To explore the clinical features of bilateral ocular toxocariasis (OT). In this case-series, the ocular characteristics and treatments of the patients diagnosed with bilateral OT from 2015 to 2024 were reviewed and analyzed. The influences of clinical manifestations on prognosis were evaluated. Ten patients aged 21 ± 15 years were included. In all the patients, the onset of the two eyes was asynchronous. The first-affected eyes (FAEs) had worse visual acuity than the second-affected eyes (SAEs) (paired t test, P = 0.024). Peripheral granulomas were observed in 16 eyes (FAE/SAE: 9/7), followed by posterior granulomas in 3 eyes (all FAEs). The peripheral granulomas in FAEs were longer than those in paired SAEs (6.38 ± 1.69 mm versus 5.29 ± 1.77 mm, P = 0.045). Cyclitic membrane, vitreous strand, epiretinal membrane, tractional retinal detachment and ciliary body detachment were observed in 10 (FAE/SAE: 5/5), 6 (FAE/SAE: 3/3), 12 (FAE/SAE: 7/5), 5 (FAE/SAE: 2/3) and 1(FAE) eye at baseline, respectively. The incidences of these lesions didn’t vary greatly from baseline to the latest visits except for an increased incidence of tractional retinal detachment (25

To evaluate the long-term outcomes of half-dose half-dose photodynamic therapy (PDT) in the treatment of bullous variant central serous chorioretinopathy (bvCSC). A retrospective single-center study of 18 patients, 31 eyes with bvCSC who received PDT between January 2012 and December 2021 with a minimum follow-up of 36 months. During follow-up, a dry macula was achieved in all cases and no recurrence was witnessed. The mean number of PDT treatments was 1.2 sessions. Twenty-five (80.6

PURPOSE:To characterise the clinical and multimodal imaging features of large solitary peripheral retinal capillary haemangiomas (RCHs) and identify risk factors for distinct macular complications. METHODS:In this cross-sectional study, eyes with a large (>1.5 mm) solitary peripheral RCH were included and stratified into three groups according to macular status: RCH with macular sparing (RCH-MS), with macular exudation (RCH-ME) and with macular traction (RCH-MT). Demographic, clinical and multimodal imaging data were collected and compared. Univariable and multivariable regression analyses were performed to assess risk factors. RESULTS:Among 69 eyes, 16 were classified as RCH-MS, 33 as RCH-ME and 20 as RCH-MT. Compared with RCH-MS, RCH-ME and RCH-MT exhibited significantly worse visual acuity. Multivariable analysis revealed that RCH-MT was associated with greater tumour-to-foveola distance (OR 1.347, 95% CI 1.024 to 1.771) and higher prevalence of fibrovascular proliferation overlying the RCH (OR 14.371, 95% CI 1.622 to 127.301). Feeding artery dilation was significantly associated with RCH-ME (OR 17.392, 95% CI 2.121 to 142.627) and worse visual acuity (β=0.374, 95% CI 0.023 to 0.724). Feeding artery beading was inversely associated with RCH-ME (OR 0.057, 95% CI 0.006 to 0.552) and correlated with better visual outcome (β=-0.472, 95% CI -0.894 to -0.051). CONCLUSIONS:The macular status of large solitary peripheral RCHs is influenced by tumour location, fibrovascular proliferation and feeding artery characteristics. These findings highlight the predictive value of multimodal imaging for macular involvement and visual outcomes and provide insights into the mechanisms underlying RCH-associated macular exudation and traction.

