Significant Visual Impairment Research Articles

Antithrombotic use in retinal artery occlusion: A narrative review.

Retinal artery occlusion (RAO) is a critical ophthalmic emergency with a high risk of significant visual impairment. While traditional treatment aims to promptly restore blood flow to the retina, recent research has investigated the potential benefits of anticoagulation therapy for managing this condition. This paper reviews current literature and clinical trials investigating the efficacy and safety of anticoagulant and antiplatelet therapies, such as systemic heparinization and direct oral anticoagulants and aspirin, in treating RAO. The mechanism of action involves preventing thrombus propagation and platelet aggregation to promote microvascular circulation, potentially mitigating ischemic damage and improving visual outcomes. However, controversies exist regarding the optimal timing, duration, and selection of antithrombotic agents due to the risk of hemorrhagic complications. Further large-scale prospective studies are warranted to establish evidence-based guidelines for incorporating antithrombotic into the standard management of RAO. This paper underscores the evolving landscape of antithrombotic therapy as a promising adjunctive treatment strategy in the management of retinal artery occlusion.

ULTRASOUND AS A SCREENING TOOL FOR FETAL GLAUCOMA: A CLINICAL APPROACH

The World Health Organization's VISION 2020 initiative has recognised paediatric glaucoma as the third leading cause of significant visual impairment and blindness in children in low- and middle-income countries, accounting for 5% of global childhood blindness. Childhood glaucoma is a critical condition in paediatric ophthalmology, causing damage to the optic nerve and ganglion cells. The objective of the study was to assess the feasibility of ultrasonography screening in pregnant women for the early identification of probable congenital glaucoma in the fetus. Material and methods of the study. To achieve this, we conducted a comprehensive ultrasound examination of 500 pregnant women at the Republican Centre for Mother and Child Screening in 2022-2024. The article was prepared on the basis of the results of the planned dissertation research (Registration code B2023.3.DSc/Tib902; due dates: 2022 -2025). Results: Ultrasound scans of pregnant women provide important information for ophthalmologists. Ultrasound screening of pregnant women, monitoring the orbits and eyeballs of the fetuses, was performed from 20 to 40 weeks of gestation. Of the total, data were analysed for 2 (0.4%) cases of fetal eye pathology in which echographic indicators of glaucoma, known as buphthalmos, were identified. After birth, the suspected diagnosis of congenital glaucoma was confirmed in the children, requiring emergency hospitalisation and surgical intervention. This is particularly important in children with congenital glaucoma to prevent blindness and visual impairment in the future. Conclusions: This imaging could serve as a cost-effective and safe screening technique that provides important information to ophthalmologists. Comprehensive ultrasound assessment of embryonic ocular structures may provide significant information and identify congenital glaucoma in infants. Accurate diagnosis and verification of congenital glaucoma typically requires more specialised ophthalmological assessment postnatally.

The impact of traumatic brain injury on visual processing: a neuro-ophthalmological perspective.

Traumatic brain injury (TBI) is a critical global health issue characterized by perturbance in cerebral function attributed to mechanical force. TBI often precipitates significant visual impairment that negatively impacts the patients' quality of life. This review examines the effects of TBI on visual function from a neuro-ophthalmological perspective, focusing on the assessment, diagnostics, and management of associated sequelae. A comprehensive literature review was conducted using PubMed/MEDLINE, ScienceDirect, and Google Scholar to garner and collate relevant data. TBI may result in visual field defects, ocular motor dysfunction, insufficiency of accommodation, and photosensitivity. Early detection remains a profound challenge, partly due to a dearth of standardized protocols for evaluating visual impairment. Diagnostic methodologies include visual field testing, ocular motility assessments, and fundus photography, while rehabilitation approaches encompass vision therapy and low-vision rehabilitation. Establishing hospital-based multidisciplinary teams is essential for effectively addressing TBI-related visual impairment. Future research should prioritize evidence-based treatment protocols and explore diverse vision rehabilitation strategies through large-scale studies.

Pendular Nystagmus Presenting in Usher Syndrome Type I: A Case Report.

