Volume 61 · Issue 05 · 2025

This issue focuses on the research progress in the diagnosis and treatment of fundus diseases. The responsible editorial committee responsible for the planning, composition and review of this issue is Professor Wei Wenbin.

With the development of medical biotechnology, intraocular biological sample testing and genetic testing are increasingly applied in the diagnosis, treatment, and research of eye diseases. They help to quickly diagnose diseases, but also bring new problems to clinical work. This article summarizes and discusses the current situation, existing problems, and solutions of intraocular biological sample testing and genetic testing in China. It is emphasized that the clinical diagnosis is the key in ophthalmic practice, based on which criteria for intraocular biological sample testing and genetic testing need be established in a standardized manner, so as to reasonably leverage the advantages of the two tests and effectively promote the progress of ophthalmic diagnosis and treatment technology.

Fundus diseases have been among the major causes of blindness in China. Optical coherence tomography (OCT) is an important examination method for fundus diseases. However, there are ongoing challenges in the examination procedure, image interpretation and reporting, and application in screening fundus diseases. Based on research evidence and clinical experience, experts from the Chinese Vitreo-Retina Society of Chinese Medical Association, together with the Fundus Disease Group of Chinese Ophthalmologist Association and Ophthalmology Group of China Alliance for Rare Diseases/Beijing Society of Rare Disease Clinical Care and Accessibility, have developed consensus recommendations on the OCT procedures, quality control and use of images, OCT image characteristics of common fundus diseases, and image interpretation and reporting with a modified Delphi approach to provide guidance and reference for clinical management and scientific research of fundus diseases.

To investigate the clinical characteristics of abnormal vascular changes in the fundus of pediatric patients with congenital X-linked retinoschisis (XLRS).

This retrospective case series study included pediatric patients (age≤18 years) diagnosed with XLRS at Beijing Tongren Hospital, Capital Medical University between December 2017 and November 2024. All eyes underwent wide-angle fundus photography with some patients additionally receiving fundus fluorescein angiography (FFA). The prevalence and patterns of vascular abnormalities were analyzed, along with their correlations with clinical outcomes. Statistical analyses employed Fisher′s exact test, χ² test, or Mann-Whitney U test.

A total of 112 pediatric cases (218 eyes) were included, consisting of 110 right eyes and 108 left eyes. All patients were male, with a median age of 5.00 (4.00, 6.75) years (range: 9 months to 17 years). Abnormal vascular changes were detected in 139 eyes (63.8%) on fundus photography, including vascular sheathing (35.8%, 78/218), tortuosity (32.6%, 71/218), bridging vessels (29.4%, 64/218), exudation (9.2%, 20/218), and neovascularization (3.2%, 7/218). Among 85 FFA-evaluated eyes (44 patients), 96.5% (82/85) exhibited abnormalities, including nonperfusion areas (96.5%, 82/85), extra-macular leakage (94.1%, 80/85), and neovascularization (15.3%, 13/85). Vascular anomalies were observed in both schitic and non-schitic peripheral retina in 78.8% (67/85) of eyes, exclusively in schitic areas in 17.6% (15/85), and in non-schitic regions in 1.2% (1/85). One eye with exudative retinal detachment secondary to massive subretinal exudation achieved complete resolution following anti-VEGF therapy. Eyes with abnormal vascular changes demonstrated significantly higher rates of peripheral retinoschisis (100% vs. 58.2%), vitreous hemorrhage (33.1% vs. 7.6%), retinal detachment (24.5% vs. 6.3%) and tractional retinal detachment (20.1% vs. 2.5%) compared to unaffected eyes (all P<0.05). Worse median visual acuity was observed in eyes with peripheral retinoschisis [0.96 (0.70, 1.30) vs. 0.52 (0.46, 0.75)], vitreous hemorrhage [1.00 (0.70, 1.30) vs. 0.70 (0.52, 1.00)], retinal detachment [1.30 (1.00, 1.92) vs. 0.70 (0.52, 1.00)], abnormal vascular changes [1.00 (0.70, 1.30) vs. 0.70(0.52, 0.98)], vascular sheathing [1.00(0.70, 1.30) vs. 0.70(0.52, 1.00)], tortuous vessels [1.00 (0.70, 1.30) vs. 0.70 (0.52, 1.00)] compared to unaffected eyes (all P<0.05).

