Ocular Impairment Research Articles

Diagnosis and Care of Children With Cerebral/Cortical Visual Impairment: Clinical Report.

Cerebral/cortical visual impairment (CVI) is a leading cause of pediatric visual impairment in nations with developed economies and is increasing in those with developing economies. Because vision is the predominant sense used for learning, delay in diagnosis of CVI can negatively affect education, making early detection and management important. The American Academy of Pediatrics has published the policy statement "Visual System Assessment in Infants, Children, and Young Adults by Pediatricians" and an accompanying clinical report that are based on identifying potential causes of ocular visual impairment in children. Yet, routine vision screening may not accurately identify the brain-based visual impairment in children with CVI. Moreover, children with CVI often have medical complexity with other neurocognitive impairments and serious medical conditions that can make the diagnosis of CVI more difficult. Strategies are necessary for early identification of CVI to promote early diagnosis and referral for vision services that may allow a child with CVI to engage more fully in school, activities of daily living, vocational pursuits, and recreational activities. Knowledge of the characteristics of CVI as well as risk factors for CVI will assist the pediatrician in identifying children with CVI. This clinical report is complementary to previous vision screening policies, allowing both ocular and brain-based visual impairments in children to be identified and addressed. Pediatricians, other primary care physicians, pediatric ophthalmologists, neurologists, and other specialized pediatric eye care clinicians can identify children with CVI and coordinate effective evaluation, diagnosis, and referrals for vision services for these children.

Outcomes and prognostic factors in pediatric orbital trapdoor fracture: a multi-center study.

To evaluate clinical presentations, computed tomography (CT) findings, and various prognostic factors affecting the surgical outcomes of trapdoor fractures. This retrospective multi-center study reviewed medical records and orbital CT scans of patients under 21 years old, diagnosed with isolated trapdoor fractures. The study was conducted across multiple medical centers, including emergency and clinical departments in Isfahan, Shiraz, and Tehran-Iran. The characteristics and outcomes following surgical intervention were assessed. 45 patients with isolated trapdoor fractures were included in the study, with a mean age of 11.67 ± 4.69 years, predominantly male (84.4%). Vehicle accidents was the major cause of fractures (31.1%). 44 patients (97.8%) had orbital floor fracture, and one patient (2.2%) had medial wall involvement. Nausea/vomiting were reported in 41 patients (91.1%). Surgical intervention within 2 days, resulted in 85.0% of patients experiencing no postoperative diplopia. Delayed surgery beyond 2 days showed increased odds of diplopia, although not statistically significant. CT scan findings suggested a lower risk of diplopia in patients with soft tissue entrapment compared to muscle involvement (OR: 0.336, 95% CI: 0.077-1.462, p = 0.146). Shorter time to surgery (within 2 days) was significantly associated with normal postoperative eye movements (p = 0.002). Nausea/vomiting were more prevalent in patients with muscle entrapment (p < 0.05). Surgical intervention within 48h is crucial for improving ocular motility following trapdoor fractures. Extraocular symptoms, including nausea/vomiting, should raise suspicion for trapdoor fractures in cases of orbital trauma associated with ocular movement impairment. Not applicable.

Utility of the Vestibular/Ocular Motor Screening in Military Medicine: A Systematic Review.