Abstract Background To compare the utility of single-capture ultra-widefield optical coherence tomography angiography (UWF-OCTA) and UWF-OCTA plus UWF colour fundus photography (UWF-CFP) versus UWF fluorescein angiography (UWF-FA) in detecting retinal capillary haemangiomas (RCHs) in von Hippel‒Lindau disease (VHL) and to explore the associations of RCH multimodal imaging features. Methods In this observational cross-sectional study, all enrolled eyes underwent single-capture UWF-OCTA (29 × 24 mm). RCHs suspected on UWF-CFP with eye-steering were further checked using regional UWF-OCTA scans. UWF-FA was used for comparison. Independent observers performed the RCH detection and characterisation using different imaging methods. The detection performance was compared, and logistic regression was used to identify the factors associated with leakage. Results Thirty-nine eyes of 21 patients with VHL were included in this study. At the eye level, UWF-OCTA plus UWF-CFP exhibited a similar performance to UWF-FA in detecting RCH involvement (87.2% vs. 89.7%, P = 0.319) and the median number of RCHs per eye (2 vs. 2, P = 0.252). However, the RCH involvement rate (61.5% vs. 89.7%, P < 0.001) and number of RCHs per eye (1 vs. 2, P = 0.003) were lower with single-capture UWF-OCTA than with UWF-FA. At the RCH level, UWF-OCTA plus UWF-CFP showed slightly lower detection rates than did UWF-FA, albeit without statistical significance (86.8% vs. 93.4%, P = 0.057). Single-capture UWF-OCTA detected significantly fewer RCHs than did UWF-FA (51.7% vs. 93.4%, P < 0.001). RCHs were classified according to OCTA B-scan characteristics. Types 1 (48.8%) and 2 (18.1%) RCHs exhibited a nodular appearance with protrusion into the vitreous cavity and compression of the outer retina, respectively. Type 3 RCHs (28.3%) displayed flat growth patterns, whereas type 4 RCHs (4.7%) breached the inner limiting membrane. Logistic regression revealed that RCH size > 0.5 mm was associated with hyperfluorescence with leakage (odds ratio [OR]: 10.987; 95% confidence interval [CI]: 1.747 to 69.090; P = 0.011), whereas type 3 RCH was associated with lower odds of leakage than type 1 (OR: 0.083; 95% CI: 0.026 to 0.267; P < 0.001). Conclusions A screening strategy integrating UWF-OCTA and UWF-CFP, instead of 150° single-capture UWF-OCTA alone, is reliable for non-invasive detection of RCHs in patients with VHL. OCTA-derived features, particularly the morphological subtype, may replace FA in assessing RCH activity and guiding the management of ocular VHL.

PURPOSE:To evaluate the association between the baseline morphologic stage of rhegmatogenous retinal detachment and postoperative visual acuity and metamorphopsia. METHODS:This retrospective study included 39 consecutive patients with primary fovea-off rhegmatogenous retinal detachment who underwent scleral buckling at the Eye and ENT Hospital of Fudan University between 2018 and 2023. Optical coherence tomography, best-corrected visual acuity, and M-CHARTS were assessed at baseline and at 1, 3, 6, and 12 months postoperatively. RESULTS:Baseline morphologic Stage was 1 and 2 in 41%, 3 in 21%, 4 in 15%, and 5 in 23% of patients. Advanced morphologic stage was associated with worse best-corrected visual acuity ( P = 0.001, 0.001, 0.008, 0.002, and 0.002) and greater M-CHARTS scores ( P = 0.033, 0.004, 0.001, 0.003, and 0.005) at baseline and at 1, 3, 6, and 12 months postoperatively, respectively. After adjusting for covariates, the partial correlation coefficients between best-corrected visual acuity at baseline and at 1, 3, 6, and 12 months postoperatively were significantly positive ( P = 0.001, 0.001, 0.002, and 0.005, respectively), as were the partial correlation coefficients between preoperative vertical M-CHARTS scores and scores at 1, 3, 6, and 12 months postoperatively ( P < 0.001, 0.001, 0.001, and 0.027, respectively). The M-CHART scores at 3, 6, and 12 months were significantly better in Stages 1, 2, and 3 versus Stage 4 ( P = 0.002, 0.003, and 0.002, respectively). CONCLUSION:Postoperative best-corrected visual acuity and metamorphopsia deteriorated significantly at all timepoints in patients with more advanced baseline morphologic stages, highlighting the need for earlier intervention in fovea-off rhegmatogenous retinal detachment.

PURPOSE:To evaluate large-sized human amniotic membrane (hAM) patch-assisted vitrectomy for managing postoperative proliferative vitreoretinopathy (PVR) in complex rhegmatogenous retinal detachment (RRD). METHODS:A retrospective analysis of 12 eyes (12 patients) with complex RRD and severe PVR undergoing large-sized hAM patch-assisted vitrectomy. Indications included open globe injury-associated RRD (n = 8) and RRD with PVR grade D (n = 4). Surgical procedures, clinical outcomes, and complications were documented. RESULTS:Patients were followed for 9.75 ± 1.60 months. Each eye received 2.75 ± 1.22 hAM patches (mean area: 3.37 ± 1.51 cm 2 ). Two eyes (Cases 1 and 2) with small and regular retinal defects achieved full hAM coverage and retinal reattachment without significant PVR. Ten eyes with extensive defects could not achieve complete coverage of the exposed retinal pigment epithelium. In five eyes (Cases 3-7), the hAM patches covered the most exposed retinal pigment epithelium and retinal edge, but PVR on hAM surface caused hAM-traction of retina, leading to recurrent detachment in three eyes. In the other five eyes (Cases 8-12), a hAM-retina gap was maintained and prevented retinal interference from hAM contraction. Visual acuity improved significantly from 2.40 ± 0.25 LogMAR (Snellen: 20/5,023) to 1.43 ± 0.60 LogMAR (Snellen: 20/533) ( P = 0.003). CONCLUSION:Human amniotic membrane patch-assisted vitrectomy is a promising strategy for managing complex RRD with advanced PVR. When complete coverage of the exposed retinal pigment epithelium is not feasible, maintaining a hAM-retina gap reduces postoperative traction and improves anatomical/functional outcomes.

To report two novel cases of retinitis pigmentosa (RP) associated with bilateral retinal astrocytic hamartomas (RAHs) and to conduct a systematic review of this rare association. Retrospective observational case series and literature review. We describe the clinical, multimodal imaging, and genetic findings of two male patients with genetically confirmed RP (RP2 and CDH23 mutations) and bilateral peripapillary RAHs. A comprehensive review of all previously reported cases of RP with RAH was performed to summarize demographic, clinical, and imaging characteristics. Both patients presented with advanced RP and characteristic mulberry-like, calcified lesions at the optic disc margins. Optical coherence tomography angiography (OCTA) demonstrated intrinsic vascularization within the lesions, a key feature distinguishing RAH from optic disc drusen. Systemic and genetic evaluations ruled out phakomatoses. Literature review identified 10 prior cases. Analysis of all 12 cases (including ours) revealed a strong male predominance (10:2), with RAHs typically being bilateral (9/12), peripapillary (11/12), and often multifocal (9/12). Follow-up data showed lesion progression in half of the cases. Genetic heterogeneity was noted, with our cases expanding the mutational spectrum to include RP2 and CDH23. RAH is a rare but important finding in RP, most commonly presenting as bilateral, peripapillary lesions in male patients. Multimodal imaging, particularly OCTA confirmation of intralesional flow, is crucial for accurate diagnosis and differentiation from drusen. Recognition of this association can prevent misdiagnosis and guide appropriate long-term monitoring for potential lesion progression.

To evaluate the clinical outcomes of symptomatic exudative retinal arterial macroaneurysms (RAMs) following anti-vascular endothelial growth factor (anti-VEGF) therapy. This retrospective study included treatment-naïve patients with exudative RAM who received anti-VEGF injections and were followed for ≥ 6 months. Clinical data and multimodal imaging findings, including optical coherence tomography angiography (OCTA), were analyzed. Thirty-seven eyes (37 patients) were included. The mean number of anti-VEGF injections was 2.4 ± 1.5 over a mean follow-up of 10.1 ± 4.3 months. BCVA, measured as the logarithm of the minimum angle of resolution (Snellen equivalent), improved significantly from 0.97 ± 0.42 (20/187) at baseline to 0.62 ± 0.36 (20/84) at the final visit (P < 0.001). CST decreased from 548.3 ± 180.4 μm to 285.8 ± 76.9 μm (P < 0.001). Baseline OCTA identified two morphologic types of RAMs: type 1 (distended, 68.3 What is new:

