Visual Abnormalities Research Articles

Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome

Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in HPS1, HPS6, and BLOC1S6 genes (types HPS1, HPS6, and HPS9) were found. To determine the optimal therapy and recommendations for further follow up, it is necessary to consider the entire clinical spectrum and genetic polymorphism of the disease. An interdisciplinary approach, combined with the use of non-routine diagnostic techniques such as RNA analysis, is essential for achieving accurate diagnoses in certain complex cases.

Prevalence of Glaucoma Among US Adults in 2022

Glaucoma is the leading cause of irreversible blindness worldwide and, in the US, disproportionately affects people from racial and ethnic minority groups. Glaucoma prevalence has not been estimated for the US in more than a decade, and state- and county-level estimates are not available. To estimate glaucoma and vision-affecting glaucoma prevalence by demographic factors and US state and county for the Centers for Disease Control and Prevention's Vision and Eye Health Surveillance System (VEHSS). This meta-analysis used data from the National Health and Nutrition Examination Survey (2005-2008), Medicare fee-for-service claims (2019), IBM MarketScan commercial insurance claims (2016), population-based studies of eye disease (1985-2003), and 2022 population estimates from the US Census Bureau. PubMed was searched for population-based studies of glaucoma prevalence published between 1991 and 2016. Bayesian meta-regression methods were used to estimate the prevalence of glaucoma and vision-affecting glaucoma stratified by age, undifferentiated sex/gender (a measure that captures an unclear mix of aspects of sex and or gender), race and ethnicity, and US county and state. Prevalence of any type of glaucoma (open or closed angle) among people 18 years or older and vision-affecting glaucoma, defined as glaucoma and a visual field abnormality. For 2022, an estimated 4.22 million people (95% uncertainty interval [UI], 3.46 million to 5.23 million) in the US were living with glaucoma, with a prevalence of 1.62% (UI, 1.33%-2.00%) among people 18 years or older and 2.56% (UI, 2.10%-3.16%) among people 40 years or older. An estimated 1.49 million people (UI, 1.17 million to 1.90 million) were living with vision-affecting glaucoma, with a prevalence of 0.57% (UI, 0.45%-0.73%) among people 18 years or older and 0.91% (UI, 0.71%-1.16%) among people 40 years or older. Prevalence of glaucoma among people 18 years or older ranged from 1.11% (UI, 0.89%-1.40%) in Utah to 1.95% (UI, 1.57%-2.39%) in Mississippi. Black adults had a prevalence of 3.15% (UI, 2.32%-4.09%) compared with 1.42% (UI, 1.10%-1.85%) among White adults; adults in the Hispanic and all other racial and ethnic categories combined had a prevalence of 1.56% (UI, 1.13%-2.06%). This meta-analysis found that an estimated 2.56% of people 40 years or older have glaucoma, slightly more than estimated by previous studies. Black individuals are disproportionately affected. Prevalence estimates at the state and county level can help guide public health planning.

Identification and quantitation of monoclonal proteins in polyclonal hypergammaglobulinemia background: a retrospective study