The Vestibular/Ocular Motor Screening (VOMS) was created as a brief clinical screening tool for identifying vestibular and ocular motor symptoms and impairments post-concussion. It was found to have predictive validity in correctly identifying concussed athletes from healthy controls. In 2018, the Military Acute Concussion Evaluation 2 (MACE2) replaced the original Military Acute Concussion Evaluation (MACE); the most prominent change between the MACE and MACE2 was the addition of the VOMS. Despite its adoption into military medicine, it is not known if the addition of the VOMS to the MACE2 is acutely helpful, and if it provides additional information for diagnosis, prognosis, and/or management. The purposes of this systematic review were: (1) to determine the utility of the VOMS in correctly identifying concussed individuals, particularly as it pertains to military medicine; (2) to explore the extent to which the VOMS can inform concussion prognosis; and (3) to establish the value of the VOMS as a measure for monitoring the evolution of symptoms throughout a service member's course of care. A comprehensive search of PubMed was performed from January 1, 2014 through August 16, 2023. Articles were included if they researched concussion or a related health condition or healthy controls and administered the VOMS. Articles were excluded if they discussed health conditions other than concussion; did not administer the VOMS; or were written in languages other than English. The tools used to assess methodological quality and risk of bias varied according to study design. Articles were classified into three primary domains: diagnosis, prognosis, and/or rehabilitation/recovery over time. A total of 231 articles were retrieved and 3 were duplicates, leaving 228 articles for review. Of the 228 articles screened, 100 relevant full-text articles were assessed for eligibility. Fifty-nine articles met our inclusion and exclusion criteria while the other 41 articles were rejected. Thirty-two articles helped to inform diagnosis, 15 prognosis, and 16 rehabilitation/recovery over time. The VOMS had excellent internal consistency and moderate to good test-retest reliability; however, a false-positive rate of 21.9% was found. Most studies indicated that a positive VOMS was associated with a delayed recovery. Several studies indicated that VOMS scores improved with targeted, active interventions and/or a symptom-guided progressive return to activity. The greatest limitation was the paucity of published evidence in the military population. More research is needed on the use of the VOMS in service members.

Interconnections between diabetic corneal neuropathy and diabetic retinopathy: diagnostic and therapeutic implications.

Diabetic corneal neuropathy and diabetic retinopathy are ocular complications occurring in the context of diabetes mellitus. Diabetic corneal neuropathy refers to the progressive damage of corneal nerves. Diabetic retinopathy has traditionally been considered as damage to the retinal microvasculature. However, growing evidence suggests that diabetic retinopathy is a complex neurovascular disorder resulting from dysfunction of the neurovascular unit, which includes both the retinal vascular structures and neural tissues. Diabetic retinopathy is one of the leading causes of blindness and is frequently screened for as part of diabetic ocular screening. However, diabetic corneal neuropathy is commonly overlooked and underdiagnosed, leading to severe ocular surface impairment. Several studies have found that these two conditions tend to occur together, and they share similarities in their pathogenesis pathways, being triggered by a status of chronic hyperglycemia. This review aims to discuss the interconnection between diabetic corneal neuropathy and diabetic retinopathy, whether diabetic corneal neuropathy precedes diabetic retinopathy, as well as the relation between the stage of diabetic retinopathy and the severity of corneal neuropathy. We also endeavor to explore the relevance of a corneal screening in diabetic eyes and the possibility of using corneal nerve measurements to monitor the progression of diabetic retinopathy.

The C/EBPβ-SESN2 Axis Promotes M2b Macrophage Polarization Induced by T.cp-MIF to Suppress Inflammation in Thelazia Callipaeda Infection.

Infection by the conjunctival sucking nematode Thelazia callipaeda results in ocular inflammation and immune impairment. T.cp-MIF, a macrophage migration inhibitor factor of T. callipaeda, can induce macrophage polarization and is involved in the host innate immune response, but little is known about the regulatory mechanisms and the actual immune effect. Understanding the immunoregulatory mechanisms carries significant clinical relevance for the development of novel preventative and therapeutic strategies. The macrophages were induced by T.cp-MIF in vitro, and the polarization direction at different times and the expression of inflammatory factors were detected by flow cytometry analysis, qPCR and western blotting. The key transcription factors and target genes were screened through transcriptome data, and the functions of transcription factors were verified by inhibition experiments in vitro. T.cp-MIF and T. callipaeda adult worms can cause inflammation of the ocular conjunctiva and macrophage infiltration. T.cp-MIF activated macrophages presenting M2b polarization after 48h and played a role in inhibiting inflammation. Furthermore, based on the results of transcriptome data analysis and inhibition experiments, we demonstrate that this polarization is dependent on the involvement of the transcription factor C/EBPβ and its target gene SESN2. Our results demonstrated that the C/EBPβ-SESN2 axis plays an important regulatory role in T.cp-MIF-induced macrophage M2b polarization and it provides a new perspective for understanding the immune escape of ocular parasite infection.

