Analysis of novel heterozygous variations (p.C130fs) in the CRYGC gene of a family with congenital cataracts

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Objective: To review the medical records and genetic etiology of a family with congenital nuclear cataract. Method: A slit lamp photo was used to capture the characterization of the anterior segment. High throughput sequencing technology was applied to detect genetic eye disease related genes in the proband, screen for related variants, and Sanger sequencing method was used to verify mutation sites in the proband and family members, determining a new type of CRYGC gene mutation. Result: The second generation of this family is autosomal dominant inheritance, with clinical phenotypes of congenital nuclear cataracts and microphthalmia; The CRYGC gene test showed a new heterozygous mutation on chromosome 2q33.3 C130fs, mutation type is frameshift mutation. Conclusion: The CRYGC (p.C130fs) mutation is one of the pathogenic molecular basis for this congenital nuclear cataract family.

Research progress of iron metabolism pathway in retinal degenerative diseases

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Ferroptosis is a newly identified form of cell death distinguished by iron accumulation and lipid peroxidation. In the field of ophthalmology, research on ferroptosis is progressively expanding, particularly focusing on age-related macular degeneration, glaucoma, diabetic retinopathy, retinitis pigmentosa, and retinal degenerative diseases. The iron metabolism pathway is a primary mechanism for regulating iron homeostasis. Key proteins such as transferrin (TF), divalent metal transporter 1 (DMT1), ferritin (FT), and ferroportin 1 (FPN1) play critical roles in ferroptosis, which is implicated in retinal degenerative diseases. This article provides a review of the concept of ferroptosis, its relationship with the retina, the regulatory pathways of ferroptosis, and the key proteins involved in iron metabolism within retinal degenerative diseases.

Differential effects of primary disease and corneal vascularisation on corneal transplant rejection and survival

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Aims: To investigate the relative risk of pretransplant corneal vascularisation on rate of rejection and graft failure within 5 years of surgery when categorised by indication for transplantation. Methods: We analysed all adults recorded in the UK transplant registry who had a first cornea transplant for keratoconus (KC), pseudophakic bullous keratopathy (PBK) or previous infection (viral/bacterial/fungal/protozoan) between 1999 and 2017. We analysed the number of quadrants of the recipient cornea vascularised before transplant and type of vascularisation, the interval post- transplant to rejection, if any, and the outcome at 5 years post-transplant. Risk factors for rejection and transplant failure were modelled by multivariable risk-adjusted Cox regression. Results: Corneal vascularisation was recorded in 10%, 25% and 67% of patients with KC, PBK and infection, respectively. Individuals with PBK had an increased hazard of transplant rejection only when there were more than two quadrants of vascularisation (HR 1.5, p=0.004) when either superficial and/or deep vascularisation was present (HR 1.3 and 1.4, respectively, p=0.004). Individuals who had a transplant for previous infection had an increased hazard of rejection with four quadrants of vascularisation (HR 1.6, p=0.003). There was no risk-adjusted increase in transplant failure associated with vascularisation in any group. There was weak evidence of reduction in risk of rejection and/or failure associated with lamellar compared with penetrating transplantation in KC and PBK in vascularised recipient corneas. Conclusion: Vascularisation is a risk factor for corneal allograft rejection within 5 years. The indication for transplantation has a clinically significant effect on the magnitude of this risk.

Study on the Dynamic of Poor Vision of School aged Children in Karamay, Xinjiang and the Promotion Path of Sports Medicine Integration

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Objective To understand the current situation and changing trend of low vision among school aged children aged 6-12 in Karamay, Xinjiang, from 2016 to 2021, and provide direction and reference for the prevention and control of low vision. Methods The visual acuity monitoring data of 6~12 years old school children in Karamay urban area from 2016 to 2021 were collected randomly. The detection rate of low vision in different years, genders, nationalities and age groups in Karamay was analyzed systematically, and the comparison and trend analysis were carried out. Results From 2016 to 2021, the detection rate of low vision among school-age children in Karamay City was 30%, 21.8%, 21.4%, 34.4%, 36.4% and 34.3% respectively, showing an overall upward trend. The detection rate of low vision over the years was slightly higher in girls than in boys (P>0.05), and that of Han children was higher than that of minority children. Middle age group>low age group>high age group. The detection rate of low vision among students of different gender, nationality and age groups showed an upward trend (P<0.01), and the increase rate of girls (19.9%) was higher than that of boys (9.03%), the increase rate of minority children (25.4%) was higher than that of Han children (20.5%), and the increase rate of middle age children (21.8%) was higher than that of low age children (16.4%) and high age children (4.1%). Conclusion The detection rate of low vision in school age children in Karamay City has differences between ethnic groups and age groups, and shows a trend of low age development, focusing on the visual health of children after the age of 10; The rate of poor vision is on the rise. We should continue to strengthen screening, prevention and control to improve the visual health level of school-age children.