Pediatric XLRS patients exhibit diverse fundus vascular abnormalities, predominantly vascular sheathing, tortuosity, and bridging vessels. Eyes with vascular abnormalities demonstrate significantly higher complication rates and worse visual acuity.

To investigate the incidence and clinical features of retinopathy of prematurity (ROP) among preterm infants in a neonatal intensive care unit (NICU) of Lhasa, and to explore the screening criteria for ROP in high-altitude areas.

It was a single-center retrospective case study. A total of 166 preterm infants of Tibetan ethnicity admitted to the NICU of Lhasa People′s Hospital from May 1, 2020 to June 1, 2022 with a gestational age<36 weeks were enrolled. ROP was screened using the third-generation wide-angle digital pediatric retinal imaging system (RetCam Ⅲ). The ROP detection rate, staging, and zonal distribution were analyzed. Multivariate logistic regression was performed and risk factors for ROP in preterm infants were identified by calculating the odds ratio (OR) and its 95% confidence interval (95%CI).

There were 88 males and 78 females, among whom 33 patients (66 eyes) were diagnosed with ROP. The birth gestational age of ROP patients was 30 (29, 31) weeks, and the average birth weight was 1 188.5±219.2 g. The disease was at stage 1 in 48 eyes (72.7%), stage 2 in 16 eyes (24.2%), and stage 3 in 2 eyes (3.0%). Two eyes (3.0%) had zone Ⅰ disease, 26 eyes (39.4%) had zone Ⅱ disease, and 38 eyes (57.6%) had zone Ⅲ disease. Thirty ROP patients (90.9%) had spontaneous regression and vascularization. Three patients (9.1%) developed type Ⅰ ROP, which was treated by anti-VEGF therapy (1 patient) or spontaneously resolved during the follow-up (2 patients). Multiple logistic regression analysis showed that gestational age (OR=0.53, 95%CI: 0.33-0.84, P=0.007), birth weight (OR=0.95, 95%CI: 0.92-0.98, P<0.001), and duration of invasive mechanical ventilation (OR=1.42, 95%CI: 1.06-1.90, P=0.018) were influencing factors of ROP.

The detection rate of ROP among Tibetan preterm infants in the single-center neonatal intensive care unit in Lhasa was 19.9%, while the detection rate of type Ⅰ ROP was 1.8%. Preterm infants with shorter gestational age, lower birth weight, and prolonged invasive mechanical ventilation were liable to develop ROP.

To investigate the effect of polydatin on retinal ganglion cell (RGC) apoptosis induced by optic nerve injury.

It was an experimental research, conducted from October 2022 to December 2023. Retina-optic nerve explants from C57BL/6 mice were cultured in vitro to simulate optic nerve injury, and a computer-generated random number table was used for complete randomization, assigning the explants to the 0-day uncultured group (immediately detected after sampling), the model group (cultured for 1, 3 or 5 days to establish the injury model), and the polydatin group (with polydatin added throughout the intervention on the basis of the model group). The retinal tissues were collected, and the glial fibrillary acidic protein (GFAP), calcium ion binding protein 1 (Iba1), and ganglion cell marker Brn3a were detected by immunofluorescence staining. The effects of polydatin on the activation of astrocytes and microglia and RGC survival were observed. The expressions of GFAP, Vimentin, Iba1, B-lymphocytoma-2-associated X protein (Bax), lyzed C-caspase 3, and B-lymphocytoma-2 were detected by Western blotting. Real-time fluorescence quantitative PCR was used to detect the mRNA transcription levels of tumor necrosis factor-α (TNF-α), interleukin (IL)-6, and IL-10. One-way analysis of variance and LSD-t test were used for statistical analysis.