Differentiating optic neuropathies using laser speckle flowgraphy: Evaluating blood flow patterns in the optic nerve head and peripapillary choroid.

To compare blood flow (BF) impairment patterns in different optic neuropathies using laser speckle flowgraphy (LSFG). This retrospective study enrolled 24 eyes of 24 patients with non-arteritic anterior ischemic optic neuropathy (NAAION), 59 eyes of 59 patients with optic neuritis (ON), 677 eyes of 677 patients with open-angle glaucoma (OAG), and 110 eyes of 110 controls. The patient backgrounds of all groups were compared. Ophthalmologic findings were evaluated, adjusting for age, sex, blood pressure, pulse rate, and underlying systemic diseases with 1:1 optimal propensity score matching. We used LSFG to obtain optic nerve head (ONH) vessel-area mean blur rate (MBR; ONH-MV), ONH tissue-area MBR (ONH-MT), and choroidal MBR. The NAAION and ON groups were compared with the control and OAG groups. Best-corrected visual acuity was worse in the NAAION, ON, and OAG groups than in controls (p < 0.001). Circumpapillary retinal nerve fibre layer thickness was higher in the NAAION and ON groups and lower in the OAG group than in controls (p < 0.001). Compared to controls, the NAAION and OAG groups had significantly lower ONH-MV, ONH-MT, and choroidal MBR (p < 0.05). Additionally, the NAAION group had lower ONH-MV and choroidal MBR than the OAG group (p = 0.003 and p < 0.001, respectively) but no difference in ONH-MT (p = 0.857). The ON group had significantly lower ONH-MV and choroidal MBR compared to the controls (p < 0.001 and p = 0.022, respectively) but no difference in ONH-MT (p = 0.773). Optic neuropathies showed different patterns of ocular BF impairment. Therefore, LSFG can be a useful tool for differentiating optic neuropathies.

Visual toxicity in zebrafish larvae following exposure to 2,2′,4,4′-tetrabromodiphenyl ether (BDE-47), triphenyl phosphate (TPhP), and isopropyl phenyl diphenyl phosphate (IPPP)

TPhP and IPPP, alternatives to PBDEs as flame retardants, have been studied for their developmental toxicity, but their visual toxicities are less understood. In this study, zebrafish larvae were exploited to evaluate the potential ocular impairments following exposure to BDE-47, TPhP, and IPPP. The results revealed a range of ocular abnormalities, including malformation, vascular issues within the eyes, and histopathological changes in the retina. Notably, the visually mediated behavioral changes were primarily observed in IPPP and TPhP, indicating that they caused more severe eye malformations and vision impairment than BDE-47. Molecular docking and MD simulations showed stronger binding affinity of TPhP and IPPP to RAR and RBP receptors. Elevated ROS and T3 levels induced by these compounds led to apoptosis in larvae eyes, and increased GABA levels induced by TPhP and IPPP hindered retinal repair. In summary, our results indicate TPhP and IPPP exhibit severer visual toxicity than BDE-47, affecting eye development and visually guided behaviors. The underlying mechanism involves disruptions in RA signaling, retinal neurotransmitters imbalance, thyroid hormones up-regulation, and apoptosis in larvae eyes. This work highlights novel insights into the need for cautious use of these flame retardants due to their potential biological hazards, thereby offering valuable guidance for their safer applications.

Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor

Classical homocystinuria is a rare disease caused by mutations in cystathionine β-synthase (CBS) gene (OMIM 613381). CBS catalyzes the first step of the transsulfuration pathway that converts homocysteine (Hcy) into cystathionine (Cysta) via a number of co-substrates and mechanisms. Formation of Cysta by condensation of Hcy and cysteine (Cys) produces a molar equivalent of hydrogen sulfide (H2S). H2S plays important roles in cognitive and vascular functions. Clinically, patients with CBS deficiency present with vascular, ocular, neurological and skeletal impairments. Biochemically, CBS deficiency manifests with elevated Hcy and reduced concentration of Cysta in plasma and urine. A number of pathogenic variants of human CBS have been characterized by their residual enzymatic activity, but very few studies have examined H2S production by pathogenic CBS variants, possibly due to technical hurdles in H2S detection and quantification. We describe a method for the real-time, continuous quantification of H2S formed by wild-type and pathogenic variants of human recombinant CBS, as well as by fibroblast extracts from healthy controls and patients diagnosed with CBS deficiency. The method takes advantage of the specificity and high affinity of hemoglobin I of the clam Lucina pectinata toward H2S and is based on UV–visible spectrophotometry. Comparison with the gold-standard, end-point H2S quantification method employing monobromobimane, as well as correlations with CBS enzymatic activity determined by LC-MS/MS showed agreement and correlation, and permitted the direct, time-resolved determination of H2S production rates by purified human recombinant CBS and by CBS present in fibroblast extracts. Rates of H2S production were highest for wild-type CBS, and lower for pathogenic variants. This method enables the examination of structural determinants of CBS that are important for H2S production and its possible relevance to the clinical outcome of patients.

Patterns of brain volume and metabolism predict clinical features in the progressive supranuclear palsy spectrum.

Progressive supranuclear palsy (PSP) is a neurodegenerative tauopathy that presents with highly heterogenous clinical syndromes. We perform cross-sectional data-driven discovery of independent patterns of brain atrophy and hypometabolism across the entire PSP spectrum. We then use these patterns to predict specific clinical features and to assess their relationship to phenotypic heterogeneity. We included 111 patients with PSP (60 with Richardson syndrome and 51 with cortical and subcortical variant subtypes). Ninety-one were used as the training set and 20 as a test set. The presence and severity of granular clinical variables such as postural instability, parkinsonism, apraxia and supranuclear gaze palsy were noted. Domains of akinesia, ocular motor impairment, postural instability and cognitive dysfunction as defined by the Movement Disorders Society criteria for PSP were also recorded. Non-negative matrix factorization was used on cross-sectional MRI and fluorodeoxyglucose-positron emission tomography (FDG-PET) scans. Independent models for each as well as a combined model for MRI and FDG-PET were developed and used to predict the granular clinical variables. Both MRI and FDG-PET were better at predicting presence of a symptom than severity, suggesting identification of disease state may be more robust than disease stage. FDG-PET predicted predominantly cortical abnormalities better than MRI such as ideomotor apraxia, apraxia of speech and frontal dysexecutive syndrome. MRI demonstrated prediction of cortical and more so sub-cortical abnormalities, such as parkinsonism. Distinct neuroanatomical foci were predictive in MRI- and FDG-PET-based models. For example, vertical gaze palsy was predicted by midbrain atrophy on MRI, but frontal eye field hypometabolism on FDG-PET. Findings also differed by scale or instrument used. For example, prediction of ocular motor abnormalities using the PSP Saccadic Impairment Scale was stronger than with the Movement Disorders Society Diagnostic criteria for PSP oculomotor impairment designation. Combination of MRI and FDG-PET demonstrated enhanced detection of parkinsonism and frontal syndrome presence and apraxia, cognitive impairment and bradykinesia severity. Both MRI and FDG-PET patterns were able to predict some measures in the test set; however, prediction of global cognition measured by Montreal Cognitive Assessment was the strongest. MRI predictions generalized more robustly to the test set. PSP leads to neurodegeneration in motor, cognitive and ocular motor networks at cortical and subcortical foci, leading to diverse yet overlapping clinical syndromes. To advance understanding of phenotypic heterogeneity in PSP, it is essential to consider data-driven approaches to clinical neuroimaging analyses.

Successful treatment of cortical visual impairment in children using anti-amblyopia treatment despite the absence of amblyopia: a case report

BackgroundCortical visual impairment (CVI) is a verifiable visual dysfunction that cannot be attributed to disorders of the anterior visual pathways or any potentially co-occurring ocular impairment. Given the limited knowledge on the most effective interventions for visual impairment resulting from CVI, this case report provides valuable insights into an example of successful implementation of anti-amblyopia therapy in a patient with CVI.Case presentationThis case report presents a 5-year-old girl with CVI secondary to hypoxic-ischemic injury, resulting in visual impairment, dyspraxia, and abnormal visual evoked potential testing. The girl did not suffer from amblyopia, there was no evidence of relevant refractive errors or strabismus, so visual pathway damage was the cause of her visual deficit. Nevertheless, the patient underwent anti-amblyopia therapy and showed significant improvement in visual acuity after 12 months of treatment. The improvement, resulting from visual stimulation, was due to a good functional recovery by a better usage of the damaged visual pathways. The therapy included prescribing corrective glasses and implementing secondary occlusion of the better eye for 4 months, which was protracted for another 4 months, leading to further improvements in visual acuity.ConclusionsThe case report shows that addressing even minor refractive errors and implementing anti-amblyopia therapy can significantly improve vision in children with CVI, even without co-existing amblyopia. It also highlights the importance of early intervention and multidisciplinary rehabilitation in children with CVI, focusing on motor and cognitive skills. Additionally, it emphasizes the need for further research to establish evidence-based practice standards for improving vision in children with CVI.

The role of physical medicine and rehabilitation in the management of a pediatric female with Möbius syndrome: a case report

This case report presents a comprehensive analysis of a 4-year-old female patient with Möbius syndrome and associated conditions while emphasizing the role of pediatric physical medicine and rehabilitation (PM&R) in managing her complex medical profile. The patient’s clinical presentation encompassed congenital facial palsy, ocular abduction impairments, developmental delay, syndactyly, clubfoot, and G-tube dependence. The diagnosis was based on characteristic clinical criteria of Möbius syndrome. A multifaceted PM&R approach was employed, involving tailored physical therapy interventions targeting head control, sensory integration, trunk rotation, and positioning techniques. Concurrently, occupational therapy strategies enhanced her functional abilities and empowered caregivers with home-based support techniques. Long-term management considerations highlighted the potential of home-based and school-based therapies, emphasizing multidisciplinary collaboration for sustained progress. The case report underscores the effectiveness of PM&R in addressing the intricate challenges of Möbius syndrome and related conditions, offering insights for future clinical practice and research.

Comparative Analysis of Early Diabetic Retinopathy Detection: Enhanced Minimal CNN vs VGG Architecture on CLAHE- Preprocessed Retinal Images

Ocular impairment is one of the prominent problems affecting middle-aged individuals due to uncontrolled blood sugar levels, commonly known as Diabetic Retinopathy (DR). The small abnormalities in the retinal capillaries, called microaneurysms and intra retinal bleeding, are the initial symptoms of Diabetic Retinopathy. Clinically recognizing diabetic retinal disease is a time-consuming and difficult process due to limitations in resources and experienced doctors. Early detection is crucial in avoiding the progression of Diabetic Retinopathy, highlighting the importance of an automated DR detection method to identify symptoms in its early stages. In this paper, researchers developed an unfamiliar framework known as Enhanced Minimal Convolutional Neural Network (EMCNN) to classify Mild-DR and No-DR ophthalmic photos using a binary classification process. The proposed new model EMCNN is compared with the migration learning method using the existing framework VGG16 and VGG19 in terms of precision and effectiveness. Before being sent across the network, the fundus pictures underwent preprocessing using the Contrast Limited Adaptive Histogram Equalization (CLAHE) tactic. EMCNN is an experimental model that enjoys a minimum number of layers and batch normalization to minimize the training effort. The EMCNN model achieved 94.89% accuracy using 3100 image dataset which is a remarkable improvement when compared with VGG architectures since the VGG architecture is trained with millions of images.

Paradoxical clinical presentation in ocular trauma following road traffic accident – A case report

Ocular trauma following road traffic accident is one of the main causes of preventable monocular blindness in young adult men and a significant contributor to severe vision impairment in people of all ages. Though helmet protects the riders from severe brain injury and also protects the face, still ocular injuries are possible even wearing a helmet. We are presenting here a case of ocular trauma following road traffic accident in a 34-year-old male wearing helmet, in whom there were anterior segment injuries in one eye without any defect in vision, whereas without any external ocular injury, the other eye had sever retinal edema, hemorrhage, and vitreous hemorrhage, grossly affecting the vison in that eye. Any patient even with mid-facial injuries should be evaluated for suspected ocular impairment and rule out the potential need for early intervention to prevent blindness.

