Search Results (138)

Background: This study investigated the clinical timeline, patient monitoring behaviors, and cumulative bilateral treatment burden in patients with bilateral neovascular age-related macular degeneration. Methods: We retrospectively analyzed follow-up patterns and treatment intensity from first-eye (FE) diagnosis to second-eye (SE) conversion. Results: SE conversion occurred within a mean of 2.0 years in the FE-active group (62.5%) while the FE remained exudative, contrasting with 6.2 years in the FE-inactive group (37.5%). Upon SE conversion, the total annual intravitreal injection burden escalated 3.4-fold (p = 0.002). Notably, the FE-inactive group exhibited numerically lower annual outpatient visit counts (4.40 ± 2.71 vs. 10.29 ± 5.02; p = 0.116), which potentially widened the monitoring window. Additionally, baseline SE retinal pigment epithelium (RPE) abnormalities independently predicted progression (aOR: 19.04; p = 0.032). Conclusions: While previous literature focuses on individual eyes, our findings highlight a vigilance gap in SE detection based on FE status. Clinicians must maintain proactive surveillance for patients with baseline SE RPE abnormalities, particularly when FE stability or next-generation long-acting therapies extend clinic intervals. Due to the limited sample size, these preliminary findings warrant validation in larger prospective cohorts. Full article

Background: Retinal and optic nerve disorders remain major causes of visual morbidity worldwide. Ocular fundus flavoprotein fluorescence (FPF) imaging has emerged as a potential noninvasive biomarker of mitochondrial dysfunction for earlier detection and evaluation of disease severity. Methods: We conducted a Systematic Scoping Review of the diagnostic and correlational utility of quantitative FPF parameters in retinal and optic nerve diseases compared with healthy controls. Following PRISMA-ScR guidelines, we searched MEDLINE, Web of Science, Scopus, and CENTRAL for peer-reviewed human studies available online before 31 December 2025. Results: Seventeen studies were included, encompassing 1914 eyes and 1339 participants, and were predominantly cross-sectional. In healthy eyes, mean macular and optic nerve head FPF intensity were reported as 24.1 ± 12.2 gsu and 30.6 ± 14.6 gsu, respectively. Higher signals were reported in several disorders, including diabetes mellitus (76.0 [67.0–92.0] gsu), neovascular age-related macular degeneration (67.47 ± 17.77 gsu), and retinitis pigmentosa (50.5 ± 12.2 gsu). However, lower, unchanged, or stage-dependent signals were also observed within the same disease categories. Interpretation across studies was limited by substantial heterogeneity in patient selection, disease definitions, imaging protocols, control groups, and FPF outcome metrics. The precise cellular and sublayer origin of the detected signal also remains challenging to determine. Conclusions: Ocular fundus FPF imaging provides promising metabolic insight into retinal and optic nerve diseases. However, current evidence remains heterogeneous and largely cross-sectional, limiting clinical interpretability and generalizability. Longitudinal studies, technical standardization, and multimodal integration are needed to define reproducible disease-specific FPF profiles and improve translational applicability. Full article

Vascular endothelial growth factor (VEGF)-driven pathological angiogenesis constitutes a primary driver of neovascular diseases, including neovascular age-related macular degeneration (nAMD) and diabetic retinopathy (DR). Although anti-VEGF agents demonstrate clinical efficacy, their limited intraocular half-life mandates repeated intravitreal injections, thereby highlighting the imperative for long-term therapeutic strategies. In the present study, we assessed the anti-angiogenic potential of retinal organoid-derived microRNAs (miRNA) delivered via an engineered adeno-associated virus vector. Human umbilical vein endothelial cells (HUVEC) were transduced with AAV2.7m8 vectors to overexpress three candidate miRNA (miR-26a, miR-122, and let-7a), followed by VEGF stimulation to evaluate downstream signaling pathways and angiogenic responses. AAV2.7m8-mediated transduction of HUVEC demonstrated high efficiency without inducing detectable cytotoxicity. Overexpression of these miRNA markedly attenuated VEGF-induced phosphorylation of extracellular signal-regulated kinase (ERK), c-Jun N-terminal kinase (JNK), and p38 MAPK. Functional assays demonstrated suppression of endothelial cell proliferation and cell cycle progression, with miR-122-5p additionally inhibiting migration. All three miRNA substantially inhibited capillary-like tube formation. In aggregate, these results affirm that AAV2.7m8-mediated delivery of retinal organoid-derived miRNA —namely miR-26a-5p, miR-122-5p, and let-7a-5p—markedly suppresses VEGF-induced angiogenic signaling cascades and endothelial cell activation in vitro, thereby establishing their viability as a sustained therapeutic approach for pathological retinal neovascularization. Full article

Background and Objectives: Chemotherapeutic agents are known to disrupt wound healing; however, the influence of administration timing on skin graft repair remains insufficiently characterized. This study aimed to investigate the time-dependent effects of vinblastine exposure on full-thickness skin graft healing in a rat model. Materials and Methods: Twenty-four female Wistar albino rats were allocated into four groups (n = 6). The control group underwent grafting without pharmacologic intervention, whereas the experimental groups received a single intraperitoneal dose of vinblastine (2 mg/kg), followed by grafting in the first week, second week and third week after administration. Graft specimens were harvested on postoperative day 7 for histopathological evaluation performed by a blinded pathologist. Hematoxylin-eosin-stained sections were scored for inflammation, granulation tissue formation, fibroblast maturation, collagen deposition, re-epithelialization, and neovascularization. Intergroup comparisons were conducted using the Kruskal–Wallis test with Dunn–Bonferroni post hoc analysis. Results: Vinblastine exposure produced significant time-dependent differences in several healing parameters. Fibroblast maturation was markedly reduced in the second-week graft group compared with controls (p < 0.001). Re-epithelialization was significantly delayed in the second- and third-week groups (p = 0.033). Granulation tissue formation differed between groups (p = 0.014), with higher early scores observed in the first-week group. Notably, neovascularization was significantly greater in the third-week group than in the control and second-week groups (p = 0.010), suggesting partial recovery of angiogenic activity over time. No significant differences were detected in inflammation or collagen deposition. Conclusions: Vinblastine exposure appears to exert time-dependent effects on skin graft healing, with the second week representing a period of less favorable histopathological repair. Partial recovery observed with later grafting suggests that the interval between chemotherapeutic exposure and reconstructive procedures may influence graft outcomes and support improved surgical planning. Full article

Background/Objectives: To investigate the incidence and risk factors for postoperative hyphema following Baerveldt glaucoma implant (BGI) surgery. Methods: This retrospective study included Japanese patients who underwent BGI surgery at Fukui University Hospital between 1 April 2012 and 31 March 2025. Hyphema was defined as any clinically detectable blood in the anterior chamber. Baseline demographic, ocular, and surgical variables were compared between eyes with and without hyphema. Independent risk factors for hyphema were determined using multivariable logistic regression analysis. Results: Of 273 eyes, 77 (28.2%) developed postoperative hyphema. On multivariable analysis, tube insertion site and intraocular pressure (IOP) on postoperative day 1 were identified as independent predictors. Although the overall effect of tube insertion site was borderline (p = 0.074), anterior chamber (odds ratio [OR], 2.83; p = 0.036) and ciliary sulcus insertion (OR, 2.88; p = 0.031) were associated with significantly higher risk of hyphema compared with vitreous cavity insertion. Lower postoperative day 1 IOP was also a significant predictor (p < 0.01). Patient-related factors, including age, diabetes mellitus, hypertension, antithrombotic therapy, neovascular glaucoma (NVG), combined surgery, number of previous intraocular surgeries, and preoperative IOP, were not independently associated with hyphema. In a sensitivity analysis excluding NVG eyes (n = 191), vitreous cavity insertion remained protective, and postoperative day 1 IOP remained an independent predictor. Conclusions: Postoperative hyphema following BGI surgery is primarily determined by surgical factors and early postoperative IOP. Vitreous cavity tube insertion is associated with a markedly lower hyphema risk than anterior chamber or ciliary sulcus insertion. Full article