Abstract Background Hypergammaglobulinemia poses a challenge for identifying and quantitating monoclonal proteins (M-protein). The Increased polyclonal immunoglobulin background can lead to imprecise estimation of the M-protein when quantitated by serum protein electrophoresis (SPEP). This is especially true using the perpendicular drop method of peak integration. Hypergammaglobulinemia also makes it difficult to detect small M-proteins on immunofixation electrophoresis. Overestimation of M-protein concentration can lead to unnecessary follow-ups while missing small M-proteins can mask the underlying diagnosis for patients. In this study, we retrospectively evaluated the prevalence and concentration of M-protein within polyclonal hypergamma backgrounds using immunocapture matrix-assisted laser desorption ionization time-of-flight mass-spectrometry (MASS-FIX). Methods We retrospectively analyzed 47061 unique patients tested for SPEP and MASS-FIX in 2022 at Mayo Clinic. If a patient underwent multiple tests during this period, only the first result was included in the analysis. Polyclonal hypergammaglobulinemia was defined as a gamma fraction >1.7g/dL by SPEP. MASS-FIX was used to identify and isotype M-proteins. MASS-FIX was then combined with total immunoglobin quantitation (IgG, IgA or IgM) using nephelometry to quantify concentration of the M- protein using mathematical modeling (method currently under validation). Results Of the 47,061 unique patients, 24,796 were normal by SPEP (53%). M-spikes were present in 5,808 cases (12%). Hypogammaglobulinemia (gamma fraction < 0.5g/dL) in 2897 cases (6%). Small non-quantifiable M-proteins by SPEP were present in 8363 cases (18%). [JC2] There were 4222 hypergamma cases in the cohort (9%), without a quantitative M-spike on SPEP. Of these, 16.1% (680/4222) patients had an M-protein by MASS-FIX. When polyclonal hypergamma was the sole SPEP abnormality, 5.5% were MASS-FIX positive. However, when a small abnormality pattern was observed within the polyclonal hypergamma background on SPEP, 50% of patients were MASS-FIX positive. The most common isotype was IgG (27.2%), followed by IgM (10.2%), IgA (8.1%), and biclonal (3.7%), which is similar to overall isotype distribution in other backgrounds. Using quantitative MASS-FIX, we identified that 95% MASS-FIX positive small monoclonal proteins in polyclonal hypergamma are < 1 g/dL, which is the recommended limited of quantitation for M-protein using SPEP in setting of hypergammaglobulinemia. Conclusion Majority of polyclonal hypergammaglobulinemia cases (83.9%) do not have a monoclonal protein. MASS-FIX allows quantitation of small monoclonal proteins below the SPEP limit of quantitation, which can enhance our understanding of conditions which present with small M-proteins in a polyclonal hypergammaglobulinemia background. Small visual abnormalities within polyclonal hypergamma background on SPEP should be followed-up with immunofixation or MASS-FIX to confirm the presence or absence of M- proteins.

8539 Curcumin a Double Edged Sword: A Case of Curcumin Induced Pituitary Macroadenoma Apoplexy

Abstract Disclosure: P. Balozian: None. D. Alfakara: None. M. Linz: None. <Curcumin, the active component of turmeric, exerts numerous beneficial anti-inflammatory, antiplatelet, and anticoagulant effects. Recent literature has shown however that curcumin inhibits proliferation and induces apoptosis of pituitary cells. Despite these findings, there are limited clinical cases reporting an association between curcumin and pituitary adenoma apoplexy.We report the case of a 39-year old G9P6A3 female with Hashimoto’s disease and class II obesity who presented with a constant bifrontal excruciating headache, blurry vision, photophobia, and nausea. She also had fatigue and amenorrhea for two years. Her exam showed normal vitals, decreased visual acuity, diplopia, and bitemporal hemianopsia. Data showed a serum prolactin of 69 ug/L , plasma IGF-1 of 133 ng/ml (Z score -0.4), TSH of 2.58 with a free T4 of 0.47 ng/dl [0.61-1.12 ng/dL], a random cortisol of 12.7 mcg/dl despite her stress and pain, ACTH of 27 pg/ml, DHEA-S of 46 mcg/dl, an LH of 0.5 IU/L, and an FSH of 4mIU/ml with an estradiol of 25 pg/ml. MRI of the pituitary revealed a 1.8 cm macroadenoma with a mass effect on the overlying optic chiasm and a T1 intrinsic hyperintense signal indicative of a hemorrhagic component. She was given IV dexamethasone for 24 hours then underwent transsphenoidal resection of the hemorrhagic tumor that resulted in rapid resolution of headaches and visual symptoms. She was not given any glucocorticoids during or after surgery. Labs immediately after surgery revealed a prolactin of <1ug/L and a cortisol of 26.7 mcg/dl. Pathology showed corticotroph tumor with hemosiderin deposition with a 4.2% Ki67 and negative ACTH immunostaining. On medication review, patient had been taking large doses of curcumin. In the absence of other recent precipitating factors, it was highly likely that she had curcumin-triggered apoplexy of a pituitary macroadenoma. Most recent bloodwork, about 20 months from presentation, revealed a serum prolactin of 5.0 ug/L, IGF-1 of 123ng/mL (Z score -0.6), TSH of 0.97 mIU/L with a free T4 of 0.85 ng/dL, a random cortisol of 5.3 ug/dL, ACTH of 18.2 pg/mL, DHEA-S of 94 ug/dL, LH of 2.5 IU/L, FSH of 4.3 IU/L, and an estradiol of 45 pg/mL. Regular menstrual cycles had resumed. Headaches, nausea, and vision abnormalities completely resolved.The case illustrates the need to identify any herbal remedies and supplements a patient is taking, particularly turmeric, as supplements may contribute to increased bleeding tendency of an already existing adenoma. The case also emphasizes the potential rapid recovery of pituitary function after surgical resection of an apoplectic pituitary tumor.> Presentation: 6/3/2024

Prevalence of visual abnormalities detected through paediatric vision screening in Queensland, Australia.

Vision screening programs can provide epidemiological information regarding visual impairment in children. This study aims to report the characteristics of visual abnormalities diagnosed through the Primary School Nurse Health Readiness Program (PSNHRP) in Queensland, Australia. A retrospective review of vision screening records from the PSNHRP between January 2017 and December 2020 was undertaken. Children aged between 4 and 7 who underwent vision screening were included for review. Children with a visual acuity of worse than 6/9-1 using the Parr 4 m letter-matching chart or those who failed the SPOT Vision Screener were referred to an optometrist or ophthalmologist for review. 164 890 children underwent vision screening. 12148 children failed visual screening (7.4%) and were referred for an eye assessment. 6011 (69.4%) of the 8659 children who attended ophthalmic review had a confirmed visual abnormality. Of 164 890 screened children, 1187 (0.72%) were confirmed to have anisometropia, 3843 (2.33%) had refractive error, 194 (0.12%) had strabismus, 755 (0.46%) had anisometropic amblyopia, 136 (0.08%) had strabismic amblyopia, and 1356 (0.82%) had an unspecific abnormality. There was no statistically significant difference in the age at screening between any visual abnormality (p = 0.94). Anisometropia, refractive error, and strabismus were significantly more common in females than males (p = 0.03, p < 0.01, and p = 0.03 respectively), whereas anisometropic amblyopia was more common in males (p < 0.01). We report the prevalence of visual abnormalities detected through the PSNHRP vision screening program. Identification of medical or socioeconomic risk factors that are likely to be associated with visual abnormalities can help to optimise vision screening programs.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or ‘wolframinopathies’, exhibit a spectrum of ocular and systemic phenotypes, of which the autosomal recessive Wolfram syndrome has been the most extensively studied. AD mutations in WFS1 also cause various phenotypical changes including OA. The most common phenotype in AD WFS1-associated disease, the combination of OA and hearing loss (HL), clinically resembles the ‘plus’ phenotype of DOA. We performed a comprehensive medical record review across tertiary referral centers in the Netherlands and Belgium resulting in 22 patients with heterozygous WFS1 variants. Eighteen (82%) had HL in addition to OA. Diabetes mellitus was found in 7 (32%). Four patients had isolated OA. One patient had an unusual phenotype with anterior chamber abnormalities and malformations of the extremities. Compared to DOA, AD WFS1-OA patients had different color vision abnormalities (red-green vs blue-yellow in DOA), abnormal OPL lamination on macular OCT (absent in DOA), more generalized thinning of the retinal nerve fiber layer, and more reduced and delayed pattern reversal visual evoked potentials.

Optic pathway gliomas in children: Clinical characteristics, treatment, and outcome of 95 patients in a single center over a 31-year period. Can we avoid radiotherapy?

Optic pathway gliomas (OPG) are rare tumors in children. Lesion extent, visual functions, neurofibromatosis 1 (NF1), and age are factors that guide treatment. This study evaluates the clinical characteristics, treatment, and outcome of children and adolescents with OPG treated over a 31-year period in a single center. Ninety-five patients with OPG diagnosed between January 1990 and December 2021 were retrospectively evaluated. First-line chemotherapy regimen consisted of vincristine and carboplatinum for 1year. Radiotherapy was not used as first-line treatment and tried to be avoided in the ones who progressed after first-line treatment. Ninety-five children (44 male, 51 female) with a median age of 52 (1-216) months were evaluated. Sixty-three (66.3%) had NF1 and 10 (10,5%) diencephalic syndrome. The most common presenting symptoms were visual abnormalities and/or proptosis, nistagmus, and behavioral changes. Twenty-one (22.1%) patients with NF1 had stable disease throughout the follow-up period and received no treatment. Sixty-three of 74 patients received treatment at diagnosis and 11 due to progression during follow-up. Only one adolescent received radiotherapy at progression. Patients who progressed, received further line systemic treatment (vinblastine; bevacizumab; vincristine-cisplatinum-etoposide). Ten-year overall survival in all patients, in patients with NF1, and without NF1 were 97.2%, 98%, and 95.8% (p>.05), respectively; 10-year progression-free survival (PFS) in all patients, in patients with NF1, and without NF1 were 71.6%, 85.7%, and 54.2% (p=.001), respectively. In children with symptomatic/progressive OPG, chemotherapy consisting of vincristine-carboplatinum (VC) is effective. Radiotherapy may be avoided, especially in patients with NF1.

