Search Results (11)

Stargardt disease (STGD1), the most common retinal dystrophy caused by pathogenic variants of the biallelic ABCA4 gene, results in irreversible vision loss. This cross-sectional case series study analyzes 18 unrelated Stargardt disease (STGD1) patients from southeast China, examining clinical and genetic features. Ophthalmological assessments included BCVA, ophthalmoscopy, fundus photography, and autofluorescence, with ultra-widefield OCT angiography carried out on one patient. Genetic testing uses targeted exome sequencing for eye disease genes. The mean age of onset was 44.3 years for adult onset (6 patients) and 9.6 years for childhood/adolescent onset (12 patients). The mean logMAR visual acuity was 0.96 (right eye) and 0.91 (left eye). Eight novel ABCA4 variants were found, including two nonsense, two frameshift deletions, one copy number variant, one splice-site alternation, and two deep intronic variants. The genotypes are as follows: 77.8% (14/18) biallelic heterozygous, 16.7% (3/18) homozygous, and one patient with three variants. The study underscores STGD1’s phenotypic and genotypic diversity, expands the ABCA4 mutation spectrum, and offers insights into therapeutic strategies. Full article

Objectives: The aim of this study was to establish the concordance between conventional 20 Mhz ultrasonography and an ultrawide-field (UWF) imaging system (Optos^® California) in the measurement of basal diameters of melanocytic choroidal tumors. Methods: A retrospective study comparing diagnostic tests was conducted in patients with untreated melanocytic choroidal lesions (either nevus or melanoma) who had undergone both UWF imaging and ultrasonography. Only cases with a clear visualization of tumor borders in both imaging modalities were included. Longitudinal and transversal base diameters of the melanocytic tumors were measured by 20 MHz US (one observer) and UWF fundus photography (two observers). Interobserver agreement was assessed for UWF imaging first to validate the technique. Then, UWF imaging measurements were compared with 20 MHz US results. Results: In total, 106 patient images were reviewed, of which 61 were excluded due to unclear visualization of tumor margins. We found excellent concordance (from ICC and defined Bland–Altman plots) for interobserver and inter-technique agreement in estimating basal diameters when using pseudocolor composite and red laser images by comparing them with 20 MHz US results. Conclusions: UWF fundus imaging, when complete visualization of the tumor margins is possible, could be as reliable as ultrasonography in the measurement of the basal diameters of choroidal melanocytic tumors. Full article

Background/Objectives: To investigate the role of multimodal imaging, including ultra-widefield fundus autofluorescence (UWFAF), in diagnosing and monitoring syphilitic chorioretinitis, focusing on the detection of placoid appearance and white dots/spots. We aim to classify syphilitic chorioretinitis as a white dot syndrome, given evident features in the context of recent case reports and previously unavailable multimodal imaging. Methods: This single-institution study was conducted as a consecutive, observational case series. Five eyes from three patients were diagnosed with syphilitic chorioretinitis using multimodal imaging, including ultra-widefield pseudocolor fundus photography and intravenous fluorescein angiography, UWFAF, and swept-source optical coherence tomography, upon laboratory results. Results: In all five eyes with serologically confirmed syphilitic chorioretinitis, UWFAF revealed hyperautofluorescent white dots and spots scattered in the fundus, a finding minimally apparent with fluorescein angiography. Two eyes did not show evidence of classic placoid lesions. The hyperautofluorescence resolved after standard neurosyphilis treatment with intravenous course of penicillin. Conclusions: The presence of dots and spots identified through UWFAF may indicate syphilitic chorioretinitis and support its classification as a white dot syndrome. Based on the presence of hyperautofluorescent placoid lesions in some but not all cases with dots and spots, this study highlights the utility of multimodal imaging, including the more recent availability of UWFAF, in diagnosing syphilitic chorioretinitis. Future research is needed to determine whether the dots and spots in syphilitic chorioretinitis represent direct spirochete infiltration or a secondary inflammatory response. Full article

X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS (n = 4), and patients referred to a clinic for inherited retinal diseases (n = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; p = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies. Full article

Diabetic retinopathy (DR), the most common microvascular complication of diabetes mellitus, represents the leading cause of acquired blindness in the working-age population. Due to the potential absence of symptoms in the early stages of the disease, the identification of clinical biomarkers can have a crucial role in the early diagnosis of DR as well as for the detection of prognostic factors. In particular, imaging techniques are fundamental tools for screening, diagnosis, classification, monitoring, treatment planning and prognostic assessment in DR. In this context, the identification of ocular and systemic biomarkers is crucial to facilitate the risk stratification of diabetic patients; moreover, reliable biomarkers could provide prognostic information on disease progression as well as assist in predicting a patient’s response to therapy. In this context, this review aimed to provide an updated and comprehensive overview of the soluble and anatomical biomarkers associated with DR. Full article

In this study, we examined the impact of diabetes mellitus (DM) disease duration on optical coherence tomography angiography (OCTA) parameters in diabetic patients without diabetic retinopathy (DR). A total of 1118 eyes from 1118 DM patients without DR were divided into three groups by DM duration: 0–5 years (short cohort; n = 571), 6–10 years (medium cohort; n = 306), and >10 years (long cohort; n = 241). Ultra-widefield fundus photography and nine OCTA parameters derived from the superficial retinal capillary plexus were analyzed. Perfusion density (PD) and vessel length density (VD) were significantly decreased within the 1 mm patch in patient OCTAs from the medium cohort compared to the short cohort. Conversely, PD and VD were significantly decreased within the 6 mm patch and inner ring among the long cohort compared to the short and medium cohorts. These findings remained consistent after controlled analysis. Patients in the medium cohort had the largest FAZ area, while patients in the long cohort had the smallest FAZ area, with a statistically significant difference between the two groups. Superficial PD and VD significantly decreased among the medium and long cohorts compared to the short cohort, confirming that subclinical, progressive macular vasculature change is associated with longer DM duration. However, while FAZ area significantly increased in the medium cohort, the long cohort exhibited decreased FAZ area, suggesting the latter may possess protective factors that decrease overall risk of DR development. Full article

Advancement of imaging technology in retinal diseases provides us more precise understanding and new insights into the diseases’ pathologies. Diabetic retinopathy (DR) is one of the leading causes of sight-threatening retinal diseases worldwide. Colour fundus photography and fluorescein angiography have long been golden standard methods in detecting retinal vascular pathology in this disease. One of the major advancements is macular observation given by optical coherence tomography (OCT). OCT dramatically improves the diagnostic quality in macular edema in DR. The technology of OCT is also applied to angiography (OCT angiograph: OCTA), which enables retinal vascular imaging without venous dye injection. Similar to OCTA, in terms of their low invasiveness, single blue color SLO image could be an alternative method in detecting non-perfused areas. Conventional optical photography has been gradually replaced to scanning laser ophthalmoscopy (SLO), which also make it possible to produce spectacular ultra-widefield (UWF) images. Since retinal vascular changes of DR are found in the whole retina up to periphery, it would be one of the best targets in UWF imaging. Additionally, evolvement of artificial intelligence (AI) has been applied to automated diagnosis of DR, and AI-based DR management is one of the major topics in this field. This review is trying to look back on the progress of imaging of DR comprehensively from the past to the present. Full article

(1) Background: Takayasu arteritis (TA) is a chronic inflammatory large-vessel vasculitis. Ultra-wide-field imaging allows describing the retinal lesions in these patients and correlating them with vascular supra-aortic stenosis. (2) Methods: In total, 54 eyes of 27 patients diagnosed with TA were included, and a complete ophthalmological examination was performed, including UWF color fundus photography (UWF-CFP), fluorescein angiography (UWF-FA), and computed tomography angiography measuring supra-aortic stenosis. Eleven patients underwent Doppler ultrasound imaging assessing the blood flow velocity (BFV) in the central retinal artery (CRA). (3) Results: Microaneurysms were detected in 18.5% of eyes on fundus examination, in 24.4% of eyes on UWF-CFP, and in 94.4% of eyes on UWF-FA. The number of microaneurysms significantly correlated with the presence of an ipsilateral supra-aortic stenosis (p = 0.026), the presence of hypertension (p = 0.0011), and the duration of the disease (p = 0.007). The number of microaneurysms per eye negatively correlated with the BFV in the CRA (r = −0.61; p = 0.003). (4) Conclusions: UWF-FA improved the assessment of TA-associated retinal findings. The significant correlation between the number of microaneurysms and the BFV in the CRA gives new insight to our understanding of Takayasu retinopathy. The total number of microaneurysms could be used as an interesting prognostic factor for TA. Full article

