The interplay between sodium/glucose cotransporter type 2 and mitochondrial ionic environment.

Mitochondrial volume is maintained through the permeability of the inner mitochondrial membrane by a specific aquaporin and the osmotic balance between the mitochondrial matrix and cellular cytoplasm. Various electrolytes, such as calcium and hydrogen ions, potassium, and sodium, as well as other osmotic substances, affect the swelling of mitochondria. Intracellular glucose levels may also affect mitochondrial swelling, although the relationship between mitochondrial ion homeostasis and intracellular glucose is poorly understood.

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.

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.

Multimodal Assessment of the Prognostic Role of Ectopic Inner Foveal Layers on Epiretinal Membrane Surgery.

Background: To perform a multimodal assessment of the ectopic inner foveal layers' (EIFL) prognostic role on idiopathic epiretinal membrane (ERM) surgery.

Methods: We retrospectively followed-up for 12 months 27 patients who underwent ERM surgery and stratified them based on EIFