Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases.

Posterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying choriocapillaris, encircling the retinal vascular arcades and optic disc. This condition distinctively preserves the foveal region, optic disc, and the outermost regions of the retina. Despite its distinct clinical presentation, due to the infrequency of its occurrence and the limited number of reported cases, the pathophysiology, and the genetic foundations of PPACD are still largely uncharted. This review aims to bridge this knowledge gap by investigating potential genetic contributors to PPACD, assessing current findings, and identifying genes that warrant further study. Emphasis is also placed on the crucial role of multimodal imaging in diagnosing PPACD, highlighting its importance in understanding disease pathophysiology. By analyzing existing case reports and drawing comparisons with similar retinal disorders, this paper endeavors to delineate the possible genetic correlations in PPACD, providing a foundation for future genetic research and the development of targeted diagnostic strategies.

Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7.

The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests. SDOCT provides a rapid and non-invasive imaging evaluation of disease progression over time. Additional examination including NIR imaging can provide further information on photoreceptor alteration and subtle disruption of the RPE, which are not evident with CFP at an early stage. Electrophysiological tests provide essential results on the state of cone and rod dystrophy, which could be paramount in guiding future genetic therapies. Multimodal imaging is a valuable addition to comprehensive ophthalmological examination in the diagnosis and management of patients with SCA7.

An Update on Multimodal Ophthalmological Imaging of Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.

Sturge-Weber syndrome (SWS) is characterized by facial port-wine stains, leptomeningeal hemangiomas, and prominent ocular manifestations such as glaucoma and diffuse choroidal hemangiomas (DCHs). Imaging modalities are critical for diagnosing and longitudinally monitoring DCHs in SWS. Fundus photography is fundamental in assessing both eyes simultaneously, fluorescein angiography and indocyanine green angiography effectively map the retinal and choroidal circulation, and ultrasonography offers essential structural insights into the choroid and retina. NIR imaging reveals subtle retinal pigment changes, often overlooked in standard fundus examination. Enhanced depth imaging spectral domain optical coherence tomography (EDI-SDOCT) and swept-source OCT (SSOCT) improve the visualization of the choroidal-scleral boundary, essential for DCH characterization. The potential of OCT angiography (OCTA) is under exploration, particularly its role in predicting signs of disease progression or worsening, as well as potential new biomarkers such as the choroidal vascularity index (CVI). The present review aims to provide an update on multimodal imaging of DCHs in SWS.

The Choroidal Vascularity Index Versus Optical Coherence Tomography Angiography in the Evaluation of the Choroid with a Focus on Age-Related Macular Degeneration.

The choroid is the most vascularized structure of the eye and it is fundamental for the trophism of the outer retina. Its proper functioning and homeostasis represent key points in maintaining normal retinal physiology. Choroidal alterations may be implicated in the development and progression of numerous pathologies; therefore, in-depth studies using imaging techniques can be of crucial relevance to understanding the pathophysiology of retinal-choroidal diseases. The advent of spectral-domain optical coherence tomography (SDOCT) has enabled the non-invasive study of the choroid in vivo and the most recent development, optical coherence tomography angiography (OCTA), allows for the high-resolution visualization of the choriocapillaris and the choroid in regard to vascularization. The choroidal vascularity index (CVI) is a new parameter calculated on SDOCT scans and is defined as the ratio of the luminal area to the total choroidal area. In this review, a study of the choroid using OCTA and CVI will be evaluated in depth and the pros and cons of these two methods will be analyzed, with a particular focus on age-related macular degeneration.

Choroidal vascularity index and choroidal thickness: potential biomarkers in retinitis pigmentosa.

Retinitis pigmentosa (RP) is the commonest inherited retinal dystrophy. It is characterized by progressive photoreceptor degeneration and cell death and ongoing neuronal and vascular impairment. In recent years, pathophysiological alterations of the choroid have begun to be appreciated in RP. Thus, representing a potential diagnostic and therapeutic biomarker. In particular, choroidal thickness and the choroidal vascularity index can be used to understand the pathogenesis of disease and evaluate new therapeutic possibilities. Photoreceptor changes seen in eyes with RP are directly correlated to a decrease of choroidal flow, leading to a strong association between relative choroidal ischemia and visual impairment. In this review we analyse the literature on choroidal thickness and choroidal vascularity index in patients with RP and assess whether these markers may reflect progression of disease from an anatomical and functional point of view.

Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients.