Clinical Characteristics and Underlying Pathophysiology in 4 Subtypes of Dysthyroid Optic Neuropathy Patients

Objective: To analyze different subtypes, clinical characteristics, and pathophysiologies of dysthyroid optic neuropathy (DON) based on orbital fat and extraocular muscle (EOM) volume increases on orbital CT images. Methods: The author retrospectively reviewed the medical records of 80 patients (152 eyes) who were diagnosed with DON and treated at Anam, Guro, or Ansan hospitals of the Korea University College of Medicine from February 2006 to December 2023. Clinical features, ophthalmic examination, demographic characteristics, thyroid status, and radiographic findings from computed tomography scans (prevalence of fat or muscle volume increases) were analyzed. Results: Four groups were designated based on EOM volume (MV) and orbital fat volume (FV). Group 1 had no increase in MV or FV (5.3%, 8 eyes), group 2 had increased FV only (8.66%, 13 eyes), group 3 had an increase in MV only (52.6%, 80 eyes), while group 4 had both MV and FV increase (33.6%, 51 eyes). Patients in group 1 were younger and had low diplopia scores than patients in the other groups. Decreases in visual acuity, color vision abnormalities, diplopia score, and apical crowding were less frequent in groups 1 and 2 than groups 3 and 4 (P=0.000). Patients in groups 3 and 4 had significantly more apical crowding and higher diplopia scores and CAS scores than patients in groups 1 and 2 (P=0.000 and 0.013, respectively). The number of patients who underwent decompression surgery was significantly higher in groups 3 and 4 than groups 1 and 2 (P=0.000). Conclusion: Extraocular muscle enlargement occurred in 86% of DON patients and compression of the optic nerve due to enlargement of EOMs at the orbital apex is the main cause of DON. Optic nerve stretch and vascular insufficiency due to increased orbital pressure are other potential mechanisms underlying DON in groups without an increase in FV or MV. Although decreased visual acuity, color vision abnormalities, and diplopia were less frequent in these groups, greater attention should be paid to the timely diagnosis of DON.

Transsphenoidal Approach for Sellar Region Tumor : A Case Series

Introduction: Transsphenoidal approaches to the sellar region, with endoscopic or microscopic techniques, are regularly used to treat a diverse collection of pathologies. Case Description: Three patients with presenting symptoms visual disturbance and headache were evaluated with MRI that showes sellar region masses. All patients were undergo transphenoid tumor removal. Post operation evaluation show improvement in visual disturbance and headache with no adverse event after procedure. Discussion : Transsphenoidal endoscopic surgery (TSS) for functional pituitary adenomas yields better endocrinologic results for noninvasive macroadenomas. However, the rate of postoperative CSF leakage was greater with the endoscopic method. In patients with pituitary adenomas, younger age, dense visual field defect, and the preoperative absence of central or bilateral visual field abnormalities were predictive factors of visual field recovery following transsphenoidal approach-tumor excision. Overall survival rates are generally high, ranging from 91% to 98%. Conclusion: Transphenoid approach was a good surgical method for sellar region masses and show good outcomes after operation. Keyword : Sellar region masses; Surgical; Transsphenoid approach

