Extensive macular atrophy with pseudodrusen-like appearance (EMAP) was first described in France in 2009 as a symmetric and rapidly progressive form of macular atrophy primarily affecting middle-aged individuals. Despite the recent identification of a significant number of cases in Italy and worldwide, EMAP remains an underrecognized condition. The clinical triad typical of EMAP consists of vertically oriented macular atrophy with multilobular borders, pseudodrusen-like deposits across the posterior pole and mid-periphery, and peripheral pavingstone degeneration.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
December 2024
Purpose: To report a case of multifocal vitelliform lesions in a patient affected by metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the m.3243A>G variant.
Observations: A 37-year-old woman affected by MELAS was referred to our center for progressive vision deterioration.
Graefes Arch Clin Exp Ophthalmol
August 2024
Purpose: To report the association between keratoconus (KC) and pachychoroid pigment epitheliopathy (PPE). As secondary outcome, we explored the relation between subfoveal choroidal thickness (SFCT) and topometric indexes.
Methods: Retrospective, observational, cross-sectional, case-control study.
Purpose: To investigate the clinical, functional, and imaging characteristics in patients affected by inherited retinal diseases associated with RDH5 and RLBP1 gene variants, and to report novel genotype-phenotype correlations.
Design: Retrospective single-center cohort study.
Methods: Twenty-two patients with molecularly confirmed RLBP1-associated retinopathy and 5 with RDH5-associated retinopathy.
Purpose: To compare non-syndromic and syndromic forms of -related retinitis pigmentosa (RP) by means of structural optical coherence tomography (OCT) and OCT-angiography (OCTA).
Methods: Observational, cross-sectional, multicenter study. All patients underwent best corrected visual acuity (BCVA) measurement, OCT (Spectralis HRA + OCT, Heidelberg Engineering) and OCTA (OCT DRI Topcon Triton, Topcon Corporation).
Purpose: To describe the clinical outcome and late-stage findings of extensive macular atrophy with pseudodrusen-like appearance (EMAP).
Design: Retrospective cohort study.
Participants: Seventy-eight patients (156 eyes) affected by EMAP.
Purpose: Vitreoretinal lymphoma (VRL) is a rare lymphoma affecting the vitreous and the retina. Clinical diagnosis is challenging and often delayed and may lead to aggravated prognosis. This study aims to review multimodal imaging findings in VRL.
View Article and Find Full Text PDFPurpose: To analyze the alterations at the level of the inner retina in patients affected by Stargardt disease (STGD1).
Methods: Cross-sectional investigation involving STGD1 patients with genetically confirmed diagnosis, who underwent optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), and microperimetry.
Results: Overall, 31 patients (62 eyes) with genetically confirmed STGD1 were included in the study.
Purpose: To report the acute onset of macular atrophy soon after photobiomodulation (PBM) administration in a patient with intermediate age-related macular degeneration (AMD).
Methods: Optical coherence tomography (OCT) was performed in the study eye before and after PBM.
Results: A patient with drusenoid pigment epithelium detachment (D-PED) underwent PBM.
Purpose: To determine if circulating antiretinal antibodies (ARAs) differ between patients affected by retinitis pigmentosa (RP) and control participants and to assess whether ARAs are associated with clinical outcomes in patients with RP.
Methods: Cross-sectional study involving a group of patients clinically diagnosed with RP and a control group of healthy participants. Serum autoantibodies against enolase, heat shock protein 70 (HSP70), and carbonic anhydrase II (CAII) were tested in all participants using Jess capillary Western blot.
Purpose: To describe the retinal phenotype associated with the p.Pro101Thr BEST1 variant.
Design: Retrospective, observational case series.
Purpose: To investigate the clinical utility of choroidal quantitative assessment associated with the presence of macular neovascularization (MNV) or atrophy in high myopia.
Methods: The study was designed as a retrospective case series with two-year follow-up. We measured choroidal thickness (CT) and the presence and subtype of dome-shaped macula (DSM).
Pigmented paravenous chorioretinal atrophy (PPCRA) is an uncommon form of chorioretinal atrophy characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinal pigment epithelial atrophy that are distributed along the retinal veins. Most patients are asymptomatic, and evidence suggest that PPCRA is slowly progressing. Unless macular involvement is present, the majority of patients usually retain a normal visual function.