Immunofluorescence staining showed that compared with the model group, the polydatin group inhibited the activation of astrocytes and microglia and protected the RGCs. With explant culture for 1, 3, and 5 days, the expressions of GFAP (0.74±0.01, 0.70±0.04, 0.68±0.02), Vimentin (0.67±0.02, 1.91±0.09, 1.25±0.05), Iba1 (0.87±0.10, 2.36±0.13, 1.64±0.11), Bax (2.48±0.10, 0.37±0.02, 1.69±0.11), and C-caspase 3 (0.77±0.03, 2.49±0.09, 1.65±0.08) in the polydatin group were lower than those in the model group [GFAP (1.23±0.01, 1.17±0.01, 1.77±0.04), Vimentin (1.21±0.02, 2.67±0.06, 1.42±0.03), Iba1 (1.13±0.02, 3.51±0.07, 2.16±0.08), Bax (3.53±0.12, 1.27±0.06, 3.24±0.15), and C-caspase 3 (1.54±0.08, 3.38±0.17, 2.18±0.08)]. The expression of B-lymphocytoma-2 in the polydatin group (2.41±0.09, 1.67±0.07, 6.84±0.20) was higher than that in the model group (1.73±0.08, 0.96±0.07, 2.36±0.33). The differences were statistically significant (all P<0.05). In addition, the mRNA transcription levels of TNF-α (0.47±0.13, 12.07±0.56, 18.06±2.58) and IL-6 (0.55±0.12, 7.48±1.02, 41.35±7.08) in the polydatin group were lower than those in the model group [TNF-α (4.67±0.52, 26.62±2.62, 42.43±4.97) and IL-6 (1.21±0.06, 15.66±0.62, 67.46±3.78)]. The level of IL-10 (0.52±0.07, 2.98±0.24, 5.61±1.23) in the polydatin group was higher than that in the model group (0.06±0.03, 0.12±0.03, 2.64±0.74). The differences were statistically significant (all P<0.05).

Polydatin can inhibit the activation of glial cells and the expression of inflammatory factors induced by optic nerve injury, thus enhancing the survival of RGCs.

To compare the differences in peripheral retinal defocus values (RDVs) and wavefront aberrations between myopic and emmetropic eyes in children with unilateral myopic anisometropia, and to analyze the association between RDVs and wavefront aberrations.

The cross-sectional study consecutively enrolled patients aged 8 to 15 years, who were initially diagnosed as unilateral myopic anisometropia in the Department of Ophthalmology in Peking University Third Hospital from August 2023 to November 2024. Multispectral refraction topography was used to measure RDVs in the regions with eccentricity of 0° to <15° (RDV-15), 15° to <30° (RDV-30), and 30° to 45° (RDV-45), as well as in the superior (RDV-S), inferior (RDV-I), nasal (RDV-N), and temporal (RDV-T) directions under the mesopic condition at physiologic pupil sizes. A visual function analyzer was used to measure and calculate the higher order aberrations (HOAs), astigmatism (Z₂⁻², Z₂²), trefoil (Z₃⁻³, Z₃³), coma (Z₃⁻¹, Z₃¹), and spherical aberration (Z₄⁰) of the eyes and those arising from internal and corneal components within a pupil diameter of 4 mm.

There were 69 eligible patients (138 eyes), including 35 males (70 eyes) and 34 females (68 eyes). The age was (10.6±1.6) years. The myopic eyes showed higher RDV-30 [-0.06 (-0.19, 0.05) D], RDV-45 [0.01 (-0.34, 0.39) D], RDV-S [-0.75 (-1.16, -0.09) D], RDV-I [0.35 (-0.14, 0.95) D], RDV-T [-0.02 (-0.34, 0.40) D], and RDV-N [0.21 (-0.35, 0.88) D] values compared to the emmetropic eyes [-0.14 (-0.28, 0.00), -0.29 (-0.50, -0.02), -0.93 (-1.47, -0.39), -0.02 (-0.62, 0.54), -0.28 (-0.82, 0.04), -0.14 (-0.64, 0.20) D], with statistically significant differences (all P<0.05). The myopic eyes had lower ocular astigmatism Z₂^-2 [0.062 (0.032, 0.112) μm] and Z₂² [0.149 (0.085, 0.249) μm], corneal astigmatism Z₂² [0.276 (0.193, 0.389) μm], and internal ocular HOA [0.121 (0.088, 0.160) μm] values compared to the emmetropic eyes [0.078 (0.035, 0.151), 0.199 (0.098, 0.339), 0.327 (0.215, 0.501), 0.134 (0.088, 0.203) μm], with statistically significant differences (all P<0.05). The ocular spherical aberration Z₄⁰ [0.036 (0.017, 0.058) μm] was higher in myopic eyes than the emmetropic eyes [0.026 (0.009, 0.051) μm] (P<0.05). In myopic eyes, the spherical equivalent (SE) showed negative correlations with RDV-30 (r=-0.294), RDV-45 (r=-0.475), RDV-S (r=-0.253), and RDV-N (r=-0.471) (P<0.05). The ocular astigmatism Z₂² positively correlated with RDV-S (r=0.240) and RDV-N (r=0.273) (P<0.05). In the emmetropic eyes, the axial length positively correlated with RDV-15 (r=0.268, P<0.05), the ocular astigmatism Z₂² negatively correlated with RDV-15 (r=-0.335, P<0.05), and corneal astigmatism Z₂² positively correlated with RDV-S (r=0.254, P<0.05). The interocular SE differences negatively correlated with the RDV-30 (r=-0.388), RDV-45 (r=-0.469), RDV-I (r=-0.361), RDV-T (r=-0.328), and RDV-N (r=-0.337) differences (all P<0.05). The interocular axial length differences positively correlated with the RDV-30 (r=0.294), RDV-45 (r=0.463), RDV-I (r=0.312), RDV-T (r=0.293), and RDV-N (r=0.306) differences (P<0.05). The interocular RDV-15 differences positively correlated with the ocular spherical aberration Z₄⁰ differences (r=0.306, P<0.05) and negatively correlated with the ocular astigmatism Z₂² differences (r=-0.249, P<0.05).