Leber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective

IntroductionLeber hereditary optic neuropathy (LHON) is the most commonly diagnosed mitochondrial disorder, resulting in colour vision abnormalities and rapid but painless deterioration of central vision. While numerous studies have assessed the impact of LHON on the quality of life (QoL) of LHON patients, the financial impact of the disease remains unexplored. This study attempts to calculate both the direct non-medical costs and the indirect costs associated with productivity losses experienced by people with LHON and their unpaid caregivers in Slovenia, in addition to assessing their QoL. Due to the rarity of the disease, the study involved a small sample size, which is important to note for interpreting the results.MethodsThe analysis was conducted on nine adult participants diagnosed with LHON, representing one-third of the total number of known Slovenian patients with this condition. To thoroughly assess the economic and social impact of LHON, tailored questionnaires were designed to collect information on demographics, socioeconomic status, LHON severity, and associated non-medical and indirect costs.ResultsThe mean age of the study participants was 48.8 years (SD 13.3; n = 9). The annual productivity loss attributable to LHON, taking both absenteeism and relative presenteeism into account, was calculated to be EUR 11,608 per person affected. The mean VFQ-25 score, a measure of vision-related quality of life, for adult LHON patients was 30.4 (SD 12.9).ConclusionThe findings highlight the significant economic and social burden of LHON on patients and their families. Ensuring prompt, accurate diagnosis, access to treatment, financial support, and psychological counselling and services are critical to helping individuals cope with and mitigate the profound challenges of vision loss and living with LHON.

The Neuroprotective and Anxiolytic Effects of Magnesium Sulfate on Retinal Dopaminergic Neurons in 6-OHDA-Induced Parkinsonian Rats: A Pilot Study.

This study investigates the protective effects of magnesium sulfate on dopamine neurons in the retinas of rats with 6-hydroxydopamine (6-OHDA)-induced Parkinson's disease (PD). Rapidly progressing cognitive decline often precedes or coincides with the motor symptoms associated with PD. PD patients also frequently exhibit visual function abnormalities. However, the specific mechanisms underlying visual dysfunction in PD patients are not yet fully understood. Therefore, this study aims to investigate whether magnesium homeostasis affects dopaminergic neurons in the retina of PD rats. Thirty-six rats were divided into four groups: (1) control, (2) control with magnesium sulfate (control/MgSO4), (3) Parkinson's disease (PD), and (4) Parkinson's disease with magnesium sulfate (PD/MgSO4). The apomorphine-induced (APO) rotation test assessed the success of the PD models. The open-field experiment measured the rats' anxiety levels. Tyrosine hydroxylase (TH) and glutamate levels, indicators of dopamine neuron survival, were detected using immunofluorescence staining. Protein levels of solute carrier family 41 A1 (SCL41A1), magnesium transporter 1 (MagT1), and cyclin M2 (CNNM2) in the retina were analyzed using Western blot. Results showed that, compared to the PD group, rats in the PD/MgSO4 group had improved psychological states and motor performance at two and four weeks post-surgery. The PD/MgSO4 group also exhibited significantly higher TH fluorescence intensity in the left retinas and lower glutamate fluorescence intensity than the PD group. Additional experiments indicated that the protein levels of SLC41A1, MagT1, and CNNM2 were generally higher in the retinas of the PD/MgSO4 group, along with an increase in retinal magnesium ion content. This suggests that magnesium sulfate may reduce glutamate levels and protect dopamine neurons in the retina. Thus, magnesium sulfate might have therapeutic potential for visual functional impairments in PD patients.

Retinal perfusion related to visual field within the same asymmetric thyroid-associated ophthalmopathy

PurposeTo quantify interocular differences in the retinal microvasculature between disparate eyes and explore associations between the retinal microvasculature and visual field abnormalities within the same asymmetric thyroid-associated ophthalmopathy (TAO) patients. MethodsWithin the same asymmetric TAO eye, the eye with a severer visual field abnormality (based on the mean deviation [MD]) was considered a severe eye, and the fellow eye was considered mild. The densities of radial peripapillary capillary (RPC) and superficial retinal capillary plexuses (SRCP) were determined using optical coherence tomography angiography. Interocular differences in RPC and SRCP densities were analyzed. A generalized estimating equation (GEE) was used to form a predictive model for visual field abnormalities. Pearson's correlation was used to show the correlation between MD and the densities of RPC and SRCP. ResultsIn 57 asymmetric TAO patients, the global RPC density in severe eyes was lower than that in mild eyes (P < 0.001), but there was no significant difference in SRCP density between the two groups (P = 0.114). In a multivariate GEE model with MD as the outcome, MD was associated only with global RPC density (coefficient β=0.327, P < 0.001). The global RPC density was correlated with MD (r = 0.360, P = 0.003) in severe eyes, but not in mild eyes (r = 0.179, P = 0.092). No significant correlation was observed between global SRCP density and MD in either group (Both P > 0.05). ConclusionsRPC density decreased significantly and correlated with visual field abnormalities in severe eyes of TAO patients. Alterations in RPC density may contribute to visual field abnormalities in TAO eyes.