Purpose This study compared the efficacy and safety of intravitreal injection of conbercept with panretinal photocoagulation (PRP) and PRP alone in Chinese patients with proliferative diabetic retinopathy (PDR) without center-involved diabetic macular edema (CI-DME). Methods This multicenter, prospective, controlled study randomized patients with PDR without CI-DME (1:1) to receive a single conbercept intravitreal injection followed by PRP (combination group, n = 51) or PRP alone (PRP group, n = 59). Mild pre-retinal or vitreous hemorrhage was permitted but not required for enrollment. The primary outcome was the PRP completion rate at week 4. Secondary outcomes included the total number of PRP spots at week 4; best-corrected visual acuity (BCVA) and central subfield thickness (CST) changes from baseline to week 4, 12, 16, and 24; and treatment-related adverse events. Results Ninety-eight patients (89.1%) completed the study. Baseline demographics, ocular characteristics, and the presence of pre-retinal or vitreous hemorrhage were similar between the groups (all P > 0.05). The PRP completion rate at week 4 was 93.0% in the combination group, versus 76.4% in the PRP group (P = 0.03). Reasons for PRP incompletion included vitreous hemorrhage (VH) progression (4.7% vs. 18.2%, P = 0.04) and pars plana vitrectomy (PPV) because of severe VH (2.3% vs. 5.5%, P = 0.79). The combination group demonstrated a smaller number of total PRP spots than the PRP group at week 4 (1380.1 ± 137.9 vs. 1558.8 ± 264.7, P < 0.01). The combination group displayed a BCVA improvement (expressed as the logarithm of the minimum angle of resolution) of 0.06 ± 0.10 at 4 weeks, whereas the PRP group exhibited a deterioration of 0.03 ± 0.08 (P < 0.01). Similarly, for CST, the combination group displayed a reduction of 27.4 ± 27.5 μm at 4 weeks, versus an increase of 14.1 ± 27.2 μm in the PRP group (P < 0.01). However, the changes in BCVA and CST from baseline were not significantly different between the groups at 12, 16, and 24 weeks. No serious adverse effects were reported in either group. Conclusions Conbercept administered intravitreally 1 week prior to PRP helped improve the PRP completion rate and delayed VH progression. Its impact on long-term prognosis remains to be elucidated by future research. Trial Registration A prospective randomized controlled trial to compare the efficacy and safety of intravitreal injection of conbercept plus PRP versus PRP alone in Chinese patients with PDR without CI-DME (ChiCTR2200063637).

To characterize the multimodal imaging features of pachychoroid-associated choroidal ossification (PACO), a newly proposed entity, in eyes with pachychoroid diseases. This retrospective case series included 12 eyes in 11 patients with PACO and 14 age-matched eyes with choroidal osteoma as a control group. Lesions were characterized using multimodal fundus imaging, which included B-scan ultrasonography. The subfoveal choroidal thickness (SFCT) and the maximum choroidal vessel diameter (MCVD) were manually measured on optical coherence tomographic images. PACO lesions exhibited a hyperechoic appearance with posterior shadowing on B-scan ultrasonography. Distinct multimodal imaging features included tortuous vascular tufts on indocyanine green angiography and an abnormal vasculature within the lesion on optical coherence angiography. Among the 12 eyes, 7 eyes had ossified lesions at initial presentation, including 6 eyes with chronic central serous chorioretinopathy (CSC) and 1 eye with polypoidal choroidal vasculopathy, whereas PACO developed during follow - up in the remaining 5 eyes. In 3 eyes with CSC, PACO lesions developed on fibrin sites over microtears in the retinal pigment epithelium accompanied by dilation of the underlying choroidal vessels. PACO was more frequent in males (P = 0.023) and was characterized by a longer interval from symptom onset to presentation of PACO lesions (P = 0.004), shorter maximum tumor linear dimension (P = 0.004), decreased tumor thickness (P < 0.001), increased SFCT (P < 0.001), and larger MCVD (P < 0.001) compared with the control eyes with osteoma. During the mean follow-up period of 42.50 ± 44.35 months (range 3‒131 months), 10 lesions decreased in height but increased in length. New ossified lesions emerged in the contralateral eye in 2 patients. PACO is an acquired choroidal ossification secondary to pachychoroid diseases, distinct from choroidal osteoma and fibrosis. Despite the lack of histologic investigation, our findings may enhance our understanding and recognition of the pathophysiological mechanisms involved in choroidal ossification.

Diabetic retinopathy (DR) is a leading cause of visual impairment in working-age adults globally, characterized by chronic retinal inflammation and inner blood-retinal barrier (iBRB) disruption. Glutamate excitotoxicity and microglial activation are key pathogenic contributors, but the molecular links from these events to vascular damage remain unclear—particularly the role of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs), whose subunit composition (GluR1–4) regulates calcium permeability. Human vitreous humor and retinal tissues, streptozotocin-induced DR mice, high glucose (HG)-stimulated BV2 cells, mouse primary retinal microglia, and bEnd.3 endothelial cells were used. Glutamate levels, AMPAR subunit expression, microglial activation, calcium homeostasis, iBRB integrity and the potential mechanism were assessed via biochemical assays, immunofluorescence, transcriptomics, calcium imaging, Evans blue assays, western blot, and ELISA. Interventions included the AMPAR antagonists (perampanel and NASPM), and an IL-1β neutralizing antibody. Elevated glutamate levels were observed in the vitreous of DR patients, diabetic mouse retinas, and HG-treated BV2 cells. Critically, a consistent AMPAR subunit composition change (increased GluR1, decreased GluR2) was confirmed in human diabetic retinas, diabetic mouse retinas, HG-treated BV2 cells, and critically, in primary retinal microglia. This subunit change promoted the formation of calcium-permeable AMPARs, triggering downstream events including calcium overload, activation of the ATP/P2X7R/NLRP3 inflammasome pathway, and subsequent upregulation of IL-1β production. The direct link between AMPAR subunit remodeling, elevated intracellular calcium, and increased IL-1β was further substantiated in primary retinal microglia. Ultimately, this cascade impaired iBRB in vivo and enhanced pro-angiogenic responses in endothelial cells in vitro. Notably, both AMPAR inhibition and IL-1β neutralization effectively reversed these pathological changes. Our findings implicate microglial AMPAR subunit remodeling—favoring Ca²⁺-permeable configuration—as an early trigger of neurovascular inflammation in DR. Targeting the glutamate–AMPAR–P2X7R–IL‑1β cascade may offer a rational strategy to preserve iBRB integrity.

