Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Purpose: To investigate the prevalence of cystoid macular edema (CME) in relation to the disease-causing genes in a large cohort of genetically defined patients with non-syndromic retinitis pigmentosa (RP).

Methods: Spectral-domain optical coherence tomography (SD-OCT) imaging has been retrospectively reviewed in order to assess the presence of CME over the disease course in a cohort of 580 patients with a clinical and genetic diagnosis of non-syndromic RP.

Results: Over the course of the disease, 179 patients (30.

Orthodontic Management of a Pediatric Patient Affected by Congenital Adrenal Hyperplasia: Case Report.

Introduction: The aim of this study is to report the case of nonclassical congenital adrenal hyperplasia (NCAH) observed in a female child, and to present the management of the surgical-orthodontic rehabilitation, through clinical and histological oral findings.

Method: A 13-year-old female was referred to our department for dental evaluation. The patient was affected by NCAH, confirmed by hormonal and genetic analysis from the age of 6 years, due to the appearance of premature pubic hair.

Italian radiologists and dual-energy CT: a state of the art from a shared document by the computed tomography subspecialty section of the Italian society of radiology.

Objective: The main objective was to assess the geographical distribution and main areas of use of dual-energy CT (DECT) scanners in Italy prior to the implementation of the National Recovery and Resilience Plan (NRRP) within the Next Generation EU (NGEU) framework. Secondary objectives included the level of knowledge of DECT among radiologists and some possible solutions to maximize its use.

Methods: Between February and March 2022, an anonymous questionnaire was conducted among the members of the Italian Society of Medical and Interventional Radiology (SIRM), using the Google form platform.

Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations.

Background: Anatomic features characterizing the onset and progression of Retinitis Pigmentosa (RP) are still not clear and increasing interest has grown towards the impaired retinal flow in such disease. However, to date there are still few and inconsistent data exploring the changes reflected in vascular plexuses during the disease course, in particular regarding Choriocapillaris (CC). Therefore, the purpose of this study aimed at evaluating the CC perfusion in a cohort of males with -related X-Linked RP (XLRP).

Intravaginal prasterone for urinary urgency in postmenopausal women without urodynamic detrusor overactivity.

Objectives: Symptoms of an overactive bladder are frequently reported in women with genitourinary syndrome of menopause. Despite a frequent association with detrusor overactivity, urodynamic assessment does not always reveal this condition, which suggests a leading role for increased bladder mucosal sensitivity due to hormone deprivation in producing urinary symptoms. The present study assessed the effects of intravaginal prasterone on urgency symptoms in those patients receiving treatment for concurrent vulvovaginal atrophy.

A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.

Background: Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal-dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 in four families segregating heterozygous missense mutations in TUBB4B, a gene encoding a β-tubulin isotype. To date, only eight more families with similar TUBB4B-associated sensorineural disease (SND) have been reported.

Photobiomodulation Therapy for Serous Pigment Epithelium Detachment in Chronic Central Serous Chorioretinopathy.

Purpose: To report a case of giant pigment epithelium detachment (PED) secondary to chronic central serous chorioretinopathy (cCSC) successfully treated with photobiomodulation (PBM).

Methods: Case report.

Results: A 55-year-old man complained a worsening of vision in the left eye (LE) over the last 18 months.

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease.

Fluorescein angiography patterns and subretinal hyperreflective material predict subthreshold micropulse laser response in chronic central serous chorioretinopathy.

Background: To investigate predictors of navigated subthreshold micropulse laser (SML) treatment in chronic central serous chorioretinopathy (cCSC).

Methods: In this single-center prospective consecutive case series, patients with cCSC were treated with 577 nm SML and followed up for 12 months. A complete ophthalmological evaluation including spectral optical coherence tomography (SD-OCT), fluorescein angiography (FA) and microperimetry (MP) was performed.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age.

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.

Purpose: We investigated the natural history of retinal dystrophy owing to variants in the MYO7A gene.

Methods: Fifty-three patients (mean age, 33.6 ± 16.

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.

Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the routine application of next-generation sequencing (NGS) approaches such as extensive gene panels or whole exome analyses. Whole-genome sequencing (WGS) has been reported to improve this diagnostic rate by revealing elusive variants, such as structural variants (SVs) and deep intronic variants (DIVs).

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.

How companies navigate circular economy paradoxes: An organizational perspective.

The consideration and implementation by companies of only those circular economy (CE) practices involving economic returns (win-win solutions) is the result of a utopian and reductionist view of the circular transition. A more realistic and holistic perspective toward circular economy (CE) should recognize and embrace the complexities it entails and not be limited to only instrumental solutions. By drawing on the paradox theory, we delve into the conflicting issues that companies encounter in adopting circular initiatives and analyze the role of organizational attributes in the recognition and navigation of CE tensions.

Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice.

Purpose: To assess the efficacy of voretigene neparvovec (VN) treatment by objective fixation stability and chromatic pupillometry testing in clinical practice.

Design: Retrospective cohort study with longitudinal follow-up.

Subjects: Twelve patients (aged 7-34 years) with RPE65-related inherited retinal dystrophies were treated at the same center with VN in both eyes.

Ten Years of Experience With a Telemedicine Platform Dedicated to Health Care Personnel: Implementation Report.

Background: Telemedicine, a term that encompasses several applications and tasks, generally involves the remote management and treatment of patients by physicians. It is known as transversal telemedicine when practiced among health care professionals (HCPs).

Objective: We describe the experience of implementing our telemedicine Eumeda platform for HCPs over the last 10 years.

Navigated yellow subthreshold micropulse laser for refractory cystoid macular edema following rhegmatogenous retinal detachment surgery.

Purpose: To report the efficacy and safety of navigated 577nm yellow subthreshold micropulse laser (YSML) treatment in a case of refractory cystoid macular edema (CME) following combined phaco-vitrectomy for rhegmatogenous retinal detachment (RRD).

Observations: A 69-year-old male patient complained a slow and progressive visual loss in the right eye (RE) since two months. A complete ophthalmological evaluation was performed.

Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.

Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the SGSH gene encoding N-sulfoglucosamine sulfohydrolase, an enzyme involved in the degradation of heparan sulfate. MPS IIIA is typically characterized by neurocognitive decline and hepatosplenomegaly with childhood onset. Here, we report on a 53-year-old male subject initially diagnosed with Usher syndrome for the concurrence of retinitis pigmentosa and sensorineural hearing loss.

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.

Background: Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vision impairment or blindness. IRDs are highly heterogeneous, with often overlapping symptoms among different IRDs, and achieving a definite diagnosis is challenging. This narrative review provides a clinical overview of the non-syndromic generalized photoreceptor dystrophies, particularly retinitis pigmentosa and Leber congenital amaurosis.

Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature.

Inherited retinal diseases (IRDs) are a group of clinically and genetically heterogeneous disorders that may be complicated by several vitreoretinal conditions requiring a surgical approach. Pars plana vitrectomy (PPV) stands as a valuable treatment option in these cases, but its application in eyes with such severely impaired chorioretinal architectures remains controversial. Furthermore, the spreading of gene therapy and the increasing use of retinal prostheses will end up in a marked increase in demand for PPV surgery for IRD patients.

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of a custom blended MITOchondrial-NUCLEAR (MITO-NUCLEAR) assay for the simultaneous identification of genetic variants both in whole mtDNA and in nuclear genes included in a clinic exome panel.

Clinical Applications of Optical Coherence Tomography Angiography in Inherited Retinal Diseases: An Up-to-Date Review of the Literature.

Optical coherence tomography angiography (OCT-A) is a valuable imaging technique, allowing non-invasive, depth-resolved, motion-contrast, high-resolution images of both retinal and choroidal vascular networks. The imaging capabilities of OCT-A have enhanced our understanding of the retinal and choroidal alterations that occur in inherited retinal diseases (IRDs), a group of clinically and genetically heterogeneous disorders that may be complicated by several vascular conditions requiring a prompt diagnosis. In this review, we aimed to comprehensively summarize all clinical applications of OCT-A in the diagnosis and management of IRDs, highlighting significant vascular findings on retinitis pigmentosa, Stargardt disease, choroideremia, Best disease and other less common forms of retinal dystrophies.

Yellow Subthreshold Micropulse Laser in Retinal Diseases: An In-Depth Analysis and Review of the Literature.

Yellow subthreshold micropulse laser (YSML) is a retinal laser capable of inducing a biologic response without causing thermal damage to the targeted tissue. The 577-nm YSML is delivered to the retina abiding by different protocols in which wavelength, power, duration, spot size and number of spots can be properly set to achieve the most effective and safe treatment response in various chorioretinal disorders. The ultrashort trains of power modulate the activation of the retinal pigment epithelium cells and intraretinal cells, such as Müller cells, causing no visible retinal scars.

Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B.

Gene therapy of Usher syndrome type 1B (USH1B) due to mutations in the large () gene is limited by the packaging capacity of adeno-associated viral (AAV) vectors. To overcome this, we have previously developed dual AAV8 vectors which encode human (dual AAV8.).