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Background: Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. They are one of the important causes of morbidity and mortality in children with diverse etiologies. Diagnosis is difficult despite genetic work, and a final diagnosis can be achieved in only 60% of cases. Case presentation: We explore three Indian cases of pediatric neurological diseases (with age presented at the clinic), viz. arthrogryposis (8 years), autism (18 months), and congenital bilateral cataract (3 years), by analyzing clinical exomes. In this work, we attempt to understand rare neurological disorders in an Indian pediatric cohort using exome studies. Conclusion: We used our benchmarked CONVEX pipeline for screening consensus variants, wherein EIF2B2 was found to be inherently pathogenic. We map the association of variants and genes and disease correlation to neuroleptic malignant syndrome, which matches the phenotype to the cases. [ABSTRACT FROM AUTHOR]

Cataract surgery is most commonly performed today by utilizing the standardized phacoemulsification technique which results in successful outcomes and low complication rates. At present, most patients undergo cataract surgery in both eyes on separate days, referred to as delayed sequential cataract surgery (DSCS). Immediately sequential bilateral cataract surgery (ISBCS) has emerged as an alternative to traditional DSBCS and is, however, increasingly used in clinical practice throughout the world. The question arises: How safe is ISBCS with respect to postoperative complications?

Background: Childhood blindness remains a neglected issue in eye care within low-income countries, with congenital and juvenile cataracts being the most common treatable causes. This study aims to investigate the factors influencing the management of congenital and juvenile bilateral cataracts, provide data on general outcomes and postoperative findings, and discuss treatment in a low-income country context. Methods: In this prospective study, data from clinical care were continuously entered into a database, and one follow-up examination of a cohort of 91 patients with congenital and juvenile bilateral cataracts in Kinshasa, Democratic Republic of the Congo, was conducted. Multiple factors that affect the first clinical presentation, the clinical management, and outcome were investigated. Results: Most patients (88.5%) who received medical treatment were identified by cataract finders. A patient's presentation time was independent of the parent's education, social status, income, and sex of the child. The median age at first presentation was 5.8 years (ranging from 0 days to 17.3 years). The best visual acuity outcomes were achieved by patients who underwent surgery during early childhood. According to WHO grades and on an eye level basis, 51.1% (93 out of 182 eyes) showed improvement, while 34.6% (63 eyes) had unchanged results post-surgery. Among the cases without improvement, 76.2% were blind prior to surgery. Postoperative findings were observed in 56% of the patients, with secondary cataracts being the most common, affecting 26.37% of the operated eyes. Conclusions: Optimal management of childhood cataracts involves early identification, efficient hospital infrastructure, high-quality medical care, and long-term follow up. In sub-Saharan Africa, this approach must be adapted to the context of available resources, which differs significantly from those in high- and middle-income countries. [ABSTRACT FROM AUTHOR]

Background: Childhood blindness remains a neglected issue in eye care within low-income countries, with congenital and juvenile cataracts being the most common treatable causes. This study aims to investigate the factors influencing the management of congenital and juvenile bilateral cataracts, provide data on general outcomes and postoperative findings, and discuss treatment in a low-income country context. Methods: In this prospective study, data from clinical care were continuously entered into a database, and one follow-up examination of a cohort of 91 patients with congenital and juvenile bilateral cataracts in Kinshasa, Democratic Republic of the Congo, was conducted. Multiple factors that affect the first clinical presentation, the clinical management, and outcome were investigated. Results: Most patients (88.5%) who received medical treatment were identified by cataract finders. A patient’s presentation time was independent of the parent’s education, social status, income, and sex of the child. The median age at first presentation was 5.8 years (ranging from 0 days to 17.3 years). The best visual acuity outcomes were achieved by patients who underwent surgery during early childhood. According to WHO grades and on an eye level basis, 51.1% (93 out of 182 eyes) showed improvement, while 34.6% (63 eyes) had unchanged results post-surgery. Among the cases without improvement, 76.2% were blind prior to surgery. Postoperative findings were observed in 56% of the patients, with secondary cataracts being the most common, affecting 26.37% of the operated eyes. Conclusions: Optimal management of childhood cataracts involves early identification, efficient hospital infrastructure, high-quality medical care, and long-term follow up. In sub-Saharan Africa, this approach must be adapted to the context of available resources, which differs significantly from those in high- and middle-income countries.