In children with unilateral myopic anisometropia, the myopic defocus changed into hyperopic defocus in the region of 15° to 45°, which was associated with the degree of myopia. The increase of the RDV of 0° to 15° was correlated to the decrease of ocular astigmatism (Z₂²) and the increase of ocular spherical aberration (Z₄⁰).

To screen and validate key proteins involved in the progression of meibomian gland carcinoma (MGC) influenced by thrombospondin 1 (THBS1) overexpression through proteomic analysis.

It was an experimental study conducted from February 2023 to June 2024. After lentiviral transfection, MGC cells were divided into the THBS1 overexpression group and the control group. Proteins were extracted from both groups for 4D label-free quantitative proteomic analysis. Functional annotation of differentially expressed proteins (DEPs) and their regulated signaling pathways was performed via Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses. Real-time quantitative polymerase chain reaction (RT-qPCR) and Western blotting were used to validate the mRNA and protein expression levels of the top 5 DEPs.

Following successful THBS1 gene overexpression in MGC cells, 666 proteins were screened based on the criteria of |log₂(fold change)|>1.5 and P<0.05. GO analysis showed that DEPs were mainly localized in the cytosolic matrix and exosomes (cellular component), involved in RNA binding and cadherin binding (molecular function), and associated with translation and intracellular protein transport (biological process). KEGG pathway analysis indicated significant enrichment in DNA replication and cell cycle pathways. RT-qPCR results showed mRNA expression levels of asparagine-linked glycosylation 1 homolog (ALG1), AP2-associated protein kinase 1 (AAK1), Aladin WD repeat nucleoporin (AAAS), SUMO-specific peptidase 3 (SENP3), and Serrate RNA effector molecule homolog (SRRT) in the THBS1 overexpression group were 0.48±0.05, 0.83±0.04, 0.90±0.01, 0.73±0.06, and 0.92±0.02, respectively, significantly lower than those in the control group (1.00±0.03, 1.00±0.01, 1.00±0.03, 1.00±0.03, and 1.00±0.02; all P<0.05). Western blotting confirmed protein expression levels of ALG1, AAK1, AAAS, SENP3, and SRRT in the THBS1 overexpression group were 0.53±0.04, 0.86±0.04, 0.40±0.11, 0.59±0.01, and 0.63±0.05, respectively, significantly reduced compared with the control group (1.00±0.01, 1.00±0.03, 1.00±0.19, 1.00±0.14, and 1.00±0.01; all P<0.05).

Among the key proteins regulated by THBS1 overexpression in the MGC progression, the top 5 DEPs were ALG1, AAK1, AAAS, SENP3, and SRRT.