We describe a 42-year-old patient with reported "shaking" vision referred due to concerns of possible vestibular system dysfunction. The patient has known history of Usher syndrome type I, bilateral cochlear implants, and severe vision impairment. This case describes an unusual nystagmus previously only reported in individuals with central demyelinating disorders, significant light deprivation, or in congenital/early-onset visual pathway impairment. Case study. Retrospective chart review of vestibular function. Vestibular function was likely absent in this case. There was no evidence of vestibular (jerk) nystagmus for sinusoidal harmonic acceleration stimuli or repeatable responses for cervical vestibular evoked myogenic potentials. Significant pendular low-amplitude high-frequency oscillations of approximately 6 Hz were present for horizontal and vertical tracings throughout testing. Nystagmus may not always be associated with vestibular system impairment. In this case, the patient's reported "shaking" vision was attributed to pendular low-amplitude high-frequency nystagmus and hypothesized to relate to long-standing significant vision impairment. This presentation is unusual in adults and has historically been associated with individuals with significant central pathology or in those with long duration light deprivation.

Assessment of Affordances in the Home Environment and Neurodevelopment of Children With Congenital Zika Syndrome.

Congenital Zika syndrome (CZS) is characterized by brain abnormalities caused by in utero exposure to the Zika virus (ZIKV), resulting in significant neurodevelopmental, motor and visual impairments in affected children. These impairments hinder their ability to engage in social interactions and explore their surroundings. However, personalized and continuous sensory stimulation, particularly within the home environment, may play a crucial role in supporting motor and visual development in these children. Therefore, this study aimed to explore the relationship between sensory stimulation in the home environment and the motor and visual development of children with CZS. This cross-sectional study included children with CZS. The Affordances in the Home Environment for Motor Development (AHEMD) instrument was administered to caregivers to assess motor stimulation opportunities at home. All children underwent neurodevelopmental milestone assessments using the Brazilian Portuguese version of the Bayley Scales of Infant Development-Third Edition (BSID-III). Gross motor function was further assessed with the Gross Motor Function Measure (GMFM), and functional vision was evaluated by using the functional vision developmental milestones test (FVDMT). Eighty-five children with a mean age of 39.9 ± 2.3 (24.0-42.0) months were included. Forty-one children (48.2%) lived in homes with 'very weak' environmental stimulation. The children showed profound developmental delays in all domains of the BSID-III with an average neurodevelopmental age of 39.9 ± 2.3 (24-42) months. On the GMFM, over 90.0% of children could not initiate or maintain the required movements and postures for sitting, crawling, standing, walking, running and jumping. A significant positive correlation was found between the variety of home sensory stimulation with the AHEMD and the scores at the BSID-III motor scales as well as the GMFM. More fine motor materials in the home context correlated with better gross motor scores on the BSID-III (p = 0.016), increased likelihood of passing the 'sitting' (p = 0.041) and 'standing' (p = 0.019) items of the GMFM. Children with less visual impairment in parameters of the FVDMT ['eye contact' (p = 0.032), 'social smile' (p = 0.031) and 'movements to achieve' (p = 0.007)] had more stimulating home environment. Nearly half of the children with CZS who exhibited neurodevelopmental delays lived in homes lacking appropriate sensory stimulation. This study suggests that motor and visual development, including fine and gross motor skills as well as functional vision, may be benefited by the quantity and quality of play and stimulation opportunities available at home.

Comparison of different treatment options in submacular haemorrhage

Background/aimsSubmacular haemorrhages (SMH) cause significant visual impairment. Until now, the comparative effectiveness of different treatment approaches remains inconclusive without clear treatment guidelines. The aim of our study was to evaluate the effectiveness of 5 surgical treatment modalities in terms of visual prognosis and success rate.MethodsThis retrospective study included 201 patients with SMH. Primary endpoint was best corrected visual acuity (BCVA), secondary endpoints included haemorrhage size and complications. Group 1 was treated with pneumatic displacement and rtPA-injection. Group 2 followed the "Manchester protocol" with rtPA-injection and—if needed—a standardised secondary procedure with pars plana vitrectomy (ppV) and subretinal rtPA. Group 3 underwent vitrectomy with subretinal rtPA, group 4 vitrectomy only and group 5 received subretinal lavage.ResultsBaseline characteristics were a mean age of 79 years and a follow-up of 4.6 months. Pre-intervention BCVA of 1.7 logMAR improved to 1.4 logMAR at follow-up. A gain of > 0.2 logMAR was achieved in 47% of patients, while 20% lost > 0.2 logMAR. Only group 2 achieved a statistically significant visual gain. While group 5 was statistically larger in haemorrhage size preoperatively (p < 0.05), all groups were statistically equal in SMH size at follow-up. Complications led to additional interventions in 20% of patients.ConclusionsNo significant change in visual prognosis could be achieved depending on the intervention. As more invasive techniques seem to lack the benefit of a better postoperative prognosis while carrying higher risks, it may be beneficial considering a less invasive option first.

