivitis
- Conjunctivitis
- Consolidating the association of biallelic <em>MAPKAPK5</em> pathogenic variants with a distinct syndromic neurodevelopmental disorder
- Corneal dystrophy (CD)-induced pain and visual impairment in childhood
- De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
- Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice
- Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial
- Diagnostics, clinical aspects and genetics of congenital corneal opacities
- Different Activity Patterns in Retinal Ganglion Cells of TRPM1 and mGluR6 Knockout Mice
- Diseases of the corneal endothelium
- Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians
- Enhanced maternal behaviors in a mouse model of congenital blindness
- Evaluation of the red reflex: An overview for the pediatrician
- Eye disorders in newborn infants (excluding retinopathy of prematurity)
- Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review
- Fish to learn: insights into the effects of environmental chemicals on eye development and visual function in zebrafish
- Genes and pathways in optic fissure closure
- Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism
- Glutaminolysis is Essential for Energy Production and Ion Transport in Human Corneal Endothelium
- Grasping behavior does not recover after sight restoration from congenital blindness
- Ground reaction forces during stair ascending and descending in congenitally blind and sighted individuals
- Gβ3 is required for normal light ON responses and synaptic maintenance
- Hereditary Retinal Dystrophy
- Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
- Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome
- Impact of timing of surgery on outcome in children with bilateral congenital cataract
- Impact of visual learning on facial expressions of physical distress: a study on voluntary and evoked expressions of pain in congenitally blind and sighted individuals
- Improved visual acuity after frontalis sling surgery for simple congenital ptosis
- Inhibition of Foxp4 Disrupts Cadherin-based Adhesion of Radial Glial Cells, Leading to Abnormal Differentiation and Migration of Cortical Neurons in Mice
- Intracranial causes of ophthalmoplegia: the visual reflex pathways
- Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness
- Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome
- LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells
- Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in <em>TULP1</em> in a patient with early onset retinal dystrophy
- Maternal xNorrin, a canonical Wnt signaling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus
- Modality dependent cross-modal functional reorganization following congenital visual deprivation within occipital areas: a meta-analysis of tactile and auditory studies
- Nasolacrimal duct obstruction: Does it really increase the risk of amblyopia in children?
- Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
- Ophthalmological rehabilitation of visually impaired children
- Optical Coherence Tomography Angiography Assessment in Congenital Aniridia
- Oral health status and dental care for individuals with visual impairment. A narrative review
- Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance
- Perspectives on Retinal Dolichol Metabolism, and Visual Deficits in Dolichol Metabolism-Associated Inherited Disorders
- Phacoemulsification of the rock-hard dense nuclear cataract: Options and recommendations
- Post-developmental plasticity of the primary rod pathway allows restoration of visually guided behaviors
- Prevalence of colour vision deficiency in the Republic of Ireland schoolchildren and associated socio-demographic factors
- Prevalence of ocular morbidity among children aged 17 years or younger in the eastern India
- Quantitative definition of neurobehavior, vision, hearing and brain volumes in macaques congenitally exposed to Zika virus
- Rapid and efficient cataract gene evaluation in F0 zebrafish using CRISPR-Cas9 ribonucleoprotein complexes
- Red reflex screening in New Zealand: a large survey of practices and attitudes in the Auckland region
- Restoration of vision after de novo genesis of rod photoreceptors in mammalian retinas
- Retinal guanylyl cyclase activation by calcium sensor proteins mediates photoreceptor degeneration in an <em>rd3</em> mouse model of congenital human blindness
- Retinal guanylyl cyclase activation by calcium sensor proteins mediates photoreceptor degeneration in an rd3 mouse model of congenital human blindness
- Retinal phenotypic characterization of patients with <em>ABCA4</em> retinopathydue to the homozygous p.Ala1773Val mutation
- Retrieval and phenomenology of autobiographical memories in blind individuals
- Retrospective data on causes of childhood vision impairment in Eritrea
- Sensory and motor clinical presentation of congenital retraction syndromes: Stilling-Duane and Brown syndrome
- Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration
- Systematic review of cochlear implantation in CHARGE syndrome
- Tactile maze solving in congenitally blind individuals
- The Foundation Fighting Blindness Plays an Essential and Expansive Role in Driving Genetic Research for Inherited Retinal Diseases
- The Genetics and the Genomics of Primary Congenital Glaucoma
- The importance of genetic testing as demonstrated by two cases of <em>CACNA1F</em>-associated retinal generation misdiagnosed as LCA
- The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors
- The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention
- Toward Universal Eye Health Coverage-Key Outcomes of the World Health Organization Package of Eye Care Interventions: A Systematic Review
- Treatment of congenital and early childhood cataract
- Treatment of congenital and early childhood cataract
- TRPM1 mutations are associated with the complete form of congenital stationary night blindness
- Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness
- Vascular anomalies of the head and neck
- Vision matters for shape representation: Evidence from sculpturing and drawing in the blind
- Visual performance and brain structures in the developing brain of pre-term infants
- Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease
- Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation