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Ophthalmology Research Articles

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3699 Articles

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  • Department Of Ophthalmology
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  • New
  • Research Article
  • 10.31288/oftalmolzh202557172
Пам'яті Світлани Федорівни Васильєвої
  • Oct 27, 2025
  • Oftalmologicheskii Zhurnal

Svitlana Fedorivna Vasylieva, a doctor of medical sciences, professor, and ophthalmic surgeon, passed away in Odessa on October 1, 2025, after a long illness. She was 94 years old. She dedicated over 40 years to working at the Odessa Institute of Eye Diseases and Tissue Therapy, named after Academician V.P. Filatov, now known as the State Institution “The Filatov Institute of Eye Diseases and Tissue Therapy of the National Academy of Medical Sciences of Ukraine.”

  • New
  • Research Article
  • 10.56367/oag-048-12103
Screen time and myopia: Options for children’s vision in a digital world
  • Oct 20, 2025
  • Open Access Government
  • Karen Hecht + 2 more

Screen time and myopia: Options for children’s vision in a digital world With mounting evidence linking screen time to myopic progression, interest is growing in developing behavioral and nutritional vision care strategies to promote long-term ocular health in the digital age. The surge in screen time among children has raised significant concerns about its impact on eye health, with over half of school-aged children experiencing symptoms of computer vision syndrome (CVS).[1]

  • Research Article
  • 10.7759/cureus.94014
A Study From Saudi Arabia: What Do Patients Value When Choosing an Ophthalmic Surgeon?
  • Oct 7, 2025
  • Cureus
  • Ibtisam Algouf + 6 more

A Study From Saudi Arabia: What Do Patients Value When Choosing an Ophthalmic Surgeon?

  • Research Article
  • 10.1186/s12960-025-01007-1
Assessment of human resource for eye health services in Southern Ethiopia
  • Oct 3, 2025
  • Human Resources for Health
  • Zelalem Mehari + 1 more

BackgroundHuman resources related to eye health are critical to significant reductions in blindness and low vision on a global and regional scale. Blindness and visual impairment affect the quality of life, poverty rates, and employment and educational opportunities of people with visual impairment. This study aimed to assess the availability and distribution of human resources for eye care to determine gaps in eliminating preventable and treatable blindness.MethodsThis study employed a descriptive cross-sectional design. Data were collected using a structured, self-administered questionnaire distributed electronically via the KoboToolbox platform. The survey targeted all government, private, and NGO/Mission eye care facilities across the two regions. The respondents were primarily heads or coordinators of eye care units; in cases of nonresponse, senior staff members were invited to complete the questionnaire. The tool gathered information on the type, number, and distribution of eye care professionals, as well as the services provided at each facility.ResultOut of the 77 public hospitals and 642 public health centers, only 39 (5.4%) provided eye care services. A total of 48 facilities were provided with eye care services, each of which served 388,765 people in the two regions. Thirty-nine (81.3%) were government owned, 5 (10.4%) were private for profit, and 4 (8.3%) were NGO/Mission owned. In these facilities, a total of 217 eye care professionals were practicing: 30 were ophthalmologists, 10 were cataract surgeons, 93 were optometrists, 62 were ophthalmic nurses, 6 were ophthalmic officers, one was a low vision specialist, and 15 were optical technicians. The only low vision specialist identified was an optometrist with additional training in low vision care. The mean number of cataract operations performed per unit per year was 860 (range: 30–2,800). The CSR of the SNNPR and Sidama regions was 1086 operations/million population/year in 2022. Among all the eye care centers in the study area, 50% provided cataract surgery services, 19% provided glaucoma surgery services, and 90% provided refraction services. Only one facility had panretinal photocoagulation (PRP) and intravitreal injection services. However, none of the facilities provided an in vitro retinal surgery service.ConclusionThe findings of this study indicate that the current human resource capacity for eye care in southern Ethiopia remains below the recommended thresholds outlined by the World Health Organization (WHO) and the IAPB Africa Strategic Plan. Furthermore, the distribution of eye care professionals is uneven, with the majority living in urban centers, whereas many rural areas remain critically underserved. These disparities suggest the need for more targeted workforce planning and support for rural deployment. However, these conclusions should be interpreted cautiously, given the study’s reliance on self-reported data and the absence of a standardized urban‒rural classification. Addressing the quantitative and geographic gaps in human resources for eye health will be essential for improving equitable access to services in the region.Supplementary InformationThe online version contains supplementary material available at 10.1186/s12960-025-01007-1.