Research progress on infrared laser induced retinal damage

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Infrared laser induced fundus disease (laser induced fundus disease) is a fundus lesion caused by laser energy after infrared laser irradiation of the eye.With the advancement of science and technology, infrared laser is widely used in all walks of life, so the cases of infrared laser induced fundus disease are increasing year by year.Since infrared laser beams do not elicit a visual response, victims are often unaware of the exposure unless they experience eye symptoms, resulting in patients usually not seeking medical attention immediately after the injury.The current study shows that all patients with this disease have decreased visual acuity, and various manifestations such as hemorrhages in various layers of the retina, inner retinal defects, and strong reflections in the outer retina can be seen in the acute stage, and macular edema, macular precursor, and vitreous blood can be seen in the late follow-up.The article analyzes relevant studies on infrared laser-induced fundus injury at home and abroad in recent years, and gives a review of the clinical manifestations of infrared laser-induced fundus injury, the corresponding pathological changes in the fundus, and the progress of research on the treatment and prognosis of laser-induced fundus injury.

A case of macular damage caused by 808nm laser irradiation

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Laser induced macular disease (LIM) is a fundus lesion caused by laser energy after laser exposure to the eye.In the last decade of clinical work, there has been a dramatic increase in reported cases of laser-induced macular damage.In this article, we report a case of a 24-year-old male patient who was diagnosed with laser traumatic macular injury in the left eye after being irradiated by an 808 nm infrared laser in his left eye while performing an experiment, and he realized that he had blurred vision in his left eye within 1 week, and he was diagnosed with laser traumatic macular injury in his left eye after an ophthalmologic examination.After diagnosis, the patient was advised to take Mai Zhi Ling tablets (usage: 300mg orally twice a day), oral lutein, etc. At the follow-up examination 5 months later, the visual acuity of the left eye was 0.2, and there was no significant improvement in the visual acuity.The case was a macular injury caused by laser. When laser irradiation in the eye and transmitted to the retina through the refractive medium, it is mainly absorbed by the melanin of the retinal pigment epithelium (RPE) and the outer retina, resulting in damage to the fundus of the eye, with the macula being the most susceptible to damage, and the severity of the damage depends mainly on the intensity of the laser, the irradiation time, and the frequency of irradiation.The article reviews the course of the case and summarizes the clinical features and diagnosis and treatment of other cases of laser-induced macular damage reported in the literature.It aims to provide ophthalmologists with ideas for early diagnosis and treatment of such diseases.

Satisfaction Analysis and Promotion of Diversified Teaching Models in Clinical Noviciate Teaching of Ophthalmology

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Objective: To analyze the satisfaction of five-year undergraduate students in Central South University with ?clinical?noviciate?teaching?of?ophthalmology?which?combined?application?of?various?teaching?models and explore directions for promotion, in order to continuously improve the clinical?noviciate?course. Methods: Taking the five-year undergraduate students of Central South University as the object, we analyzed diversified teaching models in clinical noviciate teaching of ophthalmology?and?get?feedback?of?satisfaction?through?questionnaires. Results: The five-year undergraduate medical students were satisfied with teaching models and the practice effect of diversified teaching models in clinical noviciate teaching of ophthalmology. Conclusion: Diversified?teaching?models?help?solidify?the?specialty?knowledge?of?ophthalmology,but?still?need?to?reform?and?improve. Artificial Intelligence (AI) can be fully applied to empower ophthalmology practice teaching, and more attention should be paid to the integration of ideological and political education under this background to cultivate professional ophthalmologist in the new era.

Curriculum Ideology and Politics of Ophthalmology in the Artificial Intelligence Era: Opportunities, Challenges and Promotion

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In recent years, artificial intelligence (AI) has been widely spread in many fields including medical education, which has had a profound impact on the development of society. As an integral part of medical education, ophthalmology teaching requires ophthalmic knowledge training and moral education keeping pace with each other. Construction of curriculum ideology and politics is a critical part of medical education, and also an effective way to foster virtue and cultivating high-quality compound and innovative talents. How to integrate ideological and political teaching into ophthalmology courses in the AI era is an important task in the construction of the ideological and political education system of ophthalmology courses. Based on the current situation of ophthalmology teaching, we analyzed the opportunities and challenges faced by ideological and political education in ophthalmology courses under the background of AI, and explores multi-dimensional improvement methods, aiming to achieve the effective integration of modern ophthalmology courses and ideological and political education, and provide new ideas for cultivating professional ophthalmologist with humanistic spirit in the new era.

Curriculum Ideology and Politics of Ophthalmology in the Artificial Intelligence Era: Opportunities, Challenges and Promotion

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As an important feature In the present age, artificial intelligence (AI) had a profound impact on many fields, including medical education. As an integral part of medical education, ophthalmology teaching requires that ophthalmic knowledge training and moral education should be kept pace with each other. Fully promoting the construction of ideological and political courses is a strategic measure to implement the fundamental task of fostering virtue and cultivating high-quality, compound and innovative talents. How to integrate ideological and political teaching into ophthalmology courses in the AI era is an important task in the construction of the ideological and political education system of ophthalmology courses. Based on the current situation of ophthalmology teaching, we analyzed the opportunities and challenges faced by ideological and political education in ophthalmology courses under the background of AI, and explores multi-dimensional improvement methods, aiming to achieve the effective integration of modern ophthalmology courses and ideological and political education, and provide new ideas for cultivating professional ophthalmologist with humanistic spirit in the new era.
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  • 眼科学报

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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  • Eye Science

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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