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A deafness-blindness syndrome results from ATF6-based disruption of the unfolded protein response.

Sensorineural hearing loss (SNHL) is the most prevalent form of permanent hearing impairment, arising from factors such as aging, exposure to loud noise, disease, ototoxic medications, and genetic mutations. Despite extensive research, effective treatments or cures for SNHL remain elusive. In this issue of the JCI, Lee et al. reveal a link between mutations in ATF6 and SNHL in patients with achromatopsia. The study also shows that Atf6-deficient (Atf6-/-) mice exhibit disorganized stereocilia and age-related loss of outer hair cells. Additionally, the researchers show that Atf6 is critical for

Case report: Two cases of multiple evanescent white dot syndrome with transient night blindness.

INTRODUCTION: This study aimed to report two cases of multiple evanescent white dot syndrome (MEWDS) with transient night blindness. CASE PRESENTATION: Case 1: A 24-year-old man presented with acute visual loss and night blindness in his right eye. Examination revealed an enlarged blind spot and multiple white dots extending from the posterior pole to the peripheral retina in the right eye. Optical coherence tomography (OCT) revealed multiple disruptions of the ellipsoid zone (EZ). Full-field electroretinography (ffERG) demonstrated a more pronounced reduction in rod amplitude compared with c…

Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.

BACKGROUND: Congenital stationary night blindness (CSNB) is a group of genetically and clinically heterogeneous non-progressive retinal disorders and can be classified based on fundus abnormalities as found in Oguchi disease or fundus albipunctatus (FA) or based on the absence of severe fundus abnormalities but altered electroretinography (ERG) findings. Here, we report the clinical and genetic findings of 46 CSNB families, with 18 families showing fundus abnormalities and 28 families without fundus abnormalities but having an altered ERG, showing complete CSNB (cCSNB) and Riggs type CSNB. ME…

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.

PURPOSE: Incomplete congenital stationary night blindness (icCSNB) is a subtype of inherited, non-progressive retinal diseases. Most cases of icCSNB result from mutations in the X-linked gene CACNA1F. We describe the clinical findings of two male siblings diagnosed with icCSNB, both carrying a novel variant c.4008 + 5G > T in CACNA1F inherited from their mother. METHODS: We carried out a comprehensive ophthalmic assessment, including fundus imaging, optical coherence tomography (OCT) scanning and electroretinography. We performed genetic testing with next generation sequencing, in-silico and …

Blindness and visual impairment: quality of life and accessibility in the city of Turin.

PURPOSE: Despite the increase in socio-health conditions and, in general, the focus on health worldwide, many diseases still adversely affec … of Turin. The inclusion criteria were any degree of visual impairment (from mild defect to complete blindness), according to Law n. 138/2001 classification. The exclusion criteria were mental disability and residence in care homes. Finally, statistical analysis was performed. Pearson's Chi-Square test was used to evaluate the strength of the association bet …

Blindness is decreasing among children born preterm during the last four decades in Denmark.

PURPOSE: Children born preterm are believed to be at increased risk of visual impairment (VI). The increased survival rate of extremely pret … ded. The prevalence of VI decreased from 26/1000 preterm children in the 1980s to 15/1000 in 2000s. Blindness due to preterm birth is almost eliminated affecting 1/1000 today. Sequelae to retinopathy of prematurity (ROP) was the most common cause of VI (51% of cases) in the 1980s but decreased to 34% in 2010s, whereas non-ocular causes of VI increased from …

Prevalence and Causes of Blindness and Visual Impairment Among Nigerian Children: A Systematic Review.

BACKGROUND: Low/middle-income countries have the highest burden of blindeness and visual impairment, which directly affects the children and indirectly affects their community. Furthermore, the number of blind years suffered by children with low vision or blindness creates a self-perpetuating ripple effect on their development, health and the socio-economic development of their communities. This systematic review aims to interrogate the existing evidence on the prevalence and causes of blindness and visual impairment in Nigerian children to provide evidence to drive health policy. METHODS: Th…

Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness.

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. Bioinformatics analysis was…

Trauma to the Eye: Diffusion Restriction on MRI as a Surrogate Marker for Blindness.

Traumatic optic nerve injury may lead to almost instantaneous blindness. We describe a case of sight loss after a perforating injury to the eye. The case is unusual in that the patient remained conscious and the trauma to the eye was isolated. A full ophthalmological examination was therefore possible within hours as well as early magnetic resonance imaging of the facial skull. High-quality T1-weighted, T2-weighted, and diffusion-weighted imaging could be acquired. The latter included apparent diffusion coefficient maps. There was a loss of the subarachnoid space of the optic nerve, fluid in t…

Identifying Risk Factors for Blindness From Glaucoma at First Presentation to a Tertiary Clinic.

