Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.

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.

Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.

Biallelic mutations in the RPE65 gene affect nearly 8% of Leber Congenital Amaurosis and 2% of Retinitis Pigmentosa cases. Voretigene neparvovec (VN) is the first gene therapy approach approved for their treatment. To date, real life experience has demonstrated functional improvements following VN treatment, which are consistent with the clinical trials outcomes.

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR Genetic Variants.

Sequencing of the low-complexity ORF15 exon of RPGR, a gene correlated with retinitis pigmentosa and cone dystrophy, is difficult to achieve with NGS and Sanger sequencing. False results could lead to the inaccurate annotation of genetic variants in dbSNP and ClinVar databases, tools on which HGMD and Ensembl rely, finally resulting in incorrect genetic variants interpretation. This paper aims to propose PacBio sequencing as a feasible method to correctly detect genetic variants in low-complexity regions, such as the ORF15 exon of RPGR, and interpret their pathogenicity by structural studies.

Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.

Purpose: To investigate the clinical and genotypic differences in the spectrum of ABCA4-associated retinopathies (ABCA4Rs).

Design: Observational, cross sectional case series.

Participants: Sixty-six patients (132 eyes) carrying biallelic ABCA4 variants.

UNVEILING THE HIDDEN: EARLY MANIFESTATIONS OF EXTENSIVE MACULAR ATROPHY WITH PSEUDODRUSEN-LIKE APPEARANCE.

Purpose: To describe novel microperimetry and imaging findings in two patients affected by extensive macular atrophy with pseudodrusen-like appearance without signs of retinal pigment epithelium atrophy.

Methods: Case series. Both patients underwent mesopic and dark-adapted two-color scotopic microperimetry, followed by multimodal imaging assessment including ultra-widefield photography, fundus autofluorescence, high-resolution optical coherence tomography, optical coherence tomography angiography, and high-magnification module.

CORRELATION BETWEEN MICROPERIMETRY AND IMAGING IN EXTENSIVE MACULAR ATROPHY WITH PSEUDODRUSEN-LIKE APPEARANCE.

Purpose: To determine the correlation between microperimetry and imaging findings in extensive macular atrophy with pseudodrusen-like appearance (EMAP).

Methods: This cross-sectional, observational study included 44 consecutive patients with EMAP (88 eyes) and 30 healthy subjects (60 eyes). Both groups underwent visual acuity assessment, mesopic and scotopic microperimetry, fundus photography, autofluorescence, optical coherence tomography, and optical coherence tomography angiography.

MULTIMODAL RETINAL IMAGING REVEALS NEW PATHOGENIC INSIGHTS IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY: A CASE SERIES.

Purpose: To describe novel imaging findings in a family affected by central areolar choroidal dystrophy.

Methods: Case series with multimodal retinal imaging assessment.

Results: A 19-year-old asymptomatic woman was referred for bilateral macular defects of the retinal pigment epithelium.

NATURAL COURSE AND CLASSIFICATION OF EXTENSIVE MACULAR ATROPHY WITH PSEUDODRUSEN-LIKE APPEARANCE.

Purpose: To describe the imaging characteristics and topographic expansion of retinal pigment epithelium (RPE) and outer retinal atrophy in extensive macular atrophy with pseudodrusen-like appearance.

Methods: Three-year, prospective, observational study. Nine patients with extensive macular atrophy with pseudodrusen-like appearance (17 eyes; 6 women) with no other ocular conditions were annually examined; one eye was excluded because of macular neovascularization.

Multimodal retinal imaging of m.3243A>G associated retinopathy.

Retro-mode illumination imaging can provide good visualization of chorio-retinal atrophy and of the retinal pigment epithelial alterations occurring in m.3243A > G associated retinopathy.

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.

Purpose: To investigate the course of inherited retinal degenerations (IRD) due to mutations in the RPE65 gene.

Methods: This longitudinal multicentric retrospective chart-review study was designed to collect best corrected visual acuity (BCVA), Goldman visual field, optical coherence tomography (OCT), and electroretinography (ERG) measurements. The data, including imaging, were collected using an electronic clinical research form and were reviewed at a single center to improve consistency.

Progression of Atrophy and Visual Outcomes in Extensive Macular Atrophy with Pseudodrusen-like Appearance.

Purpose: To report visual outcomes and rate of retinal pigment epithelium (RPE) atrophy progression in patients with extensive macular atrophy with pseudodrusen-like appearance (EMAP).

Design: Retrospective, observational study.

Participants: Patients with EMAP and symptom onset before 55 years of age, at least 12 months of follow-up using Spectralis blue-light fundus autofluorescence (BAF) and OCT and with no other ocular or systemic conditions.

Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome.

: Syndromic ciliopathies have been variably linked to different retinal dystrophies. However, to date, few reports have characterized by means of multimodal imaging the retinal degeneration occurring in Mainzer-Saldino syndrome (MSS).: Two siblings with history of kidney disease and other systemic abnormalities presented at our eye clinic in October 2017 complaining of night blindness and visual loss.

RPGR-Related X-Linked Retinitis Pigmentosa Carriers with a Severe "Male Pattern".

Background: X-linked retinitis pigmentosa (XLRP) due to mutations in the RPGR gene is a very severe form of RP, resulting in rapid disease progression and retinal dysfunction. Female carriers do not usually report symptoms. However, it has reported that carriers of XLRP can have a significant visual and retinal impairment.

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.

Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation clinical trial for X-linked RP caused by mutations in the RP GTPase regulator (RPGR) gene in 18 patients over up to 6 months of follow-up (https://clinicaltrials.gov/: NCT03116113).

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.

Background: Best vitelliform macular dystrophy (BVMD) is an autosomal dominant macular degeneration. The typical central yellowish yolk-like lesion usually appears in childhood and gradually worsens. Most cases are caused by variants in the BEST1 gene which encodes bestrophin-1, an integral membrane protein found primarily in the retinal pigment epithelium.

A Randomized Crossover Study to Assess the Usability of Two New Vision Tests in Patients with Low Vision.

Significance: Well-established charts such as Early Treatment Diabetic Retinopathy Study are able to quantify visual acuity (VA) with a low cutoff of 1.6 logMAR. Below this point, nonquantitative measures, such as count fingers, hand movements, and light perception, are used.

Near-Infrared Autofluorescence in Choroideremia: Anatomic and Functional Correlations.

Purpose: To investigate near-infrared fundus autofluorescence (NIR-AF) characteristics in patients with choroideremia and to correlate these with anatomic and functional parameters.

Design: Retrospective, observational case series.

Methods: In this multicenter study, 43 consecutive choroideremia patients (79 eyes) underwent multimodal retinal imaging, including near-infrared fundus autofluorescence (NIR-AF), blue autofluorescence (B-AF), optical coherence tomography (OCT), fundus photography, and functional testing including fundus-controlled microperimetry.

Gene therapy for the treatment of X-linked retinitis pigmentosa.

Introduction: X-linked retinitis pigmentosa caused by mutations in the () gene is the most common form of recessive RP. The phenotype is characterised by its severity and rapid disease progression. Gene therapy using adeno-associated viral vectors is currently the most promising therapeutic approach.