  • Research Article
  • 10.1016/j.ajo.2025.06.018
Socioeconomic Determinants of Unmet Vision Care Needs and Gaps in Eye Examinations in Pediatric Populations From 2016 to 2022.
  • Oct 1, 2025
  • American journal of ophthalmology
  • Saara Khan + 2 more

Socioeconomic Determinants of Unmet Vision Care Needs and Gaps in Eye Examinations in Pediatric Populations From 2016 to 2022.

  • Research Article
  • 10.1016/j.zemedi.2025.10.001
In vivo corneal microscopy: from image to insight - where are we going?
  • Oct 1, 2025
  • Zeitschrift fur medizinische Physik
  • Karsten Sperlich + 5 more

In vivo corneal microscopy: from image to insight - where are we going?

  • Research Article
  • 10.1200/op.2025.21.10_suppl.105
Vision impairment and service utilization among cancer survivors and the general population in the US.
  • Oct 1, 2025
  • JCO Oncology Practice
  • Jincong Q Freeman + 7 more

105 Background: Cancer survivors face various health issues and require unique care and services. Vision health, an essential component of overall health and quality of life, has received little attention in cancer survivors. This study explored vision impairment and service utilization in cancer survivors and the general population without a cancer history in the US. Methods: We analyzed data from the 2023 National Health Interview Survey, which used stratified clustering sampling to interview US adults. Vision impairment was defined as difficulty seeing even when wearing glasses/contact lenses (GCLs) using a 4-point Likert scale: no difficulty, some difficulty, a lot of difficulty, and cannot see at all. Participants were asked 1) when they last had an eye exam and 2) whether a health professional had recommended vision assistive or adaptive devices (VAAD). They were also asked whether they had a separate plan covering vision services, used any VAAD, and wore prescription GCLs to read up close and see at a distance. We compared weighted percentages using Rao-Scott Chi-squared tests and computed the P -trend using the Cochran-Armitage test. Weighted logistic regression models were fit, adjusting for sociodemographic factors. Results: Of 29,484 adults (weighted sample: 257,928,581; mean age: 48 years), 9.7% were cancer survivors. Compared to the general population, a higher proportion of survivors reported some difficulty (22.0% [95% CI: 20.5-23.5%] vs 16.9% [95% CI: 16.3-17.6%]) and a lot of difficulty (2.7% [95% CI: 2.1-3.4%] vs 1.1% [95% CI: 1.0-1.3%]) ( P -trend < .001). Survivors were less likely to have a separate vision plan (24.9% [95% CI: 23.2-26.6%] vs 28.9% [95% CI: 28.1-29.8%]; P < .001) but more likely to have had an eye exam within the past year (59.0% [95% CI: 57.1-60.9%] vs 37.5% [95% CI: 36.6-38.3%]; P < .001) compared to the general population. A higher percentage of survivors utilized any VAAD than the general population (23.5% [95% CI: 20.4-26.5%] vs 14.2% [95% CI: 13.0-15.5%]; P < .001). Survivors had greater odds of having received professional recommendations for vision services (adjusted odds ratio [AOR] 1.45, 95% CI: 1.04-2.01) and needing prescription GCLs to read up close (AOR 1.16, 95% CI: 1.05-1.28) or see at a distance (AOR 1.10, 95% CI: 1.01-1.21). Additionally, Hispanic and Black adults had lower odds of having used vision services than White adults. Similar trends were observed in the subset of older (≥65 years) adults. Conclusions: Vision impairment was prevalent in US cancer survivors, highlighting the importance of screening, early intervention, and better services for vision impairment. Survivorship programs should identify and address vision health gaps and unmet care needs, specially to support the growing and aging population of cancer survivors. Future research can consider the impact of vision impairment and care disparities on cancer survivors’ health and quality of life.

  • Research Article
  • 10.71110/ajo791020251703547189
DRAINAGE SURGERY IN GLAUCOMA TREATMENT: PAST, PRESENT AND FUTURE (LITERATURE REVIEW)
  • Oct 1, 2025
  • Azerbaijan Journal of Ophthalmology
  • E.M Gasimov + 2 more