View Article and Find Full Text PDFPurpose: The purpose of this study was to investigate the relation among hyperautofluorescent ring patterns, visual acuity (VA), and optical coherence tomography (OCT) features in patients with retinitis pigmentosa (RP), and to describe its modifications over time.
Methods: This was a retrospective, longitudinal, and observational study. Clinical and imaging data from the first and last available visits of patients with a clinical diagnosis of RP were reviewed.
Objective: To assess the relationship between ≥ 1 localizations of intraretinal fluid (IRF) within retinal layers and the 2-year outcome in a cohort of neovascular age-related macular degeneration (AMD) eyes.
Design: Retrospective case series.
Participants: Two hundred forty-three eyes of 243 AMD patients affected by type 1 and type 2 macular neovascularization (MNV).
Importance: ABCA4-associated retinopathy is a common inherited retinal disease, and its phenotype spans from late-onset macular dystrophy to extensive cone-rod degeneration. Over 2000 disease-causing variants in the ABCA4 gene have been identified.
Objective: To investigate genotype-phenotype correlations in ABCA4-associated retinopathy.
Purpose: To describe the alterations of the peripheral retina in extensive macular atrophy with pseudodrusen-like deposits (EMAP) by means of ultrawidefield fundus photography (UWFFP) and ultrawidefield fundus autofluorescence (UWF-FAF).
Study Design: Prospective, observational case series.
Participants: Twenty-three patients affected by EMAP.
Purpose: To analyze fixation location and stability in best vitelliform macular dystrophy (BVMD) and test their association with best-corrected visual acuity (BCVA).
Design: Observational, cross-sectional study.
Participants: Thirty patients (55 eyes) affected by genetically confirmed BVMD were followed up at the Retinal Heredodystrophies Unit of IRCCS San Raffaele Scientific Institute, Milan.
Introduction: Foveal eversion (FE) is a recently described optical coherence tomography (OCT) finding associated with negative outcome in diabetic macular edema. The main goal of the present study was to investigate the role of the FE metric in the diagnostic workup of retinal vein occlusion (RVO).
Methods: This study was a retrospective, observational case series.
Purpose: To study peripheral capillary non-perfusion (PCN-P) in branch retinal vein occlusion (BRVO) by means of ultra wide-field fluorescein angiography (UWFFA), and to correlate its extent and severity with optical coherence tomography (OCT) and OCT-angiography (OCTA) parameters and best corrected visual acuity (BCVA).
Methods: Prospective case series with 2 years of planned follow-up. We recruited patients from June 2019 to December 2019.
Purpose: The development of optical coherence tomography angiography (OCTA) has radically changed the diagnostic assessment of the intraretinal vascular network. Two different OCTA acquisition modalities have recently been introduced in clinical practice, namely high-resolution (HR) and high-speed (HS) scans. HR OCTA requires more acquisition time and provides higher quality data, whereas HS OCTA is faster but furnishes lower quality data.
View Article and Find Full Text PDFPurpose: To propose a noninvasive way of classifying multimodal imaging of retinal microaneurysms (MA) secondary to diabetic retinopathy (DR).
Methods: The research was designed as a cross-sectional, observational study of patients affected by DR. Multimodal imaging included confocal MultiColor imaging, optical coherence tomography (OCT) and OCT angiography (OCTA).
Retinitis pigmentosa (RP) is a group of inherited rod-cone dystrophies, noted for a high genotypical and phenotypical heterogeneity.Traditionally, VA, visual field, and electroretinography have been used to assess RP progression. However, visual acuity and visual field tests are essentially subjective and, especially in the late stages of the disease, are unable to confidently reveal minor progression.
View Article and Find Full Text PDFBackground: Autosomal Recessive Bestrophinopathy (ARB) is an inherited retinal disease caused by biallelic mutations in the gene. Herein, we report the multimodal imaging findings of ARB presenting with cystoid maculopathy and investigate the short-term response to combined systemic and topical carbonic anhydrase inhibitors (CAIs).
Material And Methods: An observational, prospective, case series on two siblings affected by ARB is presented.