Congenitally blind

If a congenitally blind person learns to distinguish between a cube and a sphere by touch, would they immediately recognize these objects by sight once their vision is restored? This question, posed by Molyneux in 1688, has puzzled philosophers and scientists since then. To overcome ethical and practical difficulties in the investigation of cross-modal recognition, we studied inexperienced poultry chicks, which can be reared in darkness until the moment of a visual test with no detrimental consequences. After hatching chicks in darkness, we exposed them to either tactile smooth or tactile bumpy stimuli for 24 h...

BACKGROUND: Congenital cataract is a common cause of blindness. Genetic factors always play important role. MATERIAL AND METHODS: This study identified a novel missense variant (c.1412C>T (p.P471L)) in the EZR gene in a four-generation Chinese family with nuclear cataract by linkage analysis and whole-exome sequencing. A knockout study in zebrafish using transcription activator-like effector nucleases was carried out to gain insight into candidate gene function...

Face recognition is important for both visual and social cognition. While prosopagnosia or face blindness has been known for seven decades and face specific neurons for half a century, the molecular genetic mechanism is not clear. Here we report results after 17 years of research with classic genetics and modern genomics. From a large family with 18 congenital prosopagnosia (CP) members with obvious difficulties in face recognition in daily life, we uncovered a fully cosegregating private mutation in the MCTP2 gene which encodes a calcium binding transmembrane protein expressed in the brain...

There is a higher incidence of diagnosed Autism Spectrum Disorder (ASD) in children with visual impairment and blindness (VIB) than in typically sighted children. However, we currently lack appropriate assessment measures to fully understand the neurodevelopment of children with VIB. Numerous factors, such as common characteristics between children with VIB and ASD and the reliance of visual behaviours in assessments of ASD, complicate the clinical and diagnostic understanding of these children. This scoping review aims to describe the published knowledge on ASD assessment in children with VIB...

Genetic diseases affecting the retina can result in partial or complete loss of visual function. Leber's Congenital Amaurosis (LCA) is a rare blinding disease, usually inherited in an autosomally recessive manner, with no cure. Retinal gene therapy has been shown to improve vision in LCA patients caused by mutations in the RPE65 gene (LCA2). However, little is known about how activity in central visual pathways is affected by the disease or by subsequent gene therapy. Functional MRI was used to assess retinal signal transmission in cortical and subcortical visual structures before and one year after retinal intervention...

BACKGROUND: This study focuses on biomarkers in infants after open heart surgery, and examines the association of high-sensitive troponin T (hs-cTnT), interleukin-6 (IL-6), and interleukin-8 (IL-8) with postoperative acute kidney injury (AKI), ventilatory support time and need of vasoactive drugs. METHODS: Secondary exploratory study from a double-blinded clinical randomized trial (Mile-1) on 70 infants undergoing open heart surgery with cardiopulmonary bypass (CPB)...

OBJECTIVE: To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure. DESIGN: Retrospective, longitudinal, single center case series. PARTICIPANTS: 122 patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom. METHODS: All case notes, results of molecular genetic testing, and optical coherence tomography (OCT) were reviewed...

OBJECTIVE: This study aimed to delineate the recovery patterns of regional oxygen saturation (SrO2 ) in pediatric cardiac surgery patients subjected to remote ischemic preconditioning (RIPC), utilizing near-infrared spectroscopy (NIRS) for quantification. It also sought to establish the correlation between these perfusion patterns and postoperative clinical outcomes. DESIGN: A prospective longitudinal observational study. SETTING: The study was conducted at (BLINDED FOR REVIEW), a high-complexity service provider institution in (BLINDED FOR REVIEW)...

OBJECTIVE: To investigate an alternative approach to family participatory nursing in neonatal intensive care units (NICUs) during the COVID-19 pandemic, focusing on auditory interventions to mitigate the effects of maternal separation (MS) on neonatal neurological development. METHODS: This study was a randomized, double-blind, prospective trial involving 100 newborns younger than 6 months old, born between January 2022 and October 2022, who experienced MS for more than 2 weeks...

BACKGROUND: Dynamic stability is a fundamental goal in standing activities. In this regard, monitoring, analysis, and interventions made to improve stability is a research topic investigated in the biomechanics of human movements. Vision has a major role to play in controlling human movement. Nonetheless, little is known about the effects of visual deprivation, especially from birth on dynamic gait stability. METHODS: The current study was conducted on 20 congenital blind and 10 sighted people (15-38 years)...