Background/Objectives: To investigate the rate of exudative progression over time in patients with non-exudative macular neovascularization (NE-MNV) associated with various acquired macular degenerations presenting with a double-layer sign (DLS) or triple-layer sign (TLS) on optical coherence tomography (OCT), and to identify potential predictors of this progression. Methods: Fifty-one eyes of fourty-nine patients with a DLS or TLS on OCT images were identified. OCT angiography (OCTA) was performed to detect NE-MNV, and only eyes with confirmed NE-MNV were included in the final analysis. Central macular thickness (CMT), choroidal thickness (CT), morphology of the abnormal vessels, the duration of follow-up, progression to active exudative MNV, and the status of the contralateral eye were assessed. Results: The final analysis included 32 eyes of 30 participants with NE-MNV. The median observation period was 46 months. The causes of NE-MNV were age- related macular degeneration (AMD) in 59.38% of eyes, pachychoroid epitheliopathy (PPE) in 37.50%, and other causes in 3.12%. Exudation developed in 15.62% of eyes (median time to onset: 24 months), predominantly in the AMD subgroup. Abnormalities in the fellow eye were present in 59.38% of cases. Neither age nor other factors, including sex, cause of MNV, CMT, CT, MNV morphology, or fellow eye status, were statistically significant predictors of progression to active MNV (p = 0.67, p > 0.99, p = 0.62, p = 0.09, p = 0.09, p = 0.2, p = 0.62, resp.). Conclusions: NE-MNV is an asymptomatic condition that may occur in the course of various retinal diseases. While DLS and TLS demonstrate high sensitivity and specificity for the diagnosis of NE-MNV, their presence does not always indicate concurrent MNV. Multimodal imaging is essential for accurate monitoring of these patients and detection of potential disease progression. Full article

The Indian Diabetic Retinopathy Image Dataset (IDRiD) has been widely adopted for DR lesion segmentation research. However, it contains annotation gaps for proliferative DR lesions and labeling errors that limit its utility for comprehensive automated screening systems. We present Refined IDRiD, an enhanced version that addresses these limitations through (1) expert ophthalmologist validation and correction of labeling errors in original annotations for four non-proliferative lesions (microaneurysms, hemorrhages, hard exudates, cotton-wool spots), (2) the addition of three critical proliferative DR lesion annotations (neovascularization, vitreous hemorrhage, intraretinal microvascular abnormalities), and (3) the integration of comprehensive anatomical context (optic disc, fovea, blood vessels, retinal region). A team of three ophthalmologists (one senior specialist with >10 years’ experience, two expert fundus image annotators) conducted systematic annotation refinement, achieving an inter-rater agreement F1-score of 0.9012. The enhanced dataset comprises 81 high-resolution fundus images with pixel-level annotations for seven DR lesion types and four anatomical structures. All images were cropped to the retinal region of interest and resized to 1024 × 1024 pixels, with annotations stored as unified grayscale masks containing 12 classes enabling efficient multi-task learning. Refined IDRiD enables training of comprehensive DR screening systems capable of detecting both non-proliferative and proliferative stages while reducing false positives through anatomical context awareness. Full article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is an extremely rare autosomal recessive disorder, with only a few hundred affected individuals worldwide. Since its initial recognition in the 1980s, only a limited number of studies have described its ocular manifestations. The aim of this review was to summarize and organize the available published evidence regarding ocular findings in LCHADD and their classification. A PubMed search was conducted for studies describing ocular findings associated with LCHADD, using combinations of the following keywords: LCHADD, chorioretinopathy, ocular findings, vision, therapy, and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The review included studies published within the past 20 years that reported at least six cases. The search identified 11 eligible studies. Findings were grouped into three categories: LCHADD-associated chorioretinopathy, macular neovascularization (MNV), and the effects of dietary therapy on visual function. Chorioretinopathy emerged as the major pathognomonic ocular feature of LCHADD. MNV was reported in approximately 20% of eyes, often bilaterally but not simultaneously. Progressive myopia was observed in most patients. Newborn screening and early initiation of dietary therapy appear critical and may slow the progression of chorioretinopathy. A strong correlation between patient age and chorioretinopathy severity was consistently demonstrated, and visual deterioration occurred even in individuals with good metabolic control. LCHADD is a life- and vision-threatening disorder characterized by a distinctive chorioretinopathy present in nearly all patients. Early detection through newborn screening and regular ophthalmic follow-up is essential for the optimal management of affected individuals. Full article