Introduction: Urbanization has caused dramatic changes in lifestyle, and these rapid transitions have led to an increased risk of noncommunicable diseases, such as type 2 diabetes. In terms of cost-effectiveness, screening for diabetic retinopathy is a critical aspect in diabetes management. The aim of this study was to review the imaging modalities employed for retinal examination in diabetic retinopathy screening. Methods: The PubMed and Web of Science databases were the main sources used to investigate the medical literature. An extensive search was performed to identify relevant articles concerning “imaging”, “diabetic retinopathy” and “screening” up to 1 June 2021. Imaging techniques were divided into the following: (i) mydriatic fundus photography, (ii) non-mydriatic fundus photography, (iii) smartphone-based imaging, and (iv) ultrawide-field imaging. A meta-analysis was performed to analyze the performance and technical failure rate of each method. Results: The technical failure rates for mydriatic and non-mydriatic digital fundus photography, smartphone-based and ultrawide-field imaging were 3.4% (95% CI: 2.3–4.6%), 12.1% (95% CI: 5.4–18.7%), 5.3% (95% CI: 1.5–9.0%) and 2.2% (95% CI: 0.3–4.0%), respectively. The rate was significantly different between all analyzed techniques (p < 0.001), and the overall failure rate was 6.6% (4.9–8.3%; I² = 97.2%). The publication bias factor for smartphone-based imaging was significantly higher than for mydriatic digital fundus photography and non-mydriatic digital fundus photography (b = −8.61, b = −2.59 and b = −7.03, respectively; p < 0.001). Ultrawide-field imaging studies were excluded from the final sensitivity/specificity analysis, as the total number of patients included was too small. Conclusions: Regardless of the type of the device used, retinal photographs should be taken on eyes with dilated pupils, unless contraindicated, as this setting decreases the rate of ungradable images. Smartphone-based and ultrawide-field imaging may become potential alternative methods for optimized DR screening; however, there is not yet enough evidence for these techniques to displace mydriatic fundus photography. Full article

Purpose: To evaluate the sensitivity and specificity of ultrawide-field fundus photography (UWF-FP) for the detection and classification of sickle cell retinopathy (SCR) by ophthalmologists with varying degrees of expertise in retinal disease. Methods: Patients presenting with sickle cell disease (SCD) in the Créteil University Eye Clinic, having undergone UWF-FP and ultrawide-field fluorescein angiography (UWF-FA) on the same day, were retrospectively included. Eyes with previous retinal photocoagulation were excluded. SCR was graded independently by UWF-FP and UWF-FA using Goldberg classification by two ophthalmologists with varying expertise levels. Results: Sixty-six eyes of 33 patients were included in the study. The sensitivity of UWF-FP for the detection of proliferative SCR was 100%, (95% confidence interval [CI95%] 76.8–100) for the retinal specialist and 100% (CI95% 71.5–100) for the ophthalmology resident. The specificity of UWF-FP for the detection of proliferative SCR was 100% (CI95% 92.7–100) for the retinal specialist and 98.1% (CI95% 89.7–100) for the ophthalmology resident. Conclusions: UWF-FP is a valuable exam for proliferative SCR screening, with excellent sensitivity and specificity and a good inter-grader agreement for ophthalmologists with various degree of skills, and is easy to use in a real-life setting. Full article

High myopia may develop to pathologic myopia, which brings severe visual impairment; however, the etiology is not fully understood. We, therefore, investigated the relationship between the presence of posterior staphyloma and posterior ocular disorders by assessing the patients with high myopia. A retrospective study was performed for the patients, who have more than 26 mm of the axial length and of whom fundus photography was taken with an ultra-widefield retinal imaging system. The objectives were 138 cases encompassing 229 eyes. In 138 cases, 91 were bilateral and 47 were unilateral. The averages ± SD of axial length of bilateral and unilateral were 28.8 ± 2.2 mm, 27.3 ± 1.2 mm, respectively, showing statistically significant difference. The number of eyes with and without posterior staphyloma were 107 (46.7%) and 122 (53.3%), respectively. Retinal detachment and retinal breaks are more observed in cases without posterior staphyloma (p = 0.017). Myopic choroidal neovascularization (mCNV) (p = 0.002), chorioretinal atrophy (p < 0.001), retinoschisis (p < 0.001), and optic neuropathy (p = 0.038) are more often seen in cases with posterior staphyloma. In conclusion, the prevalence rates of myopic choroidal neovascularization, retinal choroidal atrophy, and optic neuropathy were significantly higher with posterior staphyloma. The rate of periocular disorders such as retinal detachment was significantly higher without posterior staphyloma. These results indicate associations between types of pathological myopia and presence or absence of posterior staphyloma analyzed by ultra-widefield retinal imaging. Full article