Cataract surgery is most commonly performed today by utilizing the standardized phacoemulsification technique which results in successful outcomes and low complication rates. At present, most patients undergo cataract surgery in both eyes on separate days, referred to as delayed sequential cataract surgery (DSCS). Immediately sequential bilateral cataract surgery (ISBCS) has emerged as an alternative to traditional DSBCS and is, however, increasingly used in clinical practice throughout the world. The question arises: How safe is ISBCS with respect to postoperative complications? [ABSTRACT FROM AUTHOR]

The exponential increase in world population and average human lifespan is expected to result in geriatric population globally. The problem of preventable blindness due to cataract will increase manifold. Simultaneous Bilateral cataract surgery (SBCS) is a viable option in such subset of patients. Despite faster visual recovery, economic benefits to patients and health care providers, decreased risk of complications associated with General anaesthesia, there is significant resistance in accepting SBCS as a routine procedure. Bilateral endophthalmitis is the main deterrent in performing ISBCS. This case highlights successful ISBCS in 36 years old female patient with Down's syndrome.

The exponential increase in world population and average human lifespan is expected to result in geriatric population globally. The problem of preventable blindness due to cataract will increase manifold. Simultaneous Bilateral cataract surgery (SBCS) is a viable option in such subset of patients. Despite faster visual recovery, economic benefits to patients and health care providers, decreased risk of complications associated with General anaesthesia, there is significant resistance in accepting SBCS as a routine procedure. Bilateral endophthalmitis is the main deterrent in performing ISBCS. This case highlights successful ISBCS in 36 years old female patient with Down's syndrome. [ABSTRACT FROM AUTHOR]

Ying Ru Feng,1,2 Lynn B Meuleners,2 Michelle L Fraser,2 Kate J Brameld,2 Seraina Agramunt2 1School of Population and Global Health, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, Australia; 2Curtin-Monash Accident Research Centre (C-MARC), Faculty of Health Sciences, Curtin University, Perth, WA, Australia Purpose: The purpose of this study was to investigate the impact of the first and second eye cataract surgeries on the risk of falls in participants with bilateral cataract and to determine which changes in visual measures are associated with changes in the number of falls throughout the cataract surgery process.Patients and methods: Fifty-five older adults with bilateral cataract aged 55+ years were assessed at three time points during the cataract surgery process, and they completed a falls diary. Two separate generalized estimating equation–negative binomial models were undertaken to assess changes in the number of falls before first eye cataract surgery, between first and second eye surgeries, and after second eye cataract surgery and which changes in visual measures were associated with changes in the number of falls.Results: After adjusting for potential confounding factors, the risk of falls decreased by 54% (incidence rate ratio (IRR) =0.458, 95% CI=0.215–0.974, p=0.04) after first eye cataract surgery only, compared with the period before first eye surgery. The risk of falls decreased by 73% (IRR =0.268, 95% CI =0.114–0.628, p=0.002) after second eye cataract surgery, compared with the period before first eye surgery. Improved binocular visual acuity (IRR =5.488, 95% CI =1.191–25.282, p=0.029) and contrast sensitivity (IRR =0.257, 95% CI =0.070–0.939, p=0.040) were associated with a decrease in the number of falls.Conclusion: The study found that first and second eye cataract surgeries reduced the risk of falls among a cohort of bilateral cataract patients with relatively good baseline vision. This suggests that timely first and second eye cataract surgeries could play an important role in reducing the burden due to falls among older adults with cataract. Keywords: vision, bilateral cataract, older population, injuries