Retinal Microvasculature in Systemic Sclerosis Patients and the Correlation between Nailfold Capillaroscopic Findings and Optical Coherence Angiography Results.

Background: The comparison of retinal perfusion in the eyes of patients with systemic sclerosis (SSc) and in healthy controls using optical coherence tomography angiography (OCTA). The correlation between nailfold capillaroscopy results and OCTA findings among SSc. Methods: The study enrolled 31 patients with systemic sclerosis and 41 healthy controls. OCTA was performed in both groups to assess the retinal vasculature in the superficial (SCP) and deep (DCP) capillary plexuses and the foveal avascular zone (FAZ) area. Nailfold capillaroscopy (NC) was performed in SSc patients and compared to the FAZ area and the superficial and the deep vessel density. Results: In the SSc group, the parafoveal vessel density in DCP was significantly higher in relation to the mean value (p < 0.0001) and in each quadrant of the macula (p < 0.0001) compared to healthy subjects (p < 0.0001). The patients with early scleroderma patterns in capillaroscopy had a larger superficial and deep FAZ (p = 0.0104, p = 0.0076, respectively) than those with active and late patterns. There was a statistically significant difference in the FAZ when comparing early to active (p < 0.0001) and early to late scleroderma patterns (p < 0.0001). A statistically significant difference was found in the type of interstitial lung disease and the deep FAZ area (p = 0.0484). SSc patients with nonspecific interstitial pneumonia (NSIP) had a larger FAZ than those with usual interstitial pneumonia (UIP) (p = 0.0484). Moreover, NSIP cases had a higher parafoveal mean superficial vessel density than those with UIP (p = 0.0471). Conclusions: Our investigation showed that the peripheral microvascular system correlates with ocular microcirculatory impairment. The results indicate the important role of OCTA in the diagnosis, monitoring, and prognosis of microvascular changes in SSc.

Comparative Analysis of Early Diabetic Retinopathy Detection: Enhanced Minimal CNN Vs VGG Architecture on CLAHE- Preprocessed Retinal Images

Ocular impairment is one of the prominent problems affecting middle-aged individuals due to uncontrolled blood sugar levels, commonly known as Diabetic Retinopathy (DR). The small abnormalities in the retinal capillaries, called microaneurysms and intra retinal bleeding, are the initial symptoms of Diabetic Retinopathy. Clinically recognizing diabetic retinal disease is a time-consuming and difficult process due to limitations in resources and experienced doctors. Early detection is crucial in avoiding the progression of Diabetic Retinopathy, highlighting the importance of an automated DR detection method to identify symptoms in its early stages. In this paper, researchers developed an unfamiliar framework known as Enhanced Minimal Convolutional Neural Network (EMCNN) to classify Mild-DR and No-DR ophthalmic photos using a binary classification process. The proposed new model EMCNN is compared with the migration learning method using the existing framework VGG16 and VGG19 in terms of precision and effectiveness. Before being sent across the network, the fundus pictures underwent preprocessing using the Contrast Limited Adaptive Histogram Equalization (CLAHE) tactic. EMCNN is an experimental model that enjoys a minimum number of layers and batch normalization to minimize the training effort. The EMCNN model achieved 94.89% accuracy using 3100 image dataset which is a remarkable improvement when compared with VGG architectures since the VGG architecture is trained with millions of images

Management of a patient with Joubert syndrome using dynamic neuromuscular stabilisation technique to improve postural control: a case report

