Congenitally blind

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...

OBJECTIVE: To describe the inheritance pattern and clinical variability of primary congenital glaucoma (PCG) in a family with two affected siblings. MATERIALS AND METHODS: Two sisters diagnosed at birth with bilateral PCG, whose father had bilateral PCG and mother had bilateral microphthalmus, were subjected to a familial genetic study and ophthalmologic follow-up including intraocular pressure (IOP) measurement, and collection of biometric and cup-to-disc ratio data...

BACKGROUND: Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSNB and investigate myopic progression under genetic cause. RESULTS: Sixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes were NYX, CACNA1F, and TRPM1. Myopia (96...

OBJECTIVES: The objectives of this study were to (i) evaluate the prevalence of pre-iridal monocellular and fibrovascular membranes in canine globes affected with congenital glaucoma associated with anterior segment dysgenesis (ASD), primary glaucoma associated with goniodysgenesis (GD), and secondary glaucoma, and (ii) examine the associations between monocellular and fibrovascular membranes by breed, gender, age and histopathologic ocular changes on light microscopic examination. METHODS: Records of dogs who had eyes enucleated due to blindness and uncontrolled glaucoma were reviewed...

Congenital and infantile (CI) cataract is one of the most important and preventable cause of blindness in children, but the incidence has not been studied in Korea. We collected data from the national claims database of the National Health Insurance Service of Korea from 2002 through 2019. We identified children who underwent cataract surgery within the age of 5 years, and cumulative incidence rates were calculated for each of the three age criteria. 989 patients out of 4,221,459 births underwent surgery with CI cataract during the period...

BACKGROUND: To explore the genetic defects of a Chinese family with complete Schubert-Bornschein type congenital stationary night blindness (CSNB). METHODS: A Chinese family with complete Schubert-Bornschein type CSNB was enrolled in this study. The detailed ocular presentations of the patient were recorded. Targeted gene sequencing including 156 genes related to retinal diseases was used to detect the gene mutation. Sanger sequencing was performed to validate the potential pathogenic variants, and segregation analysis was performed on all available family members...

Current accounts of behavioral and neurocognitive correlates of plasticity in blindness are just beginning to incorporate the role of speech and verbal production. We assessed Vygotsky/Luria's speech mediation hypothesis, according to which speech activity can become a mediating tool for perception of complex stimuli, specifically, for encoding tactual/haptic spatial patterns which convey pictorial information (haptic pictures). We compared verbalization in congenitally totally blind (CTB) and age-matched sighted but visually impaired (VI) children during a haptic picture naming task which included two repeated, test-retest, identifications...

Spatial cognition and mobility are typically impaired in congenitally blind individuals, as vision usually calibrates space perception by providing the most accurate distal spatial cues. We have previously shown that sight restoration from congenital bilateral cataracts guides the development of more accurate space perception, even when cataract removal occurs years after birth. However, late cataract-treated individuals do not usually reach the performance levels of the typically sighted population. Here, we developed a brief multisensory training that associated audiovisual feedback with body movements...

The Crumbs homolog 1 (CRB1) gene is associated with retinal degeneration, most commonly Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP). Here, we demonstrate that murine retinas bearing the Rd8 mutation of Crb1 are characterized by the presence of intralesional bacteria. While normal CRB1 expression was enriched in the apical junctional complexes of retinal pigment epithelium and colonic enterocytes, Crb1 mutations dampened its expression at both sites. Consequent impairment of the outer blood retinal barrier and colonic intestinal epithelial barrier in Rd8 mice led to the translocation of intestinal bacteria from the lower gastrointestinal (GI) tract to the retina, resulting in secondary retinal degeneration...

BACKGROUND: Congenital heart conditions are among the most common non-communicable diseases in children and young people (CYP), affecting 13.9 million CYP globally. While survival rates are increasing, support for young people adjusting to life with a heart condition is lacking. Furthermore, one in three CYP with heart conditions also experiences anxiety, depression or adjustment disorder, for which little support is offered. While adults are offered cardiac rehabilitation (CR) to support their mental and physical health, this is not offered for CYP...

How rigidly does innate architecture constrain function of developing cortex? What is the contribution of early experience? We review insights into these questions from visual cortex function in people born blind. In blindness, occipital cortices are active during auditory and tactile tasks. What 'cross-modal' plasticity tells us about cortical flexibility is debated. On the one hand, visual networks of blind people respond to higher cognitive information, such as sentence grammar, suggesting drastic repurposing...

OBJECTIVE: Ultrasonographic examination is the first-tier test to detect abnormal development of central nervous system (CNS). In optimal conditions, neurosonography can detect all important hallmarks of CNS development. It is, however, not known how the performance of this modality is in a routine setting. We aimed to evaluate the feasibility of neurosonography in a time-limited routine setting. STUDY DESIGN: We have performed a prospective study in which we have included a group of pregnant women carrying a fetus with an isolated congenital heart defect (CHD), and a control group of fetuses without structural anomalies...

PURPOSE: Brain stem tumors in children < 3 months at diagnosis are extremely rare. Our aim is to study a retrospective cohort to improve the understanding of the disease course and guide patient management. METHODS: This is a multicenter retrospective analysis across the European Society for Pediatric Oncology SIOP-E HGG/DIPG Working Group linked centers, including patients with a brainstem tumor diagnosed between 2009 and 2020 and aged < 3 months at diagnosis...

Congenital cataract is a major cause of childhood blindness worldwide, with crystallin mutations accounting for over 40 % of gene-mutation-related cases. Our research focused on a novel R114C mutation in a Chinese family, resulting in bilateral coronary cataract with blue punctate opacity. Spectroscopic experiments revealed that βA3-R114C significantly altered the senior structure, exhibiting aggregation, and reduced solubility at physiological temperature. The mutant also displayed decreased resistance and stability under environmental stresses such as UV irradiation, oxidative stress, and heat...

BACKGROUND: Self-inflating hydrogel expanders have been used to treat anophthalmia and blind microphthalmia. This study aimed to investigate the long-term outcomes of treatment with self-inflating hydrogel expanders for congenital anophthalmia and blind microphthalmia. METHODS: In this retrospective study, the medical records of 161 patients with anophthalmia and blind microphthalmia who underwent hydrogel expansion were reviewed. We measured the palpebral fissure height (PFH), palpebral fissure length (PFL), and distance between the inner canthal and mid-nasal line (ICMN) before and after surgery...