Currently, glaucoma continues to occupy one of the leading places among the causes of irreversible blindness, loss of ability to work and disability, thereby acquiring special social significance. At the same time, the trend of increasing incidence is global. Despite the entire arsenal of drug therapy and the improvement of antiglaucoma surgery methods, the search, development and implementation of new technologies that can provide a higher safety profile combined with maximum efficiency continue to arouse increased interest of ophthalmic surgeons. We analyzed relevant available publications for a 131-year period on the issue of modern methods of surgical treatment of glaucoma. This review is devoted to the topic of drainage devices widely used in clinical practice for glaucoma. Particular attention is paid to the actively developing technologies of drainage antiglaucoma surgery in the last decade as an alternative to traditional treatment for initial and advanced forms of glaucoma. The article considers the history of the use of drains, their classification, characteristics of models and methods of their implantation. The presented results of clinical studies on various aspects of the application of surgical methods using drainage devices not only clearly demonstrate their compliance with modern concepts in the treatment of glaucoma, but also dictate the expediency of expanding the indications for their use. There is no doubt that further research is needed for more advanced, pathogenetically substantiated technologies in order to minimize surgical trauma and achieve a stable hypotensive effect. However, we can confidently say that drainage surgery already today occupies a worthy place in the algorithm of modern glaucoma treatment. Key words: glaucoma, glaucoma drainage devices, Baerveldt implant, Ahmed valve, Molteno implant, PAUL implant

  • Research Article
  • 10.1016/j.compbiomed.2025.111021
Optimizing vision care: Dual path network model in eye disease classification.
  • Oct 1, 2025
  • Computers in biology and medicine
  • Raji Elsa Varghese + 5 more

Optimizing vision care: Dual path network model in eye disease classification.

  • Research Article
  • 10.32345/2664-4738.3.2025.09
MicroRNA-146a-5p EXPRESSION AT DIFFERENT STAGES OF DIABETIC RETINOPATHY IN PATIENTS WITH TYPE 2 DIABETES
  • Sep 30, 2025
  • Medical Science of Ukraine (MSU)
  • E.P Kiryan

Background. Studying new predictors of the development and progression of diabetic retinopathy (DR) in diabetes mellitus (DM), in particular the expression of microRNAs, is a relevant issue in modern clinical ophthalmology. Aim: to establish the diagnostic and prognostic significance of microRNA-146a-5p in the DR progression in patients with type 2 diabetes. Materials and methods. The study included 68 patients (68 eyes), 30 men (44%), 38 women (56%). The patients' age was 60.6±7.1 years, and the duration of diabetes was 6.3±5.3 years. The control group included 12 people (12 eyes) who did not have diabetes (DM0). Group 1 included 15 patients who had type 2 diabetes but no signs of DR were detected (DR0), group 2 included 15 patients with nonproliferative DR (NPDR), group 3 included 14 patients with preproliferative DR (PPDR), and group 4 included 12 patients with proliferative DR (PDR). The relative expression of miRNA-146a-5p was determined by real-time polymerase chain reaction (Thermo Fisher Scientific; USA). For statistical analysis, the EZR v.1.54 package (Austria) was used. Results. In patients with type 2 diabetes who did not have DR, the expression of miRNA-146a-5p was significantly reduced by 1.2 times compared to controls (DM0), in patients with NPDR – by 1.6 times, in patients with PPDR – by 2.9 times, and in patients with PDD – by 4.2 times (p<0.05). In pairwise comparisons of all groups, all differences were statistically significant, with the exception of PPDR vs PDD (p=0.10). Spearman correlation analysis showed a strong inverse relationship between miRNA-146a-5p and the duration of diabetes (ρ=-0.91; p<0.0001). Logistic regression analysis showed that decreased expression of miRNA-146a-5p was an independent predictor of the development of DR (p=0.005). Classification thresholds were established for the expression of miRNA-146a-5p: for diabetes it was 1.26 standard units; for – 0.95 standard units; for severe stages of DR (PPDR and PDR) – 0.71 standard units. Conclusion. For the first time, in patients with type 2 diabetes from the Ukrainian population, the diagnostic and prognostic significance of the miRNA-146a-5p expression level as a biomarker of the DR development and progression has been shown.

  • Research Article
  • 10.1097/opx.0000000000002300
Factors associated with eye examination within the past year among older home care clients: A cross-sectional register study
  • Sep 29, 2025
  • Optometry and Vision Science
  • Tiina Pesonen + 4 more

