Review Article

The status quo and advances in categorization of congenital cataract

:50-61
 

Congenital cataract (CC) is one of the most common causes of pediatric visual impairment.As our understanding of CC's etiology, clinical manifestations, and pathogenic genes deepens,various CC categorization systems based on diferent classifcation criteria have been proposed.Regrettably, the application of the CC category in clinical practice and scientifc research is limited. It is challenging to obtain preciseinformation that could guide the timely treatment decision-making for pediatric cataract patients or predict their prognosis from a specificCC classification. This review aims to discuss the statusquo of CC categorization systems and the potential directions for future research in this field, focusingon categorization principles and scientificapplication in clinical practice.Additionally, it aims to propose the potential directions for future research in this domain.

Large-Scale Proteome-Wide Mendelian Randomization Identifies Novel Proteins for Glaucoma and Related Traits

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Purpose: To identify plasma proteins that are causally related to primary open-angle glaucoma (POAG) for potential therapeutic targeting. Methods: A two-sample MR analysis, supplemented by bidirectional MR, Bayesian co-localization analysis, and phenotype scanning, was conducted to examine the causal relationships between plasma proteins and POAG. The analysis was validated by identifying associations between plasma proteins and POAG-related traits, followed by a systematic evaluation of protein druggability. Results: Eighteen proteins were identified with significant associations with POAG risk after multiple comparison adjustments. The ORs per standard deviation increase in protein levels ranged from 0.39 (95% CI: 0.24–0.62; P = 7.70 × 10-5) for Phospholipase C gamma 1 (PLCG1) to 1.29 (95% CI: 1.16–1.44; P = 6.72 × 10-6) for Nidogen-1 (NID1). Five proteins (SEL1L, ROBO1, AXL, NID1, GFER) demonstrated strong genetic linkage to POAG. Further, validation analyses identified nine proteins causally related to POAG traits, with five (IL18R1, IL1R1, PLCG1, RNASE1, SPINK6) revealing consistent directional associations. In addition, 18 causal proteins were highlighted for their druggability, 5 of which are either approved drugs or under clinical trial. Conclusions: This study identifies 18 plasma proteins as potential therapeutic targets for POAG, particularly emphasizing the role of genomic and proteomic integration in drug discovery.
Original Article

Visual prognosis of vitrectomy for polypoidal choroidal vasculopathy with breakthrough vitreous hemorrhage

:39-49
 
Aim: The objective of this study was to investigate the prognosis of massive vitreous hemorrhage(VH) secondary to polypoidal choroidal vasculopathy(PCV) after vitrectomy. Methods: Forty-nineeyes in 48 patients with PCV and breakthrough VH who underwent 23-gauge pars plana vitrectomy between January 2015 and December 2020 were enrolled. The main outcome parameters were best-corrected visual acuity, postoperative adverse events, and reoperation. Results:The average follow-up time was 20.0±15.82 months. The average preoperative best-corrected visual acuity (BCVA) was 2.12±0.65 logarithm of the minimum angle of resolution (logMAR), the BCVA at six monthswas 1.65±0.64 logMAR, and the six-month follow-up BCVA was 1.67±0.76 logMAR. Compared to the average preoperative BCVA, the six-months and last follow-up BCVA after vitrectomy improved (P<0.05). The BCVAat the fnal follow-up was better than 1.3logMAR only in 14 eyes (28.6%). Postoperative complications were observed in 10 eyes (20.4%), including recurrent retinal detachment, recurrent vitreous hemorrhage, macular hole, hyphema and lens dislocation. Fourteen eyes(28.6%) underwent cataract surgery procedure an average of 10.16±5.14 months after vitrectomy. BCVAone week and three monthsafter cataract surgery improved compared toBCVAbefore cataract surgery (P<0.05). Hypertension was associated with BCVAsix months after vitrectomy (P=0.017). The BCVA at baseline and three months after PPV were worse in patients who underwent vitrectomy combined with silicone oil filling (P<0.05). Eyes with postoperative complications had worse BCVA at six months, 12 months, and at the final follow-up after PPV (P<0.05).The duration of VH is related to the BCVA12 months after PPV visual acuity after surgery. Patients who underwent vitrectomy within one month of the onset of vitreous hemorrhage had better BCVA 12 months after vitrectomy than those who underwent vitrectomy surgery one month later (P=0.015). Conclusions: Although the prognosis of vitrectomy varies greatly, cataract surgery could be considered to improve BCVAif polypoidal lesions are inactive six months after vitrectomy.
Original Article