PURPOSE: Glaucoma is the leading cause of irreversible blindness, a crippling disability resulting in higher risks of chronic health conditions. To better understand disparities in blindness risk, we identified risk factors of blindness on first presentation to a glaucoma clinic using a large clinical database. DESIGN: Retrospective cross-sectional study. METHODS: We used electronic health records of glaucoma patients from the Duke Ophthalmic Registry. International Classification of Diseases codes were used to identify glaucoma and exclude concurrent diseases. Blindness classification was b…

Active Vision in Sight Recovery Individuals with a History of Long-Lasting Congenital Blindness.

What we see is intimately linked to how we actively and systematically explore the world through eye movements. However, it is unknown to what degree visual experience during early development is necessary for such systematic visual exploration to emerge. The present study investigated visual exploration behavior in 10 human participants whose sight had been restored only in childhood or adulthood, after a period of congenital blindness because of dense bilateral congenital cataracts. Participants freely explored real-world images while their eye movements were recorded. Despite severe residua…

Blindness Following Carotid Artery Stenting Due to Ocular Hyperperfusion - Report and Review of Literature.

Cerebral hyperperfusion syndrome is a well-recognised phenomenon following carotid revascularisation. It is defined as cerebral blood flow increase of more than 100% of the baseline. A similar phenomenon can occur in the eye and maybe termed as ocular hyperperfusion syndrome. We present a 65-year-old male who developed an ipsilateral red eye with visual loss following carotid artery stenting. There was a past history of recurrent right middle cereberal artery (MCA) territory embolic infarcts and recurrent trasient episodes of vision loss in the right eye. Flow reversal was noted in the ophthal

Orbital Apex Syndrome Causing Blindness Secondary to a Vertical Root Fracture of a Tooth.

The authors report a case of a 35-year-old man who presented with left maxillary toothache associated with left sided facial pain and a rapidly progressive loss of vision in the left eye. Clinical and radiological assessments revealed it to be an odontogenic orbital apex syndrome secondary to a vertical root fracture of a tooth. The infection was treated and controlled, postoperative follow-up showed no recurrent inflammation and the patient recovered well. However, the vision was lost permanently. Odontogenic orbital apex syndrome is a rare, aggressive disease. Once the infection spreads, it

Bilateral Keratomalacia Leading to Blindness Secondary to Diet-Induced Vitamin A Deficiency in Infants.

Vitamin A is a fat-soluble vitamin that plays an important role in the development of the immune system, and a deficiency can cause blindness associated with xerophthalmia and premature mortality. Blindness from vitamin A deficiency is avoidable if supplements such as breast milk and other food fortification are provided to neonates at the time of weaning. The authors describe two infants who presented with keratomalacia and subsequent blindness. [J Pediatr Ophthalmol Strabismus. 2020;57:e12-e14.].

Central network changes in patients with advanced monocular blindness: A voxel-based morphometric study.

OBJECTIVE: To study the changes in gray matter volume (GMV) in patients with advanced monocular blindness (MB) using voxel-based morphometry (VBM). METHODS: Thirty-one patients with advanced MB (25 males and six females) and 31 normal controls (25 males and six females) were enrolled. The t test was applied to determine the differences in GMV, white matter volume (WMV), and volume of cerebrospinal fluid in different regions of the brain. The local characteristics of spontaneous concentrations of brain tissue were evaluated by the VBM method. The effects of blindness duration on differences in…

How to improve Iranians' vision health: on the national policy of preventing Iranians' blindness.

AIM: To review vision health situation of Iranian community, analyze its determinants, and discuss the adopted improvement strategies by the … field of vision health in Iran. Through these achievements, it seemed that the pattern of causes of blindness and low vision was similar to that of the developed countries. However, the review of Iranians' vision health indicators showed that a considerable percent of the blindness and low vision was avoidable through a national program demanding 3 types of …

Нарушение зрения и слепота взрослых - обзор распространенности и причин в Саудовской Аравии.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: Крупное социально-экономическое развитие в Саудовской Аравии повлияло на структуру и причины нарушения зрения за последние 40 лет. Кроме того, актуализированное резюме имеющихся данных имеет жизненно важное значение для планирования, мониторинга и оценки национальной программы профилактики слепоты. АИМ: Это исследование, проведенное с целью дать краткий обзор распространенности, причин и изменений в структуре слепоты и нарушения зрения среди взрослых саудовцев за последние 40 лет с кратким обсуждением соответствующих социально-экономических и экологических факторов. МЕТО

Совпадение в аннотации оригинала
BACKGROUND: A major socio-economic development in Saudi Arabia affected the pattern and causes of visual impairment for the past 40 years. Moreover, an up-to-date summary of available data is vital for planning, monitoring, and evaluating national blindness prevention program. AIM: This study conducted to provide a summary overview of prevalence, causes, an…