SIGNIFICANCE:International guidelines recommend that older adults undergo eye examinations every 1 to 2 years. Eye examinations can identify vision issues at an early stage, enabling timely intervention to prevent or manage impaired vision.PURPOSE:We explored the prevalence of older home care clients who had undergone an eye examination within the past year and the associated factors.METHODS:We used a cross-sectional register study design. The data were derived from the National Resident Assessment Instrument database, authorized by the Finnish Institute of Health and Welfare. We utilized data from home care clients who were aged 65 or older and had an assessment with the Resident Assessment Instrument conducted between April 1, 2022, and September 30, 2022 (n = 19,150). We used multivariate binary logistic regression to analyze factors associated with having an eye examination within the past year among home care clients.RESULTS:Twenty-six percent of Finnish home care clients had undergone an eye examination within the past year. Having an eye examination within the past year was significantly associated with female gender (odds ratio [OR] 1.12; 95% confidence interval [CI] 1.04–1.20), impaired vision, especially moderate or severe impairment (OR 3.01; 95% CI 2.70–3.36), and mild hearing impairment (OR 1.13; 95% CI 1.04–1.22). Limited physical function, both needing supervision or limited assistance in activities of daily living (OR 0.78; 95% CI 0.72–0.85) and needing extensive assistance (OR 0.60; 95% CI 0.53–0.67), and mild cognitive impairment (OR 0.86; 95% CI 0.80–0.92), as well as moderate or severe cognitive impairment (OR 0.66; 95% CI 0.59–0.74), were associated with lower odds of having an eye examination within the past year.CONCLUSIONS:A significant share of home care clients may not seek or may be unable to attend eye examinations at the recommended intervals due to various barriers, such as limited physical function and cognitive decline. The opportunity to participate in eye examinations may require targeted support services, such as assistance or transport services, or the development of innovative home-based vision care services. In addition, home care professionals’ awareness and competence regarding eye examination recommendations, available eye care services, and overall vision health should be strengthened.

  • Research Article
  • 10.1016/j.actbio.2025.09.028
Corneal stiffness mapping that accounts for anisotropic properties of corneal tissue.
  • Sep 19, 2025
  • Acta biomaterialia
  • Yuanwan Lou + 6 more

This study introduces Stress-Strain Index (ASSI) maps that quantify and visualize corneal stiffness while accounting for anisotropy driven by collagen fibril orientation. Our earlier efforts to produce SSI maps assume isotropy and overlook directional stiffness variations critical to accurate modelling and diagnosis. By integrating fibril distribution data with finite element modelling, ASSI maps were developed for both healthy and keratoconic corneas. Clinical case studies demonstrated the maps' ability to capture age-related changes, surgical impacts, and disease progression. ASSI maps enhance understanding of corneal biomechanics and provide a foundation for more precise, personalized interventions in ophthalmology. This innovation may support improved diagnostic sensitivity, optimized treatment planning, and more equitable care through accessible, in-vivo biomechanical mapping technologies. STATEMENT OF SIGNIFICANCE: •This study introduces a stiffness mapping technique that accounts for the anisotropic properties of corneal tissue and directly incorporates the influence of collagen fibril distribution on biomechanical behavior. •By integrating numerical modeling, microstructural characterization, and clinical data, the proposed method enables estimation of biomechanical changes following corneal surgery, and supports monitoring of keratoconus progression. •The technique offers a versatile platform for interdisciplinary research at the intersection of biomechanics and clinical ophthalmology, highlighting the role of engineering in advancing personalized medicine.

  • Research Article
  • 10.1016/j.jaapos.2025.104638
Post-pandemic changes in demographics and outcomes of children at an inner-city vision outreach program: Give Kids Sight Day.
  • Sep 18, 2025
  • Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
  • John E Williamson + 10 more

Post-pandemic changes in demographics and outcomes of children at an inner-city vision outreach program: Give Kids Sight Day.

  • Research Article
  • 10.3390/clinpract15090170
Harnessing Visual Neuroplasticity Through Auditory Biofeedback—Functional and Electrophysiological Gains Across Retinal, Optic-Nerve, and Cortical Visual Impairment: A Prospective Pilot Study
  • Sep 17, 2025
  • Clinics and Practice
  • Marco Zeppieri + 8 more