Abstract Background Hypocalcemia is a derangement in serum calcium level due to a vast spectrum of disorders, but the most common cause is surgery, usually thyroid gland surgery. Symptoms of hypocalcemia can be due to increased neuromuscular excitation resulting in tetany, paresthesia or seizure. It can also be because of deposition of calcium in soft tissues producing reduced vision /cataract or calcification of basal ganglia. Cataract is the most common ocular symptom of hypocalcemia. Case report A twenty-six years old Ethiopian female patient presented with painless reduction of vision of both eyes. Five years prior to the reduction of vision she was diagnosed to have hypocalcemia. The serum calcium level was very low (3 mg/dl) due to damage to the parathyroid gland during total thyroidectomy for toxic goiter. She has been on supplemental calcium gluconate twice daily. She had typical bilateral symmetrical posterior sub capsular cataract with punctate iridescent opacities in the anterior and posterior cortex of the lens. Systemic examination revealed horizontal surgical scar on the anterior neck and positive Chvostek sign.

To evaluate outcomes of bilateral cataract surgery in children aged 7 to 24 months and compare rates of adverse events (AEs) with other Toddler Aphakia and Pseudophakia Study (TAPS) registry outcomes. Retrospective clinical study at 10 Infant Aphakia Treatment Study (IATS) sites. Statistical analyses comparing this cohort with previously reported TAPS registry cohorts. Children enrolled in the TAPS registry between 2004 and 2010. Children underwent bilateral cataract surgery with or without intraocular lens (IOL) placement at age 7 to 24 months with 5 years of postsurgical follow-up. Visual acuity (VA), occurrence of strabismus, AEs, and reoperations. A total of 40 children (76 eyes) who underwent bilateral cataract surgery with primary posterior capsulectomy were identified with a median age at cataract surgery of 11 months (7–23); 68% received a primary IOL. Recurrent visual axis opacification (VAO) occurred in 7.5% and was associated only with the use of an IOL (odds ratio, 6.10; P = 0.005). Glaucoma suspect (GS) was diagnosed in 2.5%, but no child developed glaucoma. In this bilateral cohort, AEs (8/40, 20%), including glaucoma or GS and VAO, and reoperations occurred in a similar proportion to that of the published unilateral TAPS cohort. When analyzed with children aged 1 to 7 months at bilateral surgery, the incidence of AEs and glaucoma or GS correlated strongly with age at surgery (P = 0.011/0.004) and glaucoma correlated with microcornea (P = 0.040) but not with IOL insertion (P = 0.15). Follow-up to age 5 years after bilateral cataract surgery in children aged 7 to 24 months reveals a low rate of VAO and very rare glaucoma or GS diagnosis compared with infants with cataracts operated at < 7 months of age despite primary IOL implantation in most children in the group aged 7 to 24 months. The use of an IOL increases the risk of VAO irrespective of age at surgery. [ABSTRACT FROM AUTHOR]

Maffucci syndrome is a sporadic, non-hereditary condition that is characterized by the presence of multiple skeletal and vascular lesions. We present the case of a 37-year-old man who complained of multiple swellings on the hands, face and wrists affecting the quality of his life. Bilateral cataract and renal impairment were two other features identified in our patient. Renal impairment was likely due to renal vascular malformation, as all other causes of renal compromise were ruled out. Radiographic images showed multiple radiolucent areas in both hands. Multiple enchondromas with pathologic confirmation of skin lesions as cavernous haemangiomas confirmed the diagnosis of Maffucci syndrome in our patient. The patient was referred to the orthopaedic department for osteotomy. Currently, the patient is on dialysis and no other complications have been observed in follow-up visits. This is the first report of Maffucci syndrome which discusses renal involvement. Regular screening of renal functions in patients with Maffucci syndrome could prevent renal complications.