Background/Aims Joubert syndrome is a rare genetic disorder of midbrain–hindbrain malformation characterised by cerebellar ataxia, hypotonia, intellectual disability, delayed milestones, ocular and respiratory impairment. This case study presents a comprehensive approach for the intervention of a 7-year-old patient with Joubert syndrome, focusing on core stability using dynamic neuromuscular stabilisation techniques in conjunction with conventional physiotherapy. Methods To address core stability, an intensive regimen of dynamic neuromuscular stabilisation exercise sessions was implemented, conducted five times a week over a span of 7 months. Each session of dynamic neuromuscular stabilisation lasted for 30 minutes with an additional 30 minutes for conventional physiotherapy. Outcome measures, including the Functional Independence Measure for Children and Gross Motor Function Measure, were used to evaluate the impact of the intervention. Results There were significant increases in the Gross Motor Function Measure and Functional Independence Measure for Children, with initial scores of 30 and 31, advancing to 134 and 53 respectively. Conclusions The findings suggest that dynamic neuromuscular stabilisation, with a focus on joint centration and spinal stabilisation to maintain optimal intra-abdominal pressure, along with traditional physiotherapy, can help patients with Joubert syndrome improve their postural balance. Implications for practice This case study raises awareness of diagnosing and addressing rare diseases such as Joubert syndrome. Physiotherapy professionals can use this case study to create therapeutic interventions for individuals with Joubert syndrome.

The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum.

The ultra-rare autosomal recessive genetic disorder, You-Hoover-Fong Syndrome (YHFS), is caused by defects in the TELO2 gene and is characterized by intellectual disability, developmental delay, and ocular impairments. This study aims to contribute to a better understanding of YHFS by reviewing previous cases and introducing a novel variant in a new case. Whole exome sequencing (WES) was conducted on the proband to identify genetic variants, and Sanger sequencing was used to confirm variants within the family. This article presents a comprehensive collection of reported cases of YHFS, incorporating both molecular and clinical data, through an extensive literature search and analysis of English-language studies published until June 2023. Using WES, a novel homozygous missense variant, c.1799A > G (p. Tyr600Cys), was identified in the TELO2 gene in a 4-year-old Iranian male patient. Novel clinical features, including choanal atresia and clubfoot, were also identified. A comprehensive literature review identified 27 patients with YHFS, with 20 variants in the TELO2 gene. Missense pathogenic variants were the most common type of pathogenic variant, and the most common features were microcephaly and intellectual impairment. This study presents the first case of pathogenic variants in TELO2 genein Iran, expands the genotypic and phenotypic spectrum of YHFS and contributes to the growing body of literature pertaining to YHFS. Furthermore, our findings highlight the importance of genetic testing for non-consanguineous carrier screening, as compound heterozygosity may be a significant factor in the development of YHFS. Further research is needed to clarify the molecular mechanisms underlying YHFS pathogenesis.

Clinical Characteristics of Pre-pubescent Patients with Systemic Lupus Erythematosus (SLE)

Background: Systemic Lupus Erythematosus (SLE) is a chronic autoimmune condition that affects multiple organ systems, including cutaneous, renal, neurological, and hematological disorders. Pediatric SLE (pSLE) has a prevalence of 3.3-8.8 cases per 100,000 children. Children with SLE (cSLE) have higher disease severity than adults, but the evidence on cSLE is mostly from pubertal patients, and the reasons for the variation on presentation is unclear. There is limited data on prepubertal SLE, as SLE rarely affects pre-pubescent patients. This study aims to outline the clinical characteristics, disease activity and organ damage of pre-pubescent patients with SLE. Methods: A retrospective study was performed on prospectively collected multi-center data from 2005-2015. Patient data, including race, ethnicity, sex, age of presentation and diagnosis, Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score, and Systemic Lupus International Collaborating Clinics (SLICC) damage index was collected using REDcap. Results: This study included 43 pre-pubescent SLE patients, with an average age at diagnosis of 9.7 years and 10.7 years at the study's start. Organ systems with the highest prevalence rates were musculoskeletal (Arthritis – 69.77%) and cutaneous (Malar rash – 58.14%). The organ systems with the highest involvement frequency, according to the SLICC damage index, were skin (alopecia - 9.3%), ocular (retinal changes/optic atrophy/cataracts - 9.3%), gastrointestinal (pancreatic insufficiency – 4.65%), neuropsychiatric (cognitive impairment – 4.65%), and renal (reduced glomerular filtration rate – 4.65%). Throughout the study, all patients had SLEDAI scores ranging from no activity to high activity, with 55.8% having mild activity, 27.9% having moderate activity, and 14% having high activity. Conclusion: Similar to SLE studies on pediatric populations, our study found that cutaneous, gastrointestinal, and renal manifestations were common. However, we found a high prevalence of damage in prepubertal patients, in particular ocular and cognitive impairment. This highlights the need to prioritize ocular exams and cognitive assessments in patients with prepubertal SLE.