Background: This prospective pilot study included four participants with chronic visual impairment and assessed functional and electrophysiological recovery following visual evoked potential (VEP)-guided auditory biofeedback across diverse etiologies. Low vision affects more than two billion people worldwide and imposes a sustained personal and socioeconomic burden. Conventional rehabilitation emphasizes optical aids and environmental modification without directly stimulating the visual pathway. Emerging evidence indicates that auditory biofeedback based on real-time cortical activity can leverage adult neuroplasticity. Methods: Four men (mean age 58 ± 12 years) with chronic visual impairment attributable to occipital stroke, stage IV macular hole, end-stage open-angle glaucoma, or diabetic maculopathy completed ten 10-min monocular sessions with the Retimax Vision Trainer over three weeks (15 Hz pattern reversal, 90% contrast). Primary end points were best corrected visual acuity (BCVA, ETDRS letters) and P100 amplitude/latency. Fixation stability was recorded with MAIA microperimetry when feasible. A focused PubMed review (2010–2025) mapped current evidence and research gaps. Results: Median BCVA improved by seven letters (IQR 0–15); three of eight eyes gained ≥ 10 letters and none lost vision. Mean P100 amplitude increased from 1.0 ± 1.2 µV to 3.0 ± 1.1 µV, while latency shortened by 3.9 ms. Electrophysiological improvement paralleled behavioural gain irrespective of lesion site. No adverse events occurred. Conclusions: A concise course of VEP-guided auditory biofeedback produced concordant functional and neurophysiological gains across retinal, optic nerve, and cortical pathologies. These pilot data support integration of closed-loop biofeedback into routine low vision care and justify larger sham-controlled trials.

  • Research Article
  • 10.1016/j.jad.2025.120344
Asymmetric bidirectional associations of myopia with anxiety and depressive symptoms: Evidence from a one-year follow-up of 40,575 Chinese adolescents.
  • Sep 16, 2025
  • Journal of affective disorders
  • Yifan Zhang + 5 more

Asymmetric bidirectional associations of myopia with anxiety and depressive symptoms: Evidence from a one-year follow-up of 40,575 Chinese adolescents.

  • Research Article
  • 10.2147/opth.s544354
Implementation of a Modified Risk Stratification Score in Cataract Surgery at a Swiss Public Hospital
  • Sep 9, 2025
  • Clinical Ophthalmology (Auckland, N.Z.)
  • Klemens Paul Kaiser + 11 more

IntroductionThis study evaluates the impact of a modified risk stratification system on intraoperative complication rates in cataract surgeries conducted at a Swiss Public Hospital.MethodsIn this retrospective study cataract surgeries were analyzed before and after implementation of the Triemli Cataract Score (TCS) at a public referral hospital. The TCS was utilized to classify patients preoperatively based on their risk profile, categorizing cases into three levels of complexity: “routine”, “complex”, and “highly complex”. The primary endpoint is the frequency of intraoperative complications pre-/post-TCS implementation, as well as alignment with the designated risk groups.ResultsA total of 1776 eyes were included in the study, with 704 eyes (39.6%) assessed prior to and 1072 (60.4%) post-TCS implementation. Overall, intraoperative complications were observed in 146 surgeries (8.2%), with a higher incidence observed before (9.5%) compared to post-TCS (7.4%; p=0.054). Post-TCS, 625 (63.2%) were classified as “routine”, 250 eyes (25.3%) as “complex”, and 113 eyes (11.4%) as “highly complex”, based on their risk factors. The intraoperative complication rate varied significantly among these groups (p=0.014): the lowest rate was seen in the routine group (5.6%), followed by the highly complex group (8.8%), and the highest in the complex group (11.2%).DiscussionImplementing a risk stratification system for cataract surgery enables efficient and consistent preoperative categorization of patients into defined risk groups. This approach has the potential to reduce intraoperative complications, improve the comparability of study outcomes, streamline the classification process for surgeons, and establish structured checkpoints for training ophthalmic surgeons.

  • Research Article
  • 10.1038/s41378-025-01002-5
A soft micron accuracy robot design and clinical validation for retinal surgery
  • Sep 9, 2025
  • Microsystems & Nanoengineering
  • Yiqi Chen + 10 more

Retinal surgery is one of the most delicate and complex operations, which is close to or even beyond the physiological limitation of the human hand. Robots have demonstrated the ability to filter hand tremors and motion scaling which has a promising output in microsurgery. Here, we present a novel soft micron accuracy robot (SMAR) for retinal surgery and achieve a more precise and safer operation. A remote center of motion (RCM) parallelogram structure with a double spring adaptive balancing mechanism is designed and optimized to achieve precise motion and safer operation. The deviation from the expected trajectory with manual operation and robot-assisted operation is 143.06 μm ± 91.27 μm vs 26.39 μm ± 13.22 μm, which has been significantly improved}. We evaluated the safety performance of SMAR in live animals. Furthermore, preliminary human clinical trials showed that the robot-assisted has less drift compared to the manual operation with 41.07 μm ± 20.78 μm vs 299.66 μm ± 85.84 μm. The visual acuity with LogMAR of cases showed higher improvement in the robot-assisted group preliminary, which for manual of 0.78 ± 0.44 vs robot-assisted 1.24 ± 0.70 with no statistically significant difference. This study provides promising options for robot-assisted with very experienced surgeons in the most challenging microsurgery. The system has the potential to effectively reduce the training curve of doctors and alleviate the shortage of ophthalmic surgeons, which is very important for rural areas and underdeveloped countries.