Abstract Background Driving a car is the most common form of transport among the older population. Common medical conditions such as cataract, increase with age and impact on the ability to drive. To compensate for visual decline, some cataract patients may self-regulate their driving while waiting for cataract surgery. However, little is known about the self-regulation practices of older drivers throughout the cataract surgery process. The aim of this study is to assess the impact of first and second eye cataract surgery on driver self-regulation practices, and to determine which objective measures of vision are associated with driver self-regulation. Methods Fifty-five older drivers with bilateral cataract aged 55+ years were assessed using the self-reported Driving Habits Questionnaire, the Mini-Mental State Examination and three objective visual measures in the month before cataract surgery, at least one to three months after first eye cataract surgery and at least one month after second eye cataract surgery. Participants’ natural driving behaviour in four driving situations was also examined for one week using an in-vehicle monitoring device. Two separate Generalised Estimating Equation logistic models were undertaken to assess the impact of first and second eye cataract surgery on driver-self-regulation status and which changes in visual measures were associated with driver self-regulation status. Results The odds of being a self-regulator in at least one driving situation significantly decreased by 70% after first eye cataract surgery (OR: 0.3, 95% CI: 0.1–0.7) and by 90% after second eye surgery (OR: 0.1, 95% CI: 0.1–0.4), compared to before first eye surgery. Improvement in contrast sensitivity after cataract surgery was significantly associated with decreased odds of self-regulation (OR: 0.02, 95% CI: 0.01–0.4). Conclusions The findings provide a strong rationale for providing timely first and second eye cataract surgery for older drivers with bilateral cataract, in order to improve their mobility and independence.

Purpose: To evaluate the factors affecting visual prognosis in bilateral pediatric cataracts and the complications of surgery. Materials and method: The records of 40 patients operated for bilateral congenital cataract at GÜTF Eye Clinic between 2010-2018 were retrospectively analyzed. Peroperatively capsulotomy, lens aspiration, posterior capsulotomy and anterior vitrectomy were performed. Primary iol implantation was performed in cases over one year of age. Secondary IOL implantation was performed at 2 years of age unless contraindicated. Visual acuity, intraocular pressure, presence of strabismus, amblyopia, nystagmus and surgical complications were evaluated. Results: The mean follow-up period was 4 years (1 month-8 years). 22 of the cases were male (55%) and 18 were female (45%). Seventeen patients (42.5%) underwent surgery before 3 months of age, and 23 patients (57.5%) underwent surgery after 3 months of age. 8 out of 30 patients who left aphakic went for secondary IOL implantation at the mean age of 5 years. The mean postoperative BCVA was 0.4 logMAR±0.4 (P +/ - 0 logMAR). The BCVA of the group undergoing IOL implantation was statistically higher (p = 0.007). Nystagmus was present in 6 out of 22 patients who left aphakic where postoperative nystagmus was recorded 3 out of 18 patients with IOL implanted. Two cases showed posterior capsule opasification, where, 1 retinal detachment, 1 glaucoma and 1 IOL subluxation cases were recorded as complications. Conclusion: IOL implantation was associated with good visual prognosis and the presence of nystagmus was associated with poor visual prognosis in bilateral childhood cataracts. [ABSTRACT FROM AUTHOR]

Purpose. To evaluate the efficacy of surgical treatment of patients with bilateral cataract and different intervals between two operations. Material and methods. The authors analyzed the results of treatment of 486 patients with bilateral cataracts. The authors identified a possible favorable interval between first and second operations in case of bilateral cataract, which was based on the clinical, functional and immunological parameters. Results. Recommended time of surgery of the pair eye in 114 patients of the main group allow to reveal a high functional results (0.7-1.0) in 90.4% in the first and in 85.1% of cases in the pair eye, which contributed to the restoration of binocular function in 98% of cases after surgery as soon as possible. In all patients of the group in case of bilateral implantation of multifocal IOLs after surgery in both eyes clear vision at different distances in the shortest possible time were achieved. Selected dates of cataract surgery on both eyes allows to reduce the emotional cost, time and organizational problems in preparation for the operation, adding the benefits of quality of early rehabilitation after surgery on both eyes. Conclusion. Phacoemulsification with perioperative antibiotic prophylaxis were no later than 4 days after the operation on the first eye, if it was no complications after surgery and in post-operative period in the first eye.