PURPOSE:To investigate the outcomes after silicone oil removal (SOR) in patients with acute retinal necrosis (ARN). METHODS:Retrospective case series. Patients diagnosed with ARN-associated retinal detachment (RD) who underwent vitrectomy and silicone oil tamponade and subsequent SOR between January 2013 and December 2021 who were followed up for ≥1 year after SOR were included. The medical records before and after SOR were reviewed. RESULTS:Fifty-three eyes from 52 patients were included. SOR was conducted at 201.3 ± 104.1 days (range, 63‒547) after vitrectomy. The duration of follow-up after SOR was 1266.8 ± 797.2 days (range, 384-3865). The logMAR BCVA before SOR, at 1 year after SOR, and at the last follow-up were 1.249 ± 0.816, 1.086 ± 0.791, and 1.488 ± 0.961. The intraocular pressure (IOP) at the corresponding times were 13.2 ± 3.6, 10.9 ± 3.4, and 10.4 ± 3.5 mmHg. Seven patients (13.5%) experienced recurrent RD at 81.0 ± 46.7 days (range, 18‒154) after SOR. At 1 year after SOR, 4 eyes (7.5%) had hypotony and 26 (49.1%) had macular edema; the corresponding numbers were 7 (13.5%) and 27 (51.9%) at the last follow-up. The IOP at the time of SOR (r =  -0.438, p = 0.001) was the risk factor for the occurrence of hypotony after SOR (area under the ROC curve: 0.873; cutoff value: 11.30 mmHg). CONCLUSION:The BCVA and IOP continued to change after SOR in ARN patients. Ocular complications mostly occurred within the first year after SOR. IOP at the time of SOR was a main predictor of the clinical outcomes after SOR.

Purpose:To present new clinical features of juxtapapillary retinal capillary hemangiomas (JRCHs), assess the risk of von Hippel-Lindau (VHL) disease, and explore the genotype-phenotype correlations in patients with JRCH. Methods:Fifty patients with JRCH were included. Multimodal retinal imaging including optical coherence tomography angiography (OCTA), visual acuity, presence of peripheral RCHs, affected lateralities, systemic evaluation for VHL disease, and underlying VHL variants were reviewed. Results:Of 59 eyes, 48 had classic JRCHs, whereas 11 had atypical JRCHs (type B, if it broke through the inner limiting membrane: 3 eyes; type A, if not: 8 eyes). Compared with atypical type A, which was indolent, type B might warrant surgical interventions. Better final visual acuity (P < 0.0001), fewer peripheral RCHs (P = 0.02), and lower prevalence of large peripheral RCHs (>1.5 mm) (P = 0.027) were observed in eyes with atypical JRCHs than classic JRCHs. VHL was diagnosed clinically in 72% of patients, and 22 VHL variants were identified, including 5 novel variants. Patients with truncating variants had a higher prevalence of atypical JRCHs than those with single amino acid substitution/deletion variants (P = 0.009). Patients with bilateral VHL-JRCHs were more likely to have large peripheral RCHs (P = 0.02) and less likely to harbor β-domain single amino acid substitution/deletion variants (P = 0.066) than those with unilateral VHL-JRCHs. Conclusions:Atypical JRCHs, with distinctive OCTA characteristics and favorable visual outcomes, are less complicated by peripheral RCHs and more relevant to truncating variant genotypes. JRCH monitoring should incorporate OCTA classification and genotype analysis.