TFOS lifestyle report: Effects of nutrition on the ocular surface and adnexa

This presentation summarizes the findings of the Nutrition Subcommittee of the recent Workshop of the Tear Film &amp; Ocular Surface Society, entitled “A Lifestyle Epidemic: Ocular Surface Disease” (www.tearfilm.org). It is now recognized that unhealthy nutrition habits, which include either under and over eating, can impair our daily wellbeing and contribute to the risk of developing several diseases. Nutrients are substances required by the body to perform its basic functions, and must be obtained from our diet. They are broadly classified into three groups: macronutrients (carbohydrates, lipids, and proteins), micronutrients (vitamins and minerals), and water. In the report each element of nutrition and its known impact on the ocular surface is discussed on the basis of scientific evidence. Vitamin deficiencies, such as vitamin A and C, have been consistently associated with ocular surface impairment, but links with other systemic nutritional deficiencies are far less established, and just hypothesized at present. The influence of factors such as age, sex, ethnicity, socioeconomical issues on nutrition, and the modulation of the gut microbiome to improve ocular surface disease are also explored. Certain systemic conditions may affect the uptake, processing and distribution of nutrients by the body, thus leading to deficiencies of micro‐ and macro‐nutrients that are important in maintaining ocular surface health.Among supplements, the omega‐3 and omega‐6 polyunsaturated fatty acids are the most extensively studied dietary supplements in ocular surface disease, with numerous randomized controlled trials, systematic reviews and meta‐analyses, mostly in patients with dry eye disease, and showing low to moderate certainty evidence for a reduction in either symptoms and signs.An overarching issue identified in the report is the relative paucity of high‐quality evidence in explaining the role of nutrition in ocular surface health and disease. Eye doctors are advised to consider the evidence prior to providing nutritional recommendations to patients with respect to treatment for an ocular surface disease.

Neurological and Visual Outcomes in Infants and Toddlers Following Therapeutic Hypothermia for Neonatal Hypoxic-Ischemic Encephalopathy

BackgroundThe majority of studies have investigated neurodevelopmental outcomes, whereas visual impairment is less explored in children with a history of neonatal (hypoxic-ischemic) encephalopathy. Our aim was to perform a detailed neurological and visual assessment and also to investigate the presence of cerebral visual impairment in infants and toddlers with neonatal encephalopathy. MethodsThirty participants with a history of neonatal encephalopathy, who had been hospitalized for therapeutic hypothermia, underwent a detailed neurological examination at age five to 36 months. Age-matched, 30 healthy children were also enrolled as a control group. All children in the study and control groups received neurological and a comprehensive ophthalmologic examination, including visual field and visual acuity. Presence of cerebral visual impairment was also evaluated clinically. ResultsRates of cerebral palsy, severe motor impairment, cognitive impairment, epilepsy, and cerebral visual impairment were found to be 20%, 10%, 15.3%, 10%, and 20%, respectively. When compared with healthy controls, oculomotor functions, pupillary light response, refractive parameters, anterior/posterior segment examinations, ocular visual impairment rates, and last, visual acuities were found similar. However, we found a statistically significant increase in visual field defects in our study group. ConclusionsIt could be better to perform a comprehensive ophthalmologic examination including visual field, visual acuity, and oculomotor functions by a pediatric ophthalmologist to accurately diagnose neurovisual deficits in infants following therapeutic hypothermia. Early identification and rehabilitation of the visual deficits might improve the neurodevelopment in these children.