ABSTRACT The Determination of the tactics for surgical cataract treatment in the fellow eye in patients with bilateral cataracts did not received any unambiguous solution till now and the periods of operation performance are interpreted differently. The authors analyzed the results of treatment in 486 patients with bilateral cataracts. The authors identified a possible favorable interval between first and second operations in case of bilateral cataract, which was based on the clinical, functional and immunological parameters. Phacoemulsifications with peri-operative antibiotic prophylaxis were carried out not later than 4 days after the operation on the first eye, if there were no complications intra-operatively and in post-operative period in the first eye. Recommended time of surgery in the fellow eye in 114 patients of the main group allowed to reveal high functional results (0.7-1.0) in 90.4% in the first eye and in 85.1% of cases in the fellow eye, that promoted the restoration of binocular functions in 98 % of cases after surgery in the shortest possible time. In all patients of the main group the clear vision at different distances were achieved after surgery with bilateral implantation of multifocal IOLs in both eyes in the maximum shortest time. Selected dates of cataract surgery in both eyes taking into account the general and associated ocular pathology allows to reduce the emotional cost, time and organizational problems in preparation for the operation, adding the benefits of quality of early rehabilitation after surgery in both eyes.

There is a proved relationship between diabetes mellitus and the cataract formation. The incidence of this is usually related to the duration of diabetes. In this manuscript we report a 15 years old female presented to the emergency room with a 4 hour history of rapid bilateral diminished vision, initially diagnosed with idiopathic cataracts, but after more laboratory evaluations revealed new-onset type 1 diabetes mellitus without ketosis.

Abstract: Objectives: The aim of this study is to evaluate the potential impact of mutations in the promoter region of the L ferritin gene on its transcriptional activity. Design and methods: To search for the presence of mutations in the promoter of the L gene, we amplified by PCR a DNA region of about 385 n.t. in 100 healthy subjects from Southern Italy. Results: A subject carrying a C to A transition in position −216 was identified. This transition causes an increased transcriptional activity in vitro. This finding was substantiated by Real Time Quantitative PCR, which showed increased levels of L ferritin mRNA. Conclusions: A previously unidentified mutation in the promoter region of the L ferritin gene was detected in an individual. Interestingly, this subject is affected by bilateral cataract, a disease that has been correlated, in a subset of patients, with high levels of circulating ferritin. We hypothesize that changes in the expression of the L ferritin might be linked, at least to a certain extent, to the pathogenesis of this rare eye disease. [Copyright &y& Elsevier]

A bilateral simultaneous cataract surgery (BSCS) was performed on a 67-year-old man. The surgeon had not changed the surgical settings in between the two procedures for the two eyes. The patient developed fulminant bilateral endophthalmitis a day following the BSCS. Intravitreal culture grew Pseudomonas aeruginosa . The source of infection was not found. Immediate bilateral vitrectomy and intravitreal, subconjunctival, topical and systemic antibiotic did not save the eyes. Patient ended up with bilateral visual loss.