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

:22-40
 

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 onesystematicreview, 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 308,633 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 the robustness of the MR results. Druggabilityand enrichment analysisof the identified proteins were systematically evaluated. 

Results:Genetically predicted levels of 24 proteins were significantly associated with DR risk after multiple testing corrections. 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 particular 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.

Visual prognosis of vitrectomy for polypoidal choroidal vasculopathy with breakthrough vitreous hemorrhage

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Abstract Aim: The objective of this study was to investigate the prognosis of massive vitreous hemorrhage (VH) secondary to polypoidal choroidal vasculopathy (PCV) after vitrectomy. Methods: Forty-nine eyes in 48 patients with PCV and breakthrough VH who underwent 23-gauge pars plana vitrectomy between January 2015 and December 2020 were enrolled. The main outcome parameters were best-corrected visual acuity, postoperative adverse events, and reoperation. Results: The average follow-up time was 20.0±15.82 months. The average preoperative best-corrected visual acuity (BCVA) was 2.12±0.65 logarithm of the minimum angle of resolution (logMAR), the BCVA at six months was 1.65±0.64 logMAR, and the six-month follow-up BCVA was 1.67±0.76 logMAR. Compared to the average preoperative BCVA, the six-months and last follow-up BCVA after vitrectomy improved (P<0.05). Postoperative complications were observed in 10 eyes (20.4%), including recurrent retinal detachment, recurrent vitreous hemorrhage, macular hole, hyphema and lens dislocation. Fourteen eyes (28.6%) underwent cataract surgery procedure an average of 10.16±5.14 months after vitrectomy. BCVA one week and three months after cataract surgery improved compared to BCVA before cataract surgery (P<0.05). Conclusions: Although the prognosis of vitrectomy varies greatly, cataract surgery could be considered to improve BCVA if polypoidal lesions are inactive six months after vitrectomy. Keywords: polypoidal choroidal vasculopathy; vitreous hemorrhage; vitrectomy; visual acuity

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.

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

:-
 
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.

The status quo and advances in categorization of congenital cataract

:-
 
Congenital cataract (CC) is one of the most common causes of pediatric visual impairment. With the in-depth understanding of the etiology, clinical manifestations and pathogenic genes of CC, various CC category systems based on different classification criteria have been proposed. However, the application of CC category in clinical practice and scientific research is limited. It is challenging to obtain accurate information from a certain category, including morphological, etiological and genetic information, that could guide timely treatment or predict the prognosis. The purpose of this review is to discuss the status quo of CC category systems and the potential direction for future research in this field, with a focus on categorization principles and scientific and clinical application.
Case Report

Transnasal endoscopic approach for orbital apical cavernous hemangiomas: a case report

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Abstract: Cavernous hemangioma is the most primary benign orbital tumor in adults, and majority of cases could be easily settled by surgical treatment. However, cavernous hemangioma lodged deep in the orbital apex remained a challenge because the surgery may pose a high risk of injury to the optic nerve and significant visual loss. This presentation would report a case of cavernous hemangioma located in orbital apex who presented superonasal and inferotemporal peripheral vision defect. The patient received fully transnasal endoscopic surgery, and a 2 cm × 1.5 cm tumor was successfully removed from the left orbital apex. The treatment results were satisfactory, with no after-effects and adverse reactions during follow-up. This case highlighted that transnasal endoscopic surgery is a promising technique for cavernous hemangiomas that are located deep in orbital apex. This approach provides direct pathway to tumor with limiting morbidity, maximal surgical field and ample illumination. The procedure represents a safe and less invasive management.

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    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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