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Spectral-domain OCTA reveals abnormalities at different levels of perifoveolar retinal capillary network and is able to quantify the FAZ in RVO. Longitudinal studies may be considered to evaluate the clinical utility of OCTA in RVO and other retinal vascular diseases.

Purpose To study the precise structural aspects of a type 2 neovascular membrane in a patient with age-related macular degeneration (AMD) using optical coherence tomography (OCT) angiography and perform sequential quantitative analysis of the membrane after ranibizumab therapy. Patients and methods Split-spectrum amplitude-decorrelation (SSADA) OCT angiography macular cubes (3 × 3 mm) were acquired with a light source centered at 840 nm, a bandwidth of 45 nm, and an A-scan-rate of 70 000 scans per second. Visible pathologic vessels were outlined manually on average intensity projection en face images, and the area of the lesion and the vessel density were measured at baseline and follow-up. Results At baseline, the neovascular lesion measured 4.12 mm 2 and the vessel density was 19.83 mm ), although the large central trunks of the lesion were unchanged. Conclusions In this study, an obvious reduction in size and vessel density of the neovascular lesion was noted after treatment with ranibizumab using SSADA OCT angiography technology. Microvascular components can be delineated with precision, suggesting that this technique may be useful for the management of patients with neovascular AMD in a clinical setting as well as for future clinical trials.

Achromatopsia linked to variations in the CNGA3 gene is associated with day blindness, poor visual acuity, photophobia, and involuntary eye movements owing to lack of cone photoreceptor function. No treatment is currently available. OBJECTIVE To assess safety and vision outcomes of supplemental gene therapy with adeno-associated virus (AAV) encoding CNGA3 (AAV8.CNGA3) in patients with CNGA3-linked achromatopsia. DESIGN, SETTING, AND PARTICIPANTS This open-label, exploratory nonrandomized controlled trial tested safety and vision outcomes of gene therapy vector AAV8.CNGA3 administered by subretinal injection at a single center. Nine patients (3 per dose group) with a clinical diagnosis of achromatopsia and confirmed biallelic disease-linked variants in CNGA3 were

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With optical coherence tomography angiography, it is possible to identify small intraretinal neovascular complexes communicating with the deep retinal capillary plexus in eyes with Type 3 neovascularization secondary to age-related macular degeneration. Qualitative and quantitative analyses of Type 3 neovascular complexes can be performed using optical coherence tomography angiography.

We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A cohort of 2,158 affected patients from 1,785 families diagnosed with IRD was analyzed by targeted next‐generation sequencing (NGS). Patients with single‐gene disorders (i.e., choroideremia and retinoschisis) were analyzed by Sanger sequencing and multiplex ligation‐dependent probe amplification. Our study cohort accounts for ∼7% of the estimated 30,000 patients with IRD in Germany, thereby providing representative data for both the prevalence of IRDs and the mutation spectrum of IRD genes for the population in Germany. We achieved a molecular diagnostic rate of 35–95%, depending on the clinical entities, with a high detection rate for achromatopsia, retinoschisis, and choroideremia, and a low detection rate for central areolar choroidal dystrophy and macular dystrophy. A total of 1,161 distinct variants were identified, including 501 novel variants, reaffirming the known vast genetic heterogeneity of IRD in a mainly outbred European population. This study demonstrates the clinical utility of panel‐based NGS in a large and highly heterogeneous cohort from an outbred population and for the first time gives a comprehensive representation of the genetic landscape of IRDs in Germany. The data are valuable and crucial for the scientific community and healthcare providers, but also for the pharmaceutical industry in the progressing field of personalized medicine and gene therapy.