To describe the prevalence and clinical characteristics of focal choroidal excavation (FCE) in a large cohort of Chinese patients with choroidal osteoma (CO). One hundred and thirty-two eyes of 110 Chinese patients diagnosed with CO were enrolled. The prevalence and clinical characteristics of FCE were studied. Univariate and multivariate linear regression analyses were used to identify the factors associated with the occurrence of FCE. Furthermore, FCEs were divided into two types based on their location: Type 1 (at the edge of the tumor) and Type 2 (inside the tumor), and their clinical features were analyzed. The prevalence of FCE was 46.2

BACKGROUND:Retinal degeneration is a leading cause of blindness worldwide. The induction of ferroptosis has been identified as an important mechanism contributing to the loss of photoreceptors in retinal degeneration. Lipocalin-2 (LCN2) exhibits iron-regulatory properties and may modulate cell viability in various diseases. However, the effects of LCN2 on ferroptosis in retinal degeneration remain unclear. METHODS:A light-induced injury model using 661W photoreceptor cells and a light-induced retinal degeneration male rat model were established. LCN2 protein expression was assessed by western blotting. The effects of LCN2 on ferroptosis in vitro were investigated by using recombinant LCN2 protein (rLCN2) and small-interfering RNA (siRNA) targeting LCN2 (siLCN2). Fe2+, malondialdehyde (MDA), tripeptide glutathione (GSH) levels, and the expression of ferroptosis-associated proteins (solute carrier family 7 member 11 [SLC7A11] and glutathione peroxidase-4 [GPX4]) were measured. A phosphokinase array and western blotting were performed to elucidate the mechanisms underlying LCN2-modulated photoreceptor ferroptosis. Additionally, the protective effects of LCN2 knockdown using adeno-associated virus (AAV)-expressing short hairpin RNA (shRNA) targeting LCN2 (AAV-shRNA-LCN2) on retinal structure and function in vivo were evaluated by hematoxylin and eosin staining and electroretinography. RESULTS:LCN2 expression was significantly upregulated following light exposure. Treatment with rLCN2 significantly induced ferroptosis in photoreceptor cells, as shown by decreased cell viability, increased Fe2+ levels, inhibition of SLC7A11 and GPX4 expression, depletion of GSH, and enhanced MDA levels, whereas siLCN2 protected against these effects. Exposure of photoreceptor cells to rLCN2 activated c-Jun N-terminal kinase (JNK), and administration of the JNK inhibitor SP600125 protected photoreceptor cells from ferroptosis. Lastly, AAV-shRNA-LCN2 administration inhibited light-induced ferroptosis in the retina, and protected the retinal structure and function in vivo. CONCLUSION:LCN2 is a key regulator of light-induced ferroptosis in photoreceptors by modulating the JNK pathway. Therefore, LCN2 presents a new target for the treatment of retinal degeneration.

Cystoid macular edema (CME) is a common complication in various retinal disorders, often leading to significant central vision impairment. However, the underlying genetic causes and detailed clinical features in patients with fluctuating CME remain unclear. This retrospective, observational case series analyzed two patients from a single family with fluctuating CME, focusing on both clinical and genetic aspects. Data were collected and analyzed from September 2022 to January 2023 at a single center. Comprehensive ocular examinations, including best-corrected visual acuity tests, color fundus photography, fundus fluorescein angiography (FFA), optical coherence tomography (OCT), visual field tests, flash electroretinography, multifocal electroretinography, and electrooculography, were performed. Genetic analysis was conducted using whole exome sequencing, with confirmation through Sanger sequencing and co-segregation analysis. The results identified two compound heterozygous variants in the MYO7A gene: c.562C>G p.Q188E and c.5929C>T p.R1977W in both patients. Fundus fluorescein angiography revealed cystoid hyperfluorescence in a petaloid pattern in the foveal area and a honeycomb pattern parafoveally. OCT showed that macular cystoid changes were primarily located in the outer nuclear layer (ONL), and full-field electroretinography indicated rod-cone dysfunction. Over a 108-day follow-up period, CME in both patients exhibited fluctuating changes without any treatment. This case series suggests that the identified MYO7A variants are likely associated with fluctuating CME, expanding the phenotypic spectrum of MYO7A and providing new insights into the mechanisms underlying CME. Identifying these MYO7A variants bridges genetic research with clinical diagnostics, potentially offering more precise and personalized treatment strategies for retinal disorders.