Background: Next-generation sequencing, combined with international pooling of cases, has impressively enhanced the discovery of genes responsible for Mendelian neurodevelopmental disorders, particularly in individuals affected by clinically undiagnosed diseases. To date, biallelic missense variants in ZNF526 gene, encoding a Krüppel-type zinc-finger protein, have been reported in three families with non-syndromic intellectual disability., Methods: Here, we describe five individuals from four unrelated families with an undiagnosed neurodevelopmental disorder in which we performed exome sequencing, on a combination of trio-based (4 subjects) or single probands (1 subject)., Results: We identified five patients from four unrelated families with homozygous ZNF526 variants by whole exome sequencing. Four had variants resulting in truncation of ZNF526; they were affected by severe prenatal and postnatal microcephaly (ranging from -4 SD to -8 SD), profound psychomotor delay, hypertonic-dystonic movements, epilepsy and simplified gyral pattern on MRI. All of them also displayed bilateral progressive cataracts. A fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe intellectual disability and unremarkable brain MRI.Mutant znf526 zebrafish larvae had notable malformations of the eye and central nervous system, resembling findings seen in the human holoprosencephaly spectrum., Conclusion: Our findings support the role of ZNF526 biallelic variants in a complex neurodevelopmental disorder, primarily affecting brain and eyes, resulting in severe microcephaly, simplified gyral pattern, epileptic encephalopathy and bilateral cataracts., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Introduction: The leading cause of childhood blindness globally is paediatric cataract. Bilateral cataract surgery can help to improve visual performance and to diminish the burden of childhood blindness., Objective: To report in a retrospective observational cohort study the long-term outcomes of 298 children who had bilateral cataract surgery with IOL implantation from 2001-2016 in Kinshasa., Methods: A standardized surgical treatment of paediatric cataract was practiced on 298 children. Patient's follow-up, complications, and visual outcomes were recorded and analysed., Results: The mean age was 5.7 ± 4.3 years and males were predominant (64.9%). Most of children were living mainly in urban poorest areas (96.3%). Strabismus, nystagmus and microcornea were encountered in 20.1%, 25.1% and 8.7% of children, respectively. Using WHO criteria most of patients were classified as blind preoperatively and 81.9% of them had improved visual outcomes after surgery. Main reasons for reduced vision during follow-up were secondary cataract (5.7%), IOL decentration (1.2%), retinal detachment (1.2%), and secondary glaucoma (1.5%)., Conclusion: In spite of the post conflict challenges, elimination of cataract blindness in children remains a priority. Children present at a late age for surgery and long term follow-up is poor. There is need for program strengthening in these areas., (© 2020 Ngoy JK et al.)

Background: Hypocalcemia is a derangement in serum calcium level due to a vast spectrum of disorders, but the most common cause is surgery, usually thyroid gland surgery. Symptoms of hypocalcemia can be due to increased neuromuscular excitation resulting in tetany, paresthesia or seizure. It can also be because of deposition of calcium in soft tissues producing reduced vision /cataract or calcification of basal ganglia. Cataract is the most common ocular symptom of hypocalcemia.Case Report: A twenty-six years old Ethiopian female patient presented with painless reduction of vision of both eyes. Five years prior to the reduction of vision she was diagnosed to have hypocalcemia. The serum calcium level was very low (3 mg/dl) due to damage to the parathyroid gland during total thyroidectomy for toxic goiter. She has been on supplemental calcium gluconate twice daily. She had typical bilateral symmetrical posterior sub capsular cataract with punctate iridescent opacities in the anterior and posterior cortex of the lens. Systemic examination revealed horizontal surgical scar on the anterior neck and positive Chvostek sign. [ABSTRACT FROM AUTHOR]

Background: Driving a car is the most common form of transport among the older population. Common medical conditions such as cataract, increase with age and impact on the ability to drive. To compensate for visual decline, some cataract patients may self-regulate their driving while waiting for cataract surgery. However, little is known about the self-regulation practices of older drivers throughout the cataract surgery process. The aim of this study is to assess the impact of first and second eye cataract surgery on driver self-regulation practices, and to determine which objective measures of vision are associated with driver self-regulation.Methods: Fifty-five older drivers with bilateral cataract aged 55+ years were assessed using the self-reported Driving Habits Questionnaire, the Mini-Mental State Examination and three objective visual measures in the month before cataract surgery, at least one to three months after first eye cataract surgery and at least one month after second eye cataract surgery. Participants' natural driving behaviour in four driving situations was also examined for one week using an in-vehicle monitoring device. Two separate Generalised Estimating Equation logistic models were undertaken to assess the impact of first and second eye cataract surgery on driver-self-regulation status and which changes in visual measures were associated with driver self-regulation status.Results: The odds of being a self-regulator in at least one driving situation significantly decreased by 70% after first eye cataract surgery (OR: 0.3, 95% CI: 0.1-0.7) and by 90% after second eye surgery (OR: 0.1, 95% CI: 0.1-0.4), compared to before first eye surgery. Improvement in contrast sensitivity after cataract surgery was significantly associated with decreased odds of self-regulation (OR: 0.02, 95% CI: 0.01-0.4).Conclusions: The findings provide a strong rationale for providing timely first and second eye cataract surgery for older drivers with bilateral cataract, in order to improve their mobility and independence. [ABSTRACT FROM AUTHOR]