Orbital Involvement as an Initial Presentation of Sinonasal Neuroendocrine Carcinoma

Purpose: To present a case of sinonasal neuroendocrine cancer initially manifesting with orbital involvement.Case summary: A 63-year-old female patient visited a neuro-ophthalmologic clinic due to a 3-week history of decreased visual acuity (VA), color vision abnormalities, and swelling of the upper eyelid in right eye. Best-corrected VA (BCVA) in the right eye was 0.8. Clinical findings included a relative afferent pupillary defect, restricted eye movement in lateral, superior, and medial gaze, and exophthalmos in the right eye. Wide-field fundus photography and optical coherence tomography indicated swelling of right optic disc. Magnetic resonance imaging was performed revealing a mass invading nasal cavity, sinus, and right orbital apex, and compressing the medial rectus, inferior rectus, superior oblique, and optic nerve. An otolaryngological nasal biopsy was conducted and immunohistochemical staining showed positive results for Ki-67, NSE, p16, P-53, and CD56, leading to a diagnosis of small cell neuroendocrine carcinoma with an irreducible tumor stage. Prior to initiation of treatment (concurrent chemoradiotherapy, CCRT), there was rapid worsening of VA and eye movement in the right eye. CCRT commenced alongside high-dose steroid treatment. One month following treatment, the BCVA of the right eye improved and protrusion of the right eye resolved. Six months after starting CCRT, a contrast-enhanced orbital computed tomography scan showed no residual lesion. The BCVA of the right eye stabilized at 0.3 with complete recovery of color vision and eye movement.Conclusions: Neuroendocrine cancer should be considered as a possible diagnosis in cases of rapidly progressing compressive optic neuropathy.

Age-Matched Comparative Analysis of Binocular Vision Anomalies among Children with Dyslexia in Northern Nigeria.

Background: Dyslexia, a neurodevelopmental disorder affecting reading skills, poses significant challenges to children's academic performance and quality of life. Despite its rising prevalence and adverse effects, understanding of its relationship with vision anomalies remains limited, particularly in low-resource settings like Nigeria. This study aims to assess the prevalence of binocular vision anomalies (BVAs) among children with and without dyslexia in Kano, Nigeria. Methods: This is a hospital-based, cross-sectional, matched-paired, controlled study conducted at the Aminu Kano Teaching Hospital (AKTH) Eye Clinic in Northern Nigeria. The study included school children who visited the AKTH Eye Clinic from January 2018 to December 2022. Visual acuity tests, external eye examinations and accommodative, binocular vision and oculomotor skills tests were conducted. Descriptive statistics, independent t-tests, Mann-Whitney U tests and Fisher's exact tests were conducted, with a significance level set at p < 0.05. Results: Forty-four children aged 12 ± 2 years participated. Children with dyslexia reported higher rates of visual symptoms than those without dyslexia, Blurring vision, visual distortion and eye strain were the most prevalent (p < 0.05) BV symptoms. Accommodative insufficiency), was the most common visual abnormality, and was significantly higher in children with dyslexia than those without dyslexia (45.5% vs. 18.2%). However, other visual anomalies showed no significant difference between groups. There was a high prevalence of binocular vision anomalies in both groups. Binocular test findings showed dyslexic children had significantly lower distance positive fusional vergence recovery values (p = 0.005). All cases of convergence insufficiency alone were found in the non-dyslexic group. Conclusions: The study found that children with dyslexia residing in Northern Nigeria demonstrated higher rates of visual symptoms, more accommodative insufficiency and lower distance positive fusional vergence recovery values compared to their non-dyslexic counterparts.