Purpose: This study aims to develop a method for detecting referable (intermediate and advanced) age-related macular degeneration (AMD) and neovascular AMD, as well as providing an automatic segmentation of choroidal neovascularisation (CNV) on colour fundus retinal images. We also demonstrated that brain health risk scores estimated by AI-based Retinal Image Analysis (ARIA), such as white matter hyperintensities and depression, are significantly associated with AMD and neovascular AMD. Methods: A primary dataset of 1480 retinal images was collected from Zhongshan Hospital of Fudan University for training and 10-fold cross-validation. Additionally, two validation subdataset comprising 238 images (retinal images and wide-field images) were used. Using fluorescein angiography-based labels, we applied the InceptionResNetV2 deep network with the ARIA method to detect AMD, and a transfer ResNet50_Unet was used to segment CNV. The risks of cerebral white matter hyperintensities and depression were estimated using an AI-based Retinal Image Analysis approach. Results: In a 10-fold cross-validation, we achieved sensitivities of 97.4% and 98.1%, specificities of 96.8% and 96.1%, and accuracies of 97.0% and 96.4% in detecting referable AMD and neovascular AMD, respectively. In the external validation, we achieved accuracies of 92.9% and 93.7% and AUCs of 0.967 and 0.967, respectively. The performances on two validation sub-datasets show no statistically significant difference in detecting referable AMD (p = 0.704) and neovascular AMD (p = 0.213). In the segmentation of CNV, we achieved a global accuracy of 93.03%, a mean accuracy of 91.83%, a mean intersection over union (IoU) of 68.7%, a weighted IoU of 89.63%, and a mean boundary F1 (BF) of 67.77%. Conclusions: The proposed method shows promising results as a highly efficient and cost-effective screening tool for detecting neovascular and referable AMD on both retinal and wide-field images, and providing critical insights into CNV. Its implementation could be particularly valuable in resource-limited settings, enabling timely referrals, enhancing patient care, and supporting decision-making across AMD classifications. In addition, we demonstrated that AMD and neovascular AMD are significantly associated with increased risks of WMH and depression. Full article

Diabetic Macular Edema (DME) poses a significant threat to vision, often leading to permanent blindness if not detected and addressed swiftly. Existing manual diagnostic methods are arduous and inconsistent, highlighting the pressing necessity for automated, accurate, and personalized solutions. This study presents a novel methodology for diagnosing DME and categorizing choroidal neovascularization (CNV), drusen, and normal conditions from fundus images through the application of transfer learning models and bio-inspired optimization methodologies. The methodology utilizes advanced transfer learning architectures, including VGG16, VGG19, ResNet50, EfficientNetB7, EfficientNetV2-S, InceptionV3, and InceptionResNetV2, for analyzing both binary and multi-class Optical Coherence Tomography (OCT) datasets. We combined the OCT datasets OCT2017 and OCTC8 to create a new dataset for our study. The parameters, including learning rate, batch size, and dropout layer of the fully connected network, are further adjusted using the bio-inspired Particle Swarm Optimization (PSO) method, in conjunction with thorough preprocessing. Explainable AI approaches, especially Shapley additive explanations (SHAP), provide transparent insights into the model’s decision-making processes. Experimental findings demonstrate that our bio-inspired optimized transfer learning Inception V3 significantly surpasses conventional deep learning techniques for DME classification, as evidenced by enhanced metrics including the accuracy, precision, recall, F1-score, misclassification rate, Matthew’s correlation coefficient, intersection over union, and kappa coefficient for both binary and multi-class scenarios. The accuracy achieved is approximately 98% in binary classification and roughly 90% in multi-class classification with the Inception V3 model. The integration of contemporary transfer learning architectures with nature-inspired PSO enhances diagnostic precision to approximately 95% in multi-class classification, while also improving interpretability and reliability, which are crucial for clinical implementation. This research promotes the advancement of more precise, personalized, and timely diagnostic and therapeutic strategies for Diabetic Macular Edema, aiming to avert vision loss and improve patient outcomes. Full article

Retinal diseases are among the leading causes of vision impairment worldwide, and early detection is essential for enabling personalized treatments and preventing irreversible vision loss. In this paper, we propose a method aimed to identify and localize retinal conditions, i.e., Age-Related Macular Degeneration, Diabetic Retinopathy, and Choroidal Neovascularization, using explainable deep learning. For this purpose, we consider seven fine-tuned convolutional neural networks: MobileNet, LeNet, StandardCNN, CustomCNN, DenseNet, Inception, and EfficientNet. Moreover, we develop a novel architecture i.e., NeoNet, specifically designed for the detection of retinal diseases, achieving an accuracy of 99.5%. Furthermore, with the aim to provide explaianability behind the model decision, we highlight the most critical regions within retinal images influencing the predictions of the model. The obtained results show the ability of the model to detect pathological features, thereby supporting earlier and more accurate diagnosis of retinal diseases. Full article