Near-infrared reflectance (NIR) is a noninvasive, contactless, and rapid in vivo imaging technique for visualizing subretinal alterations in the photoreceptor layer, retinal pigment epithelium, and choroid. The present report describes the application of this imaging method in retinal and choroidal pathologies affecting young patients where scarce cooperation, poor fixation, and intense glare sensation can result in a challenging clinical examination. A literature search of the MEDLINE database was performed using the terms "near-infrared reflectance" and "spectral-domain optical coherence tomography." Articles were selected if they described the diagnostic use of NIR in children or young adults. Of 700 publications, 42 manuscripts published between 2005 and 2020 were inherent to children or young adults and were considered in this narrative literature review. The first disease category is the phakomatoses where NIR is essential in visualizing choroidal alterations recognized as cardinal biomarkers in neurofibromatosis type 1, microvascular retinal alterations, and retinal astrocytic hamartomas. Another diagnostic application is the accurate visualization of crystals of various nature, including the glistening crystals that characterize Bietti crystalline dystrophy. Acute macular neuropathy and paracentral acute middle maculopathy represent a further disease category with young adulthood onset where NIR is not only diagnostic but also essential to monitor disease progression. A further interesting clinical application is to facilitate the detection of laser-induced maculopathy where funduscopic examination can be normal or subnormal. In conclusion, NIR imaging has a noninterchangeable role in diagnosing certain retinal diseases, especially in children and young adults where there is scarce collaboration and a lack of evident clinical findings. Moreover, this technique can reveal unique retinal and choroidal biomarkers highly specific to rare conditions.

Volume Rendering of Angiographic Optical Coherence Tomography Angiography in Fovea Plana and Normal Foveal Pit.

This paper aims to study adaptative vascular arrangements in idiopathic fovea plana with volume-rendered optical coherence tomography angiography (OCTA). A retrospective review of two cases of idiopathic fovea plana (mean age: 26.5 years) and two age-matched controls imaged with OCTA was conducted using spectral-domain OCTA (RTVue XR Avanti, Optovue, Inc., Fremont, CA) equipped with the AngioVue software. Both en face OCTA slabs and OCTA b scans were processed through Fiji software (http://fiji.sc; software version 2.0.0-rc-68/1.52e), and then extracted as image sequences for volume rendering reconstructions using the ImageVis3D volume rendering system (3.1.0 release). Eyes with idiopathic fovea plana demonstrated a regular superficial vascular plexus connecting to a single vascular monolayer representing the deeper vascular plexuses. At this location, several vertical short path connections were demonstrated, in contraposition with normal eyes where short path connections were infrequently observed. Advances in three-dimensional OCTA reconstruction increase the understanding of vascular connections and arrangement in retinal plexuses and possible anatomical variations that cannot be detected with conventional two-dimensional b scans.

An Iconic Case of Pigmentary Glaucoma: Brief Review of the Literature.

Pigment dispersion syndrome and pigmentary glaucoma are two conditions characterized by pigment dispersion originating from the posterior part of the iris and its accumulation on the trabecular meshwork, corneal endothelium, and anterior surface of the lens. The pigment on the trabecular meshwork can cause chronic inflammation with a secondary reduction of its function and an increase in intraocular pressure. The case presented represents a typical example of pigmentary glaucoma in a myopic patient in which all the signs, symptoms, and complications typical of these pathologies were present. We report and describe an 8-year-long follow-up period with clinical and instrumental examinations.

Short-Term Effects of Dark Chocolate on Retinal and Choriocapillaris Perfusion in Young, Healthy Subjects Using Optical Coherence Tomography Angiography.

(1) Aim: Contrasting results have been published on the effect of dark chocolate on visual function. The aim of this study was to evaluate retinal and choriocapillaris perfusion, using optical coherence tomography angiography (OCT-A), and visual function in healthy subjects following dark chocolate ingestion. (2) Methods: This prospective randomized study was carried out on 18 healthy young subjects at the St. Andrea Hospital, Sapienza, University of Rome. Visual acuity assessment and a complete ophthalmologic examination were carried out at baseline. In session one, each subject was randomized to eat either a 100 g dark chocolate bar or a 100 g white chocolate bar. In session two, the opposite chocolate was given to each participant. OCT-A and best corrected visual acuity (BCVA) were performed before the chocolate was eaten and repeated 1, 2, and 3 h after that. Retinal vessel density and choriocapillaris flow area were assessed. (3) Results: 18 patients with a mean (SD) age of 26.3 (1.5) years were included. No significant differences between dark or white chocolate were found when evaluating foveal density (%), whole density (%), choriocapillaris flow area, and BCVA. (4) Conclusions: Dark chocolate did not result in significant changes in retinal perfusion and choriocapillaris flow area. However, given the results of other studies showing the positive effects of flavonoids on visual function, further studies are warranted using pure chocolate without other components such as caffeine that can potentially affect results. Furthermore, we cannot rule out the possible benefits of higher doses of flavonoids in dietary supplementation over a more extended period and in a larger patient population.