Iridology based human health conditions predictions with computer vision and deep learning

In today’s world, ocular diseases have become widespread. The “ocular illness” refers to any abnormality, impairment, or dysfunction of vision that impacts the eye. The most common forms of ocular disease include dry eyes, conjunctivitis, blepharitis, and glaucoma. Each of these conditions can cause redness, pain, and blurry vision. To resolve the challenges in human ocular diseases, the need for detection becomes an important part of every person’s life. There are numerous approaches by various researchers to detect and predict the disease early, but the previous approaches required certain improvements to predict the ocular disease more accurately and easily. In the proposed method, deep learning-based ocular disease prediction with high accuracy and low cost is implemented. The framework deals with the collection of data from the diabetes-iridology dataset and pre-processing using the Contrast limited adaptive histogram equalization (CLAHE). The Attenuation-based U-net is the most advanced proposed method used for the segmentation of ocular disease with higher accuracy. The Adaptive Residual Squeeze and Excitation network (ARSEnet) is the proposed method used for a better classification process. Based on the evaluation results, the proposed technique better classified eye illness. The Python tool is used to carry out the recommended method. The proposed strategy outperformed others in terms of accuracy, precision, specificity, recall, and f1 score. The accuracy rate of the proposed method is 97.02%. The resultant analysis clearly proves that the proposed system provides the best accuracy for predicting ocular disease.

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In this study, we reported a Tunisian patient manifesting hypotonia and global developmental delay with visual and skin abnormalities. Exome sequencing was conducted followed by segregation analysis and, subsequently additional investigations. In silico analysis of non-synonymous variants (nsSNPs) described in COG5 in conserved positions was made. Results revealed a homozygous missense variant c.298 C > T (p.Leu100Phe) in the COG5 inherited from both parents. This variant altered both protein solubility and stability, in addition to a putative disruption of the COG5-COG7 interaction. This disruption has been confirmed using patient-derived cells in vitro in a COG5 co-immuno-precipitation, where interaction with binding partner COG7 was abrogated. Hence, we established the COG5-CDG diagnosis. Clinically, the patient shared common features with the already described cases with the report of the ichtyosis as a new manifestation. Conversely, the CADD scoring revealed 19 putatively pathogenic nsSNPs (Minor Allele Frequency MAF < 0.001, CADD > 30), 11 of which had a significant impact on the solubility and/or stability of COG5. These properties seem to be disrupted by six of the seven missense COG5-CDG variants. In conclusion, our study expands the genetic and phenotypic spectrum of COG5-CDG disease and highlight the utility of the next generation sequencing as a powerful tool in accurate diagnosis. Our results shed light on a likely molecular mechanism underlying the pathogenic effect of missense COG5 variants, which is the alteration of COG5 stability and solubility.

Stabilizing axin leads to optic nerve hypoplasia in a mouse model of autism

Autism spectrum disorder (ASD) is a group of neurodevelopment disorders characterized by deficits in social interaction and communication, and repetitive or stereotyped behavior. Autistic children are more likely to have vision problems, and ASD is unusually common among blind people. However, the mechanisms behind the vision disorders in autism are unclear. Stabilizing WNT-targeted scaffold protein Axin2 by XAV939 during embryonic development causes overproduction of cortical neurons and leads to autistic-like behaviors in mice. In this study, we investigated the relationship between vision abnormality and autism using an XAV939-induced mouse model of autism. We found that the mice receiving XAV939 had decreased amplitude of bright light-adaptive ERG. The amplitudes and latency of flash visual evoked potential recorded from XAV939-treated mice were lower and longer, respectively than in the control mice, suggesting that XAV939 inhibits visual signal processing and conductance. Anatomically, the diameters of RGC axons were reduced when Axin2 was stabilized during the development, and the optic fibers had defective myelin sheaths and reduced oligodendrocytes. The results suggest that the WNT signaling pathway is crucial for optic nerve development. This study provides experimental evidence that conditions interfering with brain development may also lead to visual problems, which in turn might exaggerate the autistic features in humans.

Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review.

The calcium/calmodulin-dependent protein kinase II-beta ( CAMK2B ) gene is important for calcium signaling and glutamatergic synapses, which impacts neuroplasticity and learning. Mutations in the CAMK2B gene, which cause autosomal dominant mental retardation 54 (Online Mendelian Inheritance in Man # 617799), can have multisystemic clinical impact. Due to the rarity of CAMK2B mutations at present, case reports about patients with CAMK2B mutations are limited. The present case report describes a patient with CAMK2B -related disorder confirmed by whole exome sequencing and adds to the current information in the literature. We review three case reports in literature with detailed descriptions of patients presenting with mutations in the CAMK2B gene. While there is a broad spectrum of phenotypic presentations, there appears to be an emerging neurobehavioral phenotype. Optimal management of patients will require attention to behavioral issues as well as involvement of neuropsychiatric expertise along with other supports for development and vision abnormalities.