Case report: Primary infection of conjunctival histoplasmosis mimicking a large conjunctival neoplasm in an immunosuppressed patient

We report a rare case of a rapidly growing and large conjunctival histoplasmosis lesion in an immunosuppressed West African woman in her 80s, affecting her only eye. The patient had undergone a renal transplant and was on immunosuppressive medications. Additionally, she had previously been treated for presumed systemic histoplasmosis with itraconazole more than 5 years ago. Despite receiving previous treatment, she presented with a large conjunctival lesion, which was confirmed to be histoplasmosis after an excisional biopsy. The lesion was observed to grow over a 2-week period, causing significant visual impairment. Following a comprehensive systems review and investigation, the conjunctiva was identified as the sole site of infection. This case underscores the rarity of sight-threatening Histoplasma infections in the conjunctiva of an immunosuppressed individual. Conjunctival histoplasmosis lesions are rarely reported, with even fewer cases documented as primarily originating from this location.

Clinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.

Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center. A retrospective review of medical records was conducted for hospitalized patients diagnosed with ASD in the Eye & ENT Hospital, Fudan University between January 2013 and December 2022. Patients were enrolled consecutively. Demographic data, clinical manifestations, and UBM images of various ASD subtypes were analyzed. A total of 1,031 patients were included in the analysis. Primary congenital glaucoma (PCG) was the most prevalent, affecting 396 patients (625 eyes), whereas congenital ectropion uveae (CEU) was the rarest, affecting 8 patients (13 eyes). All subtypes exhibited a spectrum of characteristic clinical manifestations. UBM imaging revealed distinct anterior segment abnormalities characteristic of each subtype. Trabeculodysgenesis was implicated in glaucoma pathogenesis across multiple ASDs, including PCG, aniridia, Axenfeld-Rieger syndrome, Peters anomaly, CEU, iris coloboma, and microcornea, whereas persistent fetal vasculature and congenital fibrovascular pupillary membrane exhibited completely closed angles in glaucomatous eyes. Our study provides comprehensive insights into the clinical features and UBM characteristics of ASD subtypes, enhancing diagnostic accuracy and guiding appropriate interventions.

Visual outcome after monocular implantation of extended depth of focus intraocular lens in a patient with iridodialysis: a case report and literature review

BackgroundIridodialysis, the separation of the iris root from the ciliary body, typically results from trauma and can lead to significant visual impairment. This case report is novel as it demonstrates the successful management of iridodialysis using an extended depth of focus intraocular lens in a patient with a slightly irregular pupil.Case presentationA 34-year-old Hispanic man presented with reduced vision and pain in his right eye following blunt trauma from a nail at work. Examination revealed a small temporal corneal stromal scar, traumatic posterior subcapsular cataract, two inferior iridodialysis defects, and a superiorly displaced dyscoric oval pupil. Snellen uncorrected distance visual acuity was 20/400. The patient opted for an extended depth of focus intraocular lens implantation to meet his visual demands for distance and intermediate vision without glasses. Cataract surgery with capsular tension ring, extended depth of focus intraocular lens implantation, iridodialysis repair, and suture pupilloplasty were performed uneventfully. At 1 month postoperatively, uncorrected distance visual acuity improved to 20/40, while uncorrected intermediate visual acuity and uncorrected near visual acuity were 20/20. A central, relatively round, and slightly inferiorly peaked pupil was achieved. A steroid response intraocular pressure rise at postoperative month 2 required intraocular pressure-lowering medications, and symptomatic posterior capsular opacity developed at 8 months postoperatively. At 11 months postoperatively, selective laser trabeculoplasty and laser capsulotomy were performed. At 4-year follow-up, visual acuity measurements remained stable, and intraocular pressure was normal without any medication. The patient was satisfied with the visual and cosmetic outcomes.ConclusionThis case demonstrates that extended depth of focus intraocular lenses can be a viable option for patients with slightly irregular pupils following suture repair of the iris and pupil. The successful visual and cosmetic outcomes in this patient suggest that extended depth of focus intraocular lenses may be considered in similar complex cases, providing a balance of near, intermediate, and distance vision without significant visual disturbances.

