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Two cases of congenital achorioidosis caused by new locus of CHM gene mutation

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Objective The aim of the research was to explore the clinical manifestations and gene mutation types of congenital choroideremia patients. It could broaden the understanding of rare hereditary eye diseases for clinical workers. Methods The clinical manifestations, imaging features and genetic analysis of these patients were retrospectively analyzed. Results The fundus manifestations of the patients were diffuse retinal atrophy, choroidal deficiency, white sclera exposed, pigment disorder, pale optic disc, C/D 0.3, and fundus blood vessels were thin and rigid. Genetic testing found there was CHM gene mutation in these patients. The main clinical manifestations were progressive loss of visual acuity with night blindness and severe visual field loss. Genetic test found that both patients with choroidosis had CHM gene mutation and the mutation sites had not been clinically reported. Conclusion The two patients were diagnosed with congenital choroidosis based on the medical history, clinical presentation and genetic testing results.

Analysis of the causes and treatment of ocular complications caused by retrobulbar injection

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Objective: To summarize and analyze the causes and management of ocular complications caused by retrobulbar injection. Methods: A retrospective case series study. Collect clinical data of 7 patients with ocular complications caused by retrobulbar injection in our department from August 2015 to August 2023. We analyzed the causes of complications in these cases, the intraoperative situation, and the postoperative follow-up results. Results: The average age of the 7 patients was 57.57 years old ±7.55 years old, including 5 males. There were 2 cases with high myopia. All the 7 patients were prepared for carrying out posterior surgery. Two patients suffered from retrobulbar bleeding, one patient suffered from transient amaurosis during surgery, two had postoperative temporary extraocular muscle paralysis, one experienced transient ptosis, and the most severe complication was globe puncture combined with massive subomental bleeding. During the surgery, omental incision and clearance of subretinal blood accumulation were performed. After active treatment, the prognosis of all patients was satisfactory. Conclusion: Retrobulbar injection can cause many complications, with a focus on prevention. Timely and appropriate treatment can reduce eye damage.

Research Progress of Vault and Size Selection of Posterior Chamber Phakic Intraocular Lens

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Implantable collamer lenses (ICL), as a method of myopia correction, can be used for the refractive correction of patients who are not suitable for corneal refractive surgery, and has the advantage of "reversibility", which is chosen by more and more clinicians and patients. This procedure has been chosen by more and more clinicians and patients because of its "reversibility" advantage. In this procedure, in addition to calculating the accuracy of the refractive correction, the selection of the appropriate size of ICL is crucial to obtaining the desired postoperative results, as most of the postoperative complications of this procedure are related to suboptimal ICL size. In this article, we present a systematic review of the current studies related to ICL size selection with the aim of contributing to the evaluation of postoperative safety.

Research Progress of Vault and Size Selection of Posterior Chamber Phakic Intraocular Lens

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Implantable collamer lenses (ICL), as a method of myopia correction, can be used for the refractive correction of patients who are not suitable for corneal refractive surgery, and has the advantage of "reversibility", which is chosen by more and more clinicians and patients. This procedure has been chosen by more and more clinicians and patients because of its "reversibility" advantage. In this procedure, in addition to calculating the accuracy of the refractive correction, the selection of the appropriate size of ICL is crucial to obtaining the desired postoperative results, as most of the postoperative complications of this procedure are related to suboptimal ICL size. In this article, we present a systematic review of the current studies related to ICL size selection with the aim of contributing to the evaluation of postoperative safety.

A case of macular damage caused by 808nm infrared laser irradiation

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A case of laser induced macular damage (LIM) caused by 808nm infrared laser irradiation is a retinal lesion caused by laser energy after laser irradiation of the eye. In the past decade of clinical work, there has been a sharp increase in reported cases of laser induced macular damage. This article reports a 24-year-old male patient who experienced blurred vision in the left eye within one week after being irradiated with an 808nm infrared laser during the experiment. The diagnosis was made through ophthalmic examination as laser induced macular injury in the left eye. After diagnosis, it is recommended that the patient take Maizhiling tablets (dosage: 300mg orally, twice a day) and lutein orally. After 5 months of follow-up, the left eye vision was 0.2, and there was no significant improvement in vision. This case is caused by laser induced macular damage. When the laser is irradiated on 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, leading to retinal damage. The macular area is the most vulnerable area to damage, and the severity of the damage mainly depends on the laser intensity, irradiation time, and irradiation frequency. The article reviews the progression of the disease in this case and summarizes the clinical characteristics and diagnosis and treatment of laser induced macular injury cases reported in other literature. Intended to provide ophthalmologists with early diagnosis and treatment strategies for this type of disease.