A 14-year-old female patient presented with progressive proptosis of the left eye for four months, accompanied by decreased vision and diplopia for one month. Imaging examinations showed relevant manifestations of the mass in the left orbit. Following a biopsy and left orbital mass resection under general anesthesia, histopathological and immunohistochemical examinations confirmed a diagnosis of left orbital angiomyxoma. At the four-month follow-up, the patient′s exophthalmos had significantly improved. However, imaging revealed that while the tumor had shrunk, a portion had invaded the left maxillary sinus. The patient′s parents opted for regular follow-up monitoring.

Surgeon introduction Tian Bei, MD, chief physician, professor, doctoral supervisor. National health science expert, corresponding editorial board member of Chinese Journal of Ophthalmology, standing committee member of Chinese Sports Rehabilitation Education College of Chinese Medical Association, member of Sports Medicine Branch of Chinese Medical Association, member of Optometry Group of Ophthalmologist Branch of Chinese Medical Doctors Association, standing committee member of Diabetes Professional Committee of Chinese Geriatric Health Care Association, member of Ophthalmology Professional Committee of Chinese Medical Equipment Association, member of Diabetes Ophthalmology Group of Diabetes Professional Committee of Chinese Research Hospital Association, vice chairman of the 13th Central Health and Wellness Committee of China Democratic League, honorary researcher of Royal Murphy Eye Hospital, UK, and member of British and Irish Vitreoretinal Surgery Association. He has been engaged in frontline clinical work of ophthalmology in Beijing Tongren Ophthalmology Center, Beijing Tongren Hospital affiliated to Capital Medical University for 28 years. He is good at vitrectomy, phacoemulsification and cataract aspiration, fundus laser surgery, etc. So far, he has more than 10,000 surgical experiences.

The patient was a 50-year-old male. Because of blurred vision in both eyes for 1 month, he went to the Department of Ophthalmology of Qingdao Municipal Hospital. Eye examination: the visual acuity of both eyes was 0.8, and the corrected visual acuity did not improve; No abnormalities were observed in the anterior segment of both eyes; Scattered and distributed yellow-white lesions of varying size, uniform texture and rounded shape can be seen around the vascular arch under the fundus of both eyes (A and B in Essence Picture 1); Coherence optical tomography angiography (en face blood flow diagram without vascular layer) examination: A large number of round-like nodular lesions with bright hyperreflective centers and dark edges were seen in the peripheral retina of both eyes (C and D in Quintessential Picture 1); Coherence light tomography examination: Multiple dome-shaped bulges of different sizes were seen under the pigment epithelial layer of the retinas around both eyes, with strong reflection of homogeneous signals inside and absence of photoreceptors on their surfaces (E and F in Quintessential Picture 1). Clinical diagnosis: soft drusen in both eyes.

Nanophthalmos is an uncommon developmental ocular disorder characterized by a diminutive eye resulting from impaired growth, which may occur sporadically or within familial contexts. Both environmental and genetic factors are implicated in the induction of nanophthalmos. The ocular biometric characteristics associated with nanophthalmos include reduced ocular axis, shallow anterior chamber, thickened scler and microcornea, which may lead to complications such as secondary uveal effusion syndrome and angle-closure glaucoma, as well as comorbidities like congenital cataract. Typically, the diagnosis of nanophthalmos is primarily reliant on the measurement of axial length via ultrasound. This review provides a comprehensive overview of the etiology, clinical manifestations, diagnostic criteria, and therapeutic approaches related to nanophthalmos.

At present, coherence light tomography (OCT) has become an important method for clinical examination and screening of fundus diseases, glaucoma and other optic nerve diseases. In order to further promote the standardized application of OCT in medical institutions at all levels, the Ophthalmology Group of Ophthalmology Branch of Chinese Medical Association, together with the Ophthalmology Group of Ophthalmologists Branch of Chinese Medical Doctors Association and the Ophthalmology Branch of China Rare Disease Alliance/Beijing Rare Disease Diagnosis, Treatment and Security Society, adopted the improved Delphi method to formulate the Expert Consensus on Delphi Method of Standardized OCT Operation and Image Reading Report in China (2025) (the Consensus). This paper expands the applicable population of fundus OCT examination, strengthens the important role of OCT in fundus disease screening, standardized operation is the basis for obtaining high-quality OCT images, accurate reading of OCT images is helpful to improve the level of clinical evaluation and scientific research analysis, and advocates the use of fundus OCT structured report and standardized terminology to better assist clinical diagnosis.