Effects of MMP2 and its inhibitor TIMP2 on DNA damage, apoptosis and senescence of human lens epithelial cells induced by oxidative stress.

Oxidative stress-induced lens epithelial cells (LECs) death plays a pivotal role in pathogenesis of age-related cataract (ARC), causing significant visual impairment. Apoptosis of porcine granulosa cells mediated by MMP2 is linked to DNA damage. The current study aimed to investigate the potential mechanism of MMP2 in DNA damage, apoptosis and senescence of lens epithelial cells caused by oxidative stress. HLE-B3 cells were treated with different doses of H2O2 for 24h, and CCK-8 was used to detect cell viability. Furthermore, western blotting was used to detect the expressions of MMP2, Bcl2, Bax, cleaved caspase3, γ-H2AX, p16, p21, and TIMP2. DCFH-DA staining was used to assess ROS levels. Moreover, EdU staining was used to detect cell proliferation, and flow cytometry was used to detect cell apoptosis. Then, 15A3 immunofluorescence staining and γ-H2AX staining were used to detect DNA damage. In addition, SA-β-gal staining was used to observe cell senescence. The present findings suggest that oxidative stress triggers damage to LECs viability and elevates the expression of MMP2. Furthermore, MMP2 interference attenuates H2O2-induced active damage, apoptosis, DNA damage, and cellular senescence in LECs. Additionally, TIMP2 expression is down-regulated in H2O2-induced LECs, which suppresses the expression of MMP2 induced by H2O2. These findings highlight the crucial role of MMP2 and TIMP2 in the modulation of oxidative stress-induced cellular responses in LECs. Collectively, TIMP2 alleviates H2O2-induced lens epithelial cell viability damage, apoptosis, DNA damage and cell senescence in LECs by inhibiting MMP2.

Biomimetic Curcumin-Loaded Liposomes for the Treatment of Dry Eyes and Meibomian Gland Dysfunction: An In Vivo Study.

Background/Objectives: Meibomian gland dysfunction (MGD) and dry eye syndrome (DES) are common eye diseases characterized by altered tear film stability and inflammation of the ocular surface, causing significant discomfort and possible visual impairment. This study aimed to investigate the efficacy of curcumin-loaded liposomes (Lipo@Cur) compared to cyclosporine A-loaded liposomes (Lipo@CycA) in experimental rabbit models of MGD and DES, with a focus on their ability to improve tear film stability and reduce ocular surface inflammation. Methods: MGD and DES were induced using complete Freund's adjuvant (CFA) and treated to evaluate the effect of liposomal formulations on tear break-up time (TBUT), clinical signs of inflammation (telangiectasia, conjunctival hyperemia, meibomian foramen occlusion), and corneal as well as conjunctival histological cells. Results: Lipo@Cur increased TBUT and reduced the signs of ocular surface inflammation, potentially approaching the effectiveness of clinically approved cyclosporine A encapsulated in liposomes (Lipo@CycA). Histological analysis suggested improvements in corneal epithelial thickness and goblet cell density in the treated groups, which may indicate a reversal of DES-induced damage to the ocular surface. Conclusions: Plant-originated curcumin encapsulated in liposomes offers a promising therapeutic strategy for the management of MGD and DES that may improve patient outcomes by addressing the underlying inflammatory mechanisms of these conditions.

Delayed high-altitude retinal hemorrhages in well-acclimatized lowlanders: A hidden risk unveiled.