Corneal nerve and limbal stem cell:a review

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Cornea is a transparent tissue that serving as the main refractive element of the eye ball.Limbal epithelial stem cells(LESCs) resided in the basal epithelial layer of the Palisades of Vogt found in the corneal limbus that located between cornea and scleral are believed to be related to the continuously turning over of corneal epithelium. The proliferation, migration, and differentiation of the LESCs are modulated by unique physical and chemical futures contained in the microenvironment known as limbal niche, which composed of nerve terminals, cells, extracellular matrix, vasculature and signaling molecules.The niche in the limbal PV is the home for LESCs process such as proliferation, migration and differentiation. Corneal nerve terminals possess the special anatomy structures in the limbal PV and basal epithelial cells, and demonstrate pivotal biological effects in regulation of the LESC function and corneal epithelium homeostasis. The biological molecules such as neuropeptides, neurotransmitters and neurotrophic factors play pivotal role in modulating of LESCs phenotype that responsible for corneal epithelium homeostasis. This paper will review recent studies about how does these nerve derived molecules preform in this process, and make clear orientations for future researches.

Piggyback Implantable Collamer Lens Implantation for The Correction of Residual Refractive Errors after Cataract Surgery of An Individual with High Myopia: A Case Report

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Residual refractive error after cataract surgery often leads to unsatisfactory refractive and visual outcomes, thus affecting the postoperative vision and life quality of patients, which is an urgent problem to be solved in the development of refractive cataract surgery. This article reports a case of a 53-year-old male patient with high myopia who had implantable collamer lens (ICL) implantation in both eyes more than 20 years ago. Later, due to cataracts in both eyes, he underwent ICL explantation combined with phacoemulsification and intraocular lens implantation. However, residual refractive error led to anisometropia and caused discomfort in both eyes. After correction with piggyback ICL implantation, his vision acuity recovered satisfactorily. During follow-up, no severe complications such as intraocular lens opacity, elevated intraocular pressure or pupil obstruction were found.

Identification of novel drug targets for diabetic retinopathy: proteome-wide mendelian randomization and colocalization analyses

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Aims: To identify plasma proteins with causal links to diabetic retinopathy (DR) for potential therapeutic targets. Materials and methods: Summary statistics of plasma protein quantitative trait loci (pQTL) were derived from two extensive GWAS datasets and one systematic review, with over 100 thousand participants covering thousands of plasma proteins. DR data were sourced from the largest FinnGen study, comprising 10,413 DR cases and 30,863 European controls. Two-sample MR approach was utilized to investigate the causality of plasma proteins with DR, followed by bidirectional MR, Bayesian Co-localization analysis, and phenotype scanning to ensure robustness of the MR results. Druggability of the identified proteins were systematically evaluated. Results: Genetically predicted levels of 24 proteins were significantly associated with DR risk after multiple testing correction. For each standard deviation increase in plasm protein levels, the odds ratio (OR) for DR varied from 0.51 (95% CI: 0.36-0.73; P=2.22×10-5) for Tubulin Polymerization-Promoting Protein Family Member 3 (TPPP3) to 2.02 (95% CI: 1.44-2.83; P=5.01×10-5) for Olfactomedin like 3 (OLFML3). Four proteins exhibited strong co-localization evidence (PH4 ≥0.8): WARS, ACRBP, and ICAM1 were negatively associated with DR risk, while NOTCH2 showed a positive association. Drugability assessments highlighted these 24 proteins as potential DR targets, with two of them currently in phase I clinical trials. Conclusions: Twenty-four promising drug targets for DR were identified, including four plasma proteins with particularly promise. These findings offer new insights into DR's etiology and therapeutic targeting, exemplifying the value of genomic and proteomic data in drug target discovery.
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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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