Background: Age-related macular degeneration is a major cause of vision loss, and improved visualization of macular neovascularization (MNV) on OCT angiography (OCTA) could enhance clinical assessment. This study aimed to establish a simple and accessible image enhancement method. Methods: We retrospectively analyzed 24 eyes from 22 patients with MNV at the Doheny UCLA Eye Centers. Grayscale-inverted OCTA images were generated using the basic “Invert” function in ImageJ 1.51 23. Each original and inverted image pair was assessed for seven MNV-related features: structure and area within 3 × 3 mm, 6 × 6 mm and 12 × 12 mm scans, and presence of polypoidal lesions. Twenty-one ophthalmologists graded visibility using a standardized five-point scale. Paired comparisons were performed using the Wilcoxon signed-rank test. Results: Grayscale inversion significantly improved the visualization of MNV structure in 6 × 6 mm scans (mean difference: +0.67 ± 1.02; p = 0.008), 12 × 12 mm scans (+0.62 ± 1.07; p = 0.013), and detection of polypoidal lesions (+0.43 ± 0.98; p = 0.030). No significant differences were found for 3 × 3 mm structure (p = 0.793) or area-related features (all p > 0.3). Conclusions: Grayscale inversion may enhance MNV visibility and polypoidal lesion detection on OCTA. As this study relied solely on subjective assessments, future work should incorporate quantitative image analysis. Full article

Objective: The high expression of prostate-specific membrane antigen (PSMA) associated with neovascularization in non-prostatic malignant tumors and metastatic lesions has been documented in many studies. By taking advantage of the absence of PSMA-related background activity in brain tissue, in recent years, PSMA has been used for the imaging of glial tumors, especially for postoperative follow-up. The aim of this prospective study was to investigate the diagnostic value of ⁶⁸Ga-PSMA-11 PET/CT by comparing ⁶⁸Ga-PSMA-11 PET/CT, ¹⁸F-FDG PET/CT, and MRI findings in patients with brain metastases (BM). Materials and Method: In this prospective study, 27 cases, 11 female and 16 male, with a mean age of 59.48 ± 12.21 years, were included. Patients diagnosed with BM on ¹⁸F-FDG PET/CT or CT/MRI at initial diagnosis or in the follow-up period were included in the study. PET findings of BM lesions obtained from ¹⁸F-FDG and ⁶⁸Ga-PSMA-11 PET/CT imaging, demographic characteristics, histopathological data of the primary foci, and other clinical features were evaluated together. Results: Twenty-four (89%) patients were included in the study for restaging, two (7%) patients for local recurrence assessment, and one (4%) patient for local recurrence and suspicion of additional lesions. The indications for ¹⁸F-FDG PET/CT were breast carcinoma for 37% (n:10), followed by lung carcinoma for 26% (n:7), colorectal adenocarcinoma for 14% (n:4), squamous cell larynx carcinoma for 7% (n:2), gastric signet ring cell carcinoma for 4% (n:1), pancreatic NET3 for 4% (n:1), thyroid papillary carcinoma for 4% (n:1), and malignant melanoma for 4% (n:1). In total, 26/27 included patients had PSMA-positive brain metastases but only one patient had PSMA-negative brain metastases with ⁶⁸Ga-PSMA-11 PET/CT imaging. This patient was followed with a diagnosis of primary larynx squamous carcinoma and had a mass suspected of brain metastases. Further tests and an MRI revealed that the lesion in this patient was a hemorrhagic metastasis. The smallest metastatic focus on ⁶⁸Ga-PSMA-11 PET/CT imaging was 0.22 cm, also confirmed by MRI (range: 0.22–2.81 cm). The mean ± SD SUVmax of the BM lesions was 17.9 ± 8.6 and 6.8 ± 5.2 on ¹⁸F-FDG PET/CT and ⁶⁸Ga-PSMA-11 PET/CT imaging, respectively. Metastatic foci that could not be detected by ¹⁸F-FDG PET/CT imaging were successfully detected with ⁶⁸Ga-PSMA-11 PET/CT imaging in 11 cases (42%). The distribution and number of metastatic lesions observed on cranial MRI and ⁶⁸Ga-PSMA-11 PET/CT were compatible with each other for all patients. Immunohistochemical staining was performed in the primary tumor of 10 (38%) cases, and positive IHC staining with PSMA was detected in 5 patients. In addition, positive IHC staining with PSMA was detected in all of the four surgically excised brain metastatic tumor foci. Conclusions: In this study,⁶⁸Ga-PSMA-11 PET/CT appears to be superior to ¹⁸F-FDG in detecting BM from various tumors, largely due to its high expression associated with neovascularization and the absence of PSMA expression in normal brain parenchyma. This lack of physiological uptake in healthy brain tissue provides excellent tumor-to-background contrast, further supporting the advantage of ⁶⁸Ga-PSMA-11 over ¹⁸F-FDG for BM imaging. However, larger studies are required to confirm these findings, particularly through comparisons across tumor types and histopathological subgroups, integrating PSMA immunohistochemistry (IHC) scores with ⁶⁸Ga-PSMA-11 uptake levels. Beyond its diagnostic potential, our results may also inform PSMA-targeted therapeutic strategies, offering new perspectives for the management of patients with brain metastases from diverse primary tumors. Full article