High-altitude retinal hemorrhage (HARH), a frequent entity of high-altitude retinopathy (HAR), is associated with acute exposure to high altitudes (HAs) with rapid ascent. However, the delayed occurrence of HARH in well-acclimatized individuals has received less attention. This study explored the prevalence and characteristics of HARH in individuals who were acclimatized to HA for extended periods, aiming to elucidate the physiological responses of the retina to chronic hypoxic conditions. We conducted an observational cross-sectional study involving 1,457 male participants who had resided at altitudes above 3353 meters (11,000 ft) in the Himalayan region for more than three months. Patients who had ocular or systemic diseases affecting the retina, chronic retinotoxic medication use or smoking were excluded. Participants underwent comprehensive ophthalmic examination, including the best corrected visual acuity test, dilated fundus examination and photography. A total of 1,457 males were screened, and the mean age was 34 ± 2 years. Of all the participants screened, 12 (0.82%) had HAR, with all cases occurring at altitudes above 4267 meters (14,000 ft). Seventy-five percent (75%) of the HAR patients had retinal hemorrhage and venous dilatation. Macular involvement and cotton wool spots were observed in 34% and 25% of HAR patients, respectively. Only four participants had foveal involvement with significant visual impairment. Delayed HARH in acclimatized individuals underscores the importance of long-term ocular monitoring for those exposed to HA, despite acclimatization, to prevent and manage potential visual impairments.

Nationwide usage of ethambutol and incidence and screening practices of optic neuropathy.

Ethambutol, a key anti-tuberculosis medication, is associated with optic neuropathy, which can lead to significant vision impairment. This population-based cohort study investigated the nationwide usage of ethambutol and the incidence and screening of optic neuropathy among ethambutol users. The cohort included 206,157 individuals from the Health Insurance Review and Assessment database in South Korea who initiated ethambutol therapy between 1 January 2015, and 31 December 2021. Among them, 117,309 individuals without prior ophthalmic diseases were analyzed to investigate practice patterns. The timing of the baseline examinations (an ophthalmic examination immediately preceding [within 1month] ethambutol initiation or the first ophthalmic assessment conducted after the initiation) and subsequent monitoring and modalities used were assessed. The cumulative incidences of the optic neuropathy categories, overall optic neuropathy, optic neuropathy/optic neuritis, and optic atrophy, were analyzed. The annual number of ethambutol users declined over time between 2015 and 2021. The cumulative incidences of overall optic neuropathy, optic neuropathy/optic neuritis, and optic atrophy were 2.8%, 2.0%, and 0.7%, respectively. Optical coherence tomography usage for ophthalmic examinations remarkably increased from 23.9% in 2015 to 85.5% in 2021, while visual field examinations were frequently (69.6%) employed for functional assessment at the time of diagnosis. Baseline screening within 6months of initiating ethambutol therapy was performed in 12.0%-13.1% of ethambutol initiators annually over the study period. The percentage of ethambutol initiators receiving subsequent monitoring within 6months following baseline screening declined over time, from 13.1% in 2015 to 7.9% in 2021. The diminishing trend in monitoring emphasizes the need for improved pharmacovigilance to reduce the risk of optic atrophy and blindness through early detection.

A Brief Review on Adult-Onset Coats' Disease.

Adult-onset Coats disease is an uncommon and vision-threatening disease characterized by the development of abnormal blood vessels in the retina. Coats' disease commonly affects children in the first decade of life, but very rarely manifests in adults after the third decade of life, or who characteristically present with unilateral vision loss. Despite being a sight-threatening disease, the etiology remains inconclusive and various genetic and vascular abnormalities are implicated. Diagnosis relies on ophthalmologic examination, fundus photography, fluorescein angiography, and optical coherence tomography. Treatment modalities include laser photocoagulation, intravitreal injections of anti-vascular endothelial growth factor agents, and, in advanced cases, surgical interventions are needed and the treatment is aimed at avoiding complications like retinal detachment and neovascular glaucoma, which were comparatively rare in adult-onset Coats' disease. Despite therapeutic advancements, the prognosis varies, with some patients experiencing significant visual impairment. This review outlines the clinical features, diagnosis, management, and prognosis of adult-onset Coats' disease, underscoring the importance of early detection and intervention in optimizing visual outcomes.

Juvenile Myopia: The Silent Vision Understanding, Preventing, and Managing Childhood Myopia

Juvenile myopia, a significant visual impairment characterized by blurred distance vision, is increasingly prevalent among Indian children. This review explores the multifactorial etiology of myopia, including genetic predisposition, environmental influences, and lifestyle factors such as prolonged near work and limited outdoor activities. The pathophysiology involves abnormal eye elongation driven by genetic and environmental factors, leading to refractive errors. Clinical manifestations include blurry distance vision, squinting, eye strain, and headaches, impacting academic performance and quality of life. Emphasis on early detection, parental awareness, and adherence to treatment protocols is crucial in controlling myopia progression and preventing long-term complications such as retinal detachment, myopic maculopathy, and glaucoma. This review underscores the need for comprehensive public health strategies to address the growing burden of juvenile myopia in India. Juvenile myopia is rapidly becoming a significant public health concern in India, with increasing prevalence driven by lifestyle changes, urbanization, and academic pressures. This systematic review aims to examine the prevalence, risk factors, and interventions for childhood myopia, with a focus on understanding the silent nature of this condition, identifying early prevention strategies, and outlining management techniques to curb its progression.

Managing neurofibromatosis type I and vision impairment in a resource-limited setting: a case study and multidisciplinary approach

Background: Neurofibromatosis type I (NF1) is a genetic disorder characterized by the development of multiple benign tumors along nerves in the skin, brain, and other parts of the body. It is associated with a range of clinical manifestations, including skin lesions, neurofibromas, and ocular abnormalities, which can significantly impact a patient’s quality of life. Management of NF1 is particularly challenging in resource-limited settings due to limited access to diagnostic and therapeutic resources. Clinical presentation: A 62-year-old woman with a known history of NF1 presented with progressive visual impairment. Her condition began in childhood with multiple hyperpigmented skin macules, which developed into numerous cutaneous tumors over time. Examination revealed numerous neurofibromas, café-au-lait spots, and axillary freckling. Significant visual impairment was caused by large fibromas on her eyelids. Histological analysis confirmed benign nerve tissue tumors. Clinical discussion: The management strategy in this resource-limited setting focused on regular monitoring, patient education, symptomatic treatment, and multidisciplinary care. Despite the limitations, the patient’s condition was managed effectively through these adapted strategies. The importance of genetic testing for confirmation and further management was noted but not performed due to resource constraints. Conclusion: This case highlights the complexities of managing NF1 in resource-limited settings, emphasizing the need for adaptable management approaches. Multidisciplinary care and patient education were crucial in improving the patient’s quality of life. This case underscores the importance of early diagnosis and intervention to prevent complications like visual impairment.

Feel the Rhythm: A Blind-Accessible Rhythm Game Showcasing a Novel Approach to Accessibility

Over the past few decades, video games have grown from a novelty of entertainment into one of the largest media industries in the world. For blind players or players with significant visual impairment, gaming is an activity which is largely out of reach, particularly for certain genres of game. The focus of this paper is one specific problem in games accessibility, which is the challenge of providing visually impaired players with access to the rhythm game genre. This paper presents a new game, titled Feel the Rhythm, in the rhythm genre developed with accessibility as a core design goal in order to implement novel blind-accessible features. The game serves as proof of concept for implementing solutions to this specific accessibility problem and presents the potential to allow visually impaired players access to a generally unavailable genre of games.