Retinal dystrophies linked to the RPE65 gene are mostly fast-progressing retinal diseases, with childhood onset of night blindness and progressive visual loss up to the middle adult age. Rare phenotypes linked to this gene are known with congenital stationary night blindness or slowly progressing retinitis pigmentosa, as well as an autosomal dominant c.1430A>G (p.Asp477Gly) variant. This review gives an overview of the current knowledge of the clinical phenotypes, as well as experience with the efficacy and safety of the approved gene augmentation therapy voretigene neparvovec...

IMPORTANCE: Women with epilepsy (WWE) require treatment with antiseizure medications (ASMs) during pregnancy, which may be associated with an increased risk of major congenital malformations (MCMs) in their offspring. OBJECTIVE: To investigate the prevalence of MCMs after prenatal exposure to 8 commonly used ASM monotherapies and changes in MCM prevalence over time. DESIGN, SETTING, AND PARTICIPANTS: This was a prospective, observational, longitudinal cohort study conducted from June 1999 to October 2022...

INTRODUCTION: Heimler syndrome (HS) is a rare disorder that includes sensorineural hearing loss (SNHL), nail abnormalities, and enamel hypoplasia. Patients with this syndrome can also exhibit ocular manifestations. At present, only a few cases of HS have been reported, existing knowledge of this syndrome is limited, and many cases have been misdiagnosed or even missed. This is the first report of Heimler syndrome with blurred vision as the first complaint, which was diagnosed by genetic analysis in the ophthalmology department...

BACKGROUND: Congenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye's lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene can result in Ayme-Gripp syndrome and solitary cataract. Notably, MAF mutations have been infrequently reported in recent years. METHODS: In this investigation, we recruited a Chinese family with non-syndromic cataracts...

OBJECTIVE: The purposes of this pilot study were to compare short-term outcomes of the Perception-Action Approach (P-AA) and standard care based on 5 components of first-choice interventions listed in the congenital muscular torticollis (CMT) clinical practice guideline. Changes in postural alignment, symmetrical use of both sides of the body during movement and play, gross motor development, and behavior observed during therapy were considered. METHODS: Thirty-two participants were enrolled in a 2-group (P-AA and standard care) randomized, single-blind trial with pre-post test measures...

Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson...

Previous work has suggested a different developmental timeline and role of visual experience for the use of spatial and non-spatial features in haptic object recognition. To investigate this conjecture, we used a haptic ambiguous odd-one-out task in which one object needed to be selected as being different from two other objects. The odd-one-out could be selected based on four characteristics: size, shape (spatial), texture, and weight (non-spatial). We tested sighted children from 4 to 12 years of age; congenitally blind, late blind, and adult participants with low vision; and normally sighted adults...

Glaucoma is a prevalent neurodegenerative disease. It causes progressive visual loss and is one of the most common causes of blindness worldwide. It can be categorized into open-angle or closed-angle glaucoma. Primary congenital glaucoma (PCG) is a subdivision of open-angle glaucoma. Non-penetrating deep sclerectomy (NPDS) is a surgical method for managing open-angle and primary congenital glaucoma, which was first introduced in 1990. During NPDS, a sclera flap is raised but not completely removed, and the outer part of Schlemm's canal and trabecular meshwork, along with the juxtacanalicular tissue, are excised without completely penetrating the eye...

Emotion and perception are tightly intertwined, as affective experiences often arise from the appraisal of sensory information. Nonetheless, whether the brain encodes emotional instances using a sensory-specific code or in a more abstract manner is unclear. Here, we answer this question by measuring the association between emotion ratings collected during a unisensory or multisensory presentation of a full-length movie and brain activity recorded in typically developed, congenitally blind and congenitally deaf participants...

BACKGROUND: In recent years, self-expanding technology to treat pulmonary regurgitation in the native right ventricular outflow tract became Food and Drug Administration approved in the United States and is now routinely used. The current practice for selection of patients who are candidates for these devices includes screening for "anatomic fit," performed by each of the manufacturing companies. Our study aims to validate the use of virtual reality (VR) as a tool for local physician-led screening of patients...