Assessment of Animal Welfare at an Exotic Animal Fair in Poland: A Focus on the Quality of Exhibition Containers for Reptiles and Amphibians.

Given the growing number of events involving exotic animals, it is crucial to prioritize the well-being of the animals involved. This study aims to evaluate the quality of animal presentation at a selected fair in Poland and assess the level of animal welfare evident in the exhibition boxes, contributing to the ongoing dialogue on this important issue. The evaluators used a five-point Likert scale and a Yes/No system to analyze the living conditions during the fair, including the size of containers, presence of substrate, and environmental enrichment. They also assessed the occurrence of visual abnormal postures and behaviors to gauge the overall level of welfare. To ensure the reliability and consistency of the data and minimize potential bias, each evaluator repeated the rating process three times, with a three-week interval between each session. An average value was then calculated for each aspect. A total of 818 animals were present at the fair, with 688 being reptiles (84.11%) and 130 being amphibians (15.89%). This study revealed that the provision of substrate scored higher for reptiles compared to amphibians, while the size of containers for amphibians received higher ratings than those for reptiles. Visual abnormalities in posture and behavior were more common in reptiles than in amphibians. Display containers for snakes received the lowest ratings and showed more visual abnormalities in posture and behavior, raising concerns about their welfare. Despite the presence of environmental enrichment, the overall level of animal welfare was assessed as being medium/low. Pearson's correlation coefficient indicated good reliability among the evaluators during the assessment process, with most assessments showing values > 0.8. Despite existing regulations for exhibitors, neglect remains prevalent. These findings highlight the potential negative impact of animal exposure at fairs on animal welfare. Display containers were often inadequately sized for the animals, particularly for snakes, chameleons, monitor lizards, and salamanders.

The Effect of Perinatal High‐Dose Erythropoietin on Retinal Structural and Vascular Characteristics in Children Born Preterm

To study the long-term effects of perinatal high-dose recombinant human erythropoietin (rhEPO) on macular structural and vascular development in preterm children. Randomized, double-blind clinical trial follow-up plus cohort study. Setting: Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland. extremely or very preterm born children aged 7-15 years from an ongoing neuropediatric study (EpoKids). These had been previously randomized to receive either high-dose rhEPO or placebo perinatally. participation in the EpoKids Study, written informed consent (IC). previous ocular trauma or surgery; retinal or developmental disease unrelated to prematurity. Term-born children of comparable age were enrolled as a healthy control (HC) group. term birth, IC. any ocular or visual abnormality, high refractive error. Examiners were blinded regarding intervention status until completion of all analyses. (Participants/guardians remain blinded). Spectral-domain OCT scans (Heidelberg Spectralis system) and OCTA imaging (Zeiss PlexElite 9000) were obtained. Ophthalmological and orthoptic examinations excluded ocular comorbidities. OCT (central retinal thickness, CRT; total macular volume, TMV), superficial plexus OCTA (foveal avascular zone, FAZ; vessel density, VD; vessel length density, VLD) parameters and foveal hypoplasia grade according to published criteria. Macular vessel density parameters (VD and VLD) were significantly lower (p =0.015, CI-95: 0.01 to 0.06 and p=0.015, CI-95: 0.74 to 3.64) in the EPO group (n= 52) when compared to placebo (n=35). No other significant differences were observed between the EPO and placebo group. When comparing the intervention subgroups to HC we found six significant differences in OCT and OCTA parameters (FAZ, VD, VLD and CRT comparing HC and EPO group; FAZ and CRT when comparing HC and placebo group). Early high-dose rhEPO in infants born extremely or very preterm affects macular vessel density parameters compared to placebo. Premature birth (regardless of intervention status) affects retinal structure and vascular development. Our findings on macular vascular development do not contraindicate the administration of early high-dose EPO in preterm infants. For further understanding of the role of EPO on macular development and its clinical significance, future studies are needed.