Refractive Error in Inherited Retinal Disease

PurposeInherited retinal dystrophies (IRDs) lead to significant vision impairment. Refractive errors (RE) are also associated with vision impairment and an increased risk of ocular comorbidities and may compound impairment caused by IRDs. Identifying the pattern of RE in IRDs may assist in the better management of patients with IRD and provide insights into understanding genetic associations with RE. The aim of this study was to investigate the patterns of RE in patients with IRD from three academic ophthalmology referral centers. DesignRetrospective tri-center cohort study. MethodsChart review of clinically and molecularly confirmed IRD cases seen at the University of California San Diego, Oregon Health & Science University, and Children's Hospital Los Angeles. Data retrieved included: demographics, disease phenotype, genotype, best-corrected visual acuity, objective, and/or subjective refraction. ResultsA total of 1942 patient notes were reviewed, of these 634 patients (1255 eyes) had refractive data. For genes associated with myopia, NYX (n=14 [1%]) was associated with the highest SER of myopia (mean -9.26 diopters (D) [95% CI -11.867, -6.651], P<0.001) followed by IMPG2 (n=16 [1.1%]) (mean -4.062 D [95% CI -6.254, -1.871], P=0.002), then RPGR (n=104 [7.2%]) (mean -2.664 D [95% CI [-3.618, -1.710], P=0.016) and for genes associated with hyperopia, BEST1 (n= 38 [2.6%]) had the highest SER for hyperopia (mean 2.996 D [95% CI 1.830, 4.162], P<0.001) followed by RS1 (n=26 [1.8%]) (mean 2.562 D [95% CI 1.454, 3.671], P<0.001), then CNGA3 (n=28 [1.9%]) (mean 0.603 D [(95% CI -0.48, 1.686]), P=0.009). Overall patients with IRD were significantly more myopic than age matched population controls. (n=eyes) ConclusionBy combining genetic testing with refraction data from a large cohort of patients, we identify IRD genes associated with myopia and hyperopia. However, we find that the pattern of ametropia varies widely not only by gene but also within a gene cohort. The genes identified to be associated with RE are candidates for further in-depth investigation to understand their functional role in RE.

Retinopathy and vision-related quality of life in blood dyscrasias.

To study the association of retinopathy with vision-related quality of life in patients with blood dyscrasias. A cross-sectional observational study was conducted at a university-based hospital. Two hundred patients with blood dyscrasias underwent comprehensive ocular examination, including dilated fundus examination. Vision-related quality of life was assessed using the National Eye Institute Visual Functioning Questionnaire-25 (NEI-VFQ-25). Retinopathy was observed in 99 out of 200 patients (49.50%) with blood dyscrasias. The most common retinal findings were venous tortuosity with dilation (31.70%), intraretinal hemorrhages (27.88%), soft exudates (12.50%), white-centered hemorrhages (12.50%), and arteriolar attenuation (12.50%). A significant association was found between retinopathy in blood dyscrasias and NEI-VFQ subscales of general vision (P value: 0.01**), near activities (P value: 0.04*), distance activities (P value: 0.01**), mental health (P value: 0.01**), color vision (P value: 0.01**), peripheral vision (P value: 0.01**), role difficulties (P value: 0.01**), and social functioning (P value: 0.01**). The study highlights the prevalence of retinopathy in blood dyscrasia patients and its detrimental impact on vision-related quality of life. Regular fundus examinations are imperative for early detection and management of retinopathy to prevent significant visual impairment. Further research is warranted to elucidate underlying mechanisms and improve clinical management strategies.

Visual and anatomical outcomes of pars plana vitrectomy for dropped intraocular lens: A Retrospective Study.

Background: Intraocular lens (IOL) dislocation is a serious cataract surgery complication that can cause significant visual impairment, often necessitating surgical intervention. Pars plana vitrectomy (PPV) has become the preferred method for treating dislocated IOLs, effectively managing both the lens and related vitreous issues. This study aims to assess the visual and anatomical outcomes of PPV in patients who experienced IOL dislocation following complicated phacoemulsification (PE). Methodology: A retrospective analysis was conducted at the Ophthalmology Department of Lahore General Hospital. The study included 51 patients (33 males, 18 females) aged 35 to 85 years who were referred after experiencing IOL dislocation post-complicated PE. Data were collected on the interval between PE and PPV, preoperative and postoperative visual acuity (VA), and complications. All patients underwent 23-gauge PPV, involving the removal and re-implantation of the IOL. Results: The average interval between cataract surgery and PPV was 14 days. All patients presented with aphakia and preoperative visual acuity at the counting finger (CF) level. PPV was successfully performed in all cases, with the dislocated IOL being completely freed from any residual vitreous adhesions. Postoperatively, 38 patients (74.51%) achieved a final best-corrected visual acuity (BCVA) between 20/20 and 20/50, while 12 patients (23.53%) attained BCVA ranging from 20/60 to 20/200. Visual acuity remained unchanged in 1 patient (1.96%) due to bullous keratopathy following anterior chamber (AC) IOL implantation. Conclusion: Pars plana vitrectomy for the removal of a dislocated IOL following complicated phacoemulsification yields excellent visual and anatomical outcomes with a low incidence of postoperative complications.