The interaction between tumor cells and stroma in urological malignancies is governed by secreted and damage-associated factors that promote angiogenesis, immune modulation, and metastasis. This review synthesizes current evidence on six biomarkers—GDF15, VEGF, TGF-β1, HSP90, HMGB1, and S100A9—detailing their biological functions and clinical implications. We discuss GDF15’s roles in metabolic stress and immune regulation, VEGF’s central role in neovascularization, and TGF-β1’s dualistic tumor-suppressive and promotive effects. We then examine damage-associated molecular patterns, highlighting HSP90’s extracellular immunomodulation, HMGB1’s signaling via pattern-recognition receptors, and S100A9’s pro-inflammatory activity through RAGE and Toll-like receptors. Comparative analyses across renal cell carcinoma and bladder cancer cohorts elucidate each marker’s diagnostic accuracy, prognostic value, and predictive capacity for targeted therapies. Notably, GDF15 and HSP90 correlate with ferroptosis susceptibility in RCC and urinary VEGF with HMGB1 increases the chances of non-invasive bladder cancer detection. We suggest that multiplexed biomarker panels could enhance early detection, risk stratification, and personalized treatment in urological oncology. We advocate for prospective studies to validate thresholds, clarify interactions, and improve clinical integration. Full article

Background and Objectives: Cuticular drusen are a rare form of early-onset drusen maculopathy, which falls within the spectrum of age-related macular degeneration. Previous research suggests that cuticular drusen can result from monogenic inheritance of pathogenic variants in the complement factor H coding CFH gene. These variants impair regulation of the alternative complement pathway, leading to increased central retinal inflammation, progressive tissue damage, and ultimately, vision loss. This study aims to assess the pathogenic potential of the variant NM_000186.4(CFH):c.1318C>T, previously classified as a variant of unknown significance. Materials and Methods: Eight individuals from three generations of a single family underwent ophthalmologic evaluation, including biomicroscopy, ophthalmoscopy, optical coherence tomography, and optical coherence tomography angiography. Subsequently, whole-exome sequencing of the proband‘s DNA sample was performed. Sanger sequencing was used to validate the whole-exome sequencing results and to assess segregation of the identified variant in the family. The individuals’ clinical, instrumental, and genetic data were collected and stored in the database iGENLIT. Results: the heterozygous NM_000186.4(CFH):c.1318C>T variant was detected in six family members. Of these, five have been clinically diagnosed with cuticular drusen. Three affected individuals are currently in their 40s and maintain good visual acuity. In two family members, the drusen progressed to choroidal neovascularization, fibrosis, and atrophy, resulting in profound visual loss at the ages of 54 and 62. One 21-year-old individual also carries the variant, but currently shows no evidence of drusen, likely due to age. Conclusion: In this study, we demonstrated a genotype–phenotype relationship in individuals with the NM_000186.4(CFH):c.1318C>T variant, which suggests its pathogenic role in the development of cuticular drusen and associated complications. Full article