  • Research Article
  • 10.1242/jcs.264339
First person – Abigail Moye
  • Sep 3, 2025
  • Journal of Cell Science

ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Journal of Cell Science, helping researchers promote themselves alongside their papers. Abigail Moye is first author on ‘ Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development’, published in JCS. Abigail conducted the research described in this article while a postdoc in Theodore Wensel's lab at Baylor College of Medicine, Houston, USA. She is now a postdoc in the lab of Carlo Rivolta at Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland, investigating molecular biology of tissue patterning and development in the eye, with specific interests in the ultrastructure, development and morphogenesis of the retina and surrounding epithelia, genetics of hereditary retinal dystrophies and complex conditions.

  • Research Article
  • 10.3389/fbioe.2025.1613417
Deep learning model using cross-sequence learning to identify orbital fractures in radiographs of patients under 20 Years
  • Sep 2, 2025
  • Frontiers in Bioengineering and Biotechnology
  • Joohui Kim + 7 more

Orbit fractures under 20 years are a medical emergency requiring urgent surgery with the gold standard modality being high-resolution CT. If radiography could be used to identify patients without fractures, the number of unnecessary CT scans could be reduced. The purpose of this study was to develop and validate a deep learning-based multi-input model with a novel cross-sequence learning method, which outperforms the conventional single-input models, to detect orbital fractures on radiographs of young patients. Development datasets for this retrospective study were acquired from two hospitals (n = 904 and n = 910). The datasets included patients with facial trauma who underwent orbital rim view and CT. The development dataset was split into training, tuning, and internal test sets in 7:1:2 ratios. A radiology resident, pediatric radiologist, and ophthalmic surgeon participated in a two-session observer study examining an internal test set, with or without model assistance. The area under the receiver operating characteristic curve (AUROC), sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and 95% confidence intervals (CIs) were obtained. Our proposed model detected orbital fractures with an AUROC of 0.802. The sensitivity, specificity, PPV, and NPV of the model achieved 65.8, 86.5, 70.9, and 83.5%, respectively. With model assistance, all values for orbital fracture detection improved for the ophthalmic surgeon, with a statistically significant difference in specificity (P < 0.001). For the radiology resident, specificity exhibited significant improvement with model assistance (P < 0.001). Our proposed model was able to identify orbital fractures on radiographs, reducing unnecessary CT scans and radiation exposure.

  • Research Article
  • 10.1177/27550834251371501
Survey of genetic testing, community involvement, and vision care in Albinism
  • Sep 1, 2025
  • The Journal of Medicine Access
  • Polina Prokhoda + 1 more

Background:Previous studies from Brazil and West Africa have shown that patients with albinism can feel stigmatized and isolated, highlighting the importance of access to healthcare and support in improving their quality of life. Studies in the United States are lacking.Objectives:Our study aims to understand gaps in access to genetic testing, vision care, and community resources for patients with albinism.Design:A survey was distributed on the National Organization for Albinism and Hypopigmentation (NOAH) website and during in-person research sessions at the Medical College of Wisconsin or emailed to previous research participants.Methods:Multiple choice and open-ended questions were aimed at assessing access to resources, genetic testing, and vision health. The data were de-identified and analyzed.Results:A total of 47 responses were received between June 2022 and April 2023. Around 62% were based on self and 38% based on child; 66% of participants were women, 32% men, and 2% transgender. There was a wide distribution of age, location, household income, and education level. Almost 85% of participants had medical insurance, including 15% Medicare/Medicaid. Around 64% had genetic testing done, of those 40% had to travel an average of 459 miles (5–1700 miles, Mdn: 150 miles, M: 459 miles) to access it. About 34% felt their questions about albinism were not fully answered, for reasons such as questions not answered by their physician, using a 23&me kit, not seeing a genetic counselor, or genetic results that were inconclusive. Almost 83% felt they had good understanding of their visual health. Around 60% were aware of community resources related to improving quality of life related to visual health, but only 45% utilized them.Conclusion:While access to eye doctors is adequate in our surveyed population, access to genetic testing could be strengthened and awareness of community resources could be improved upon. This could be facilitated by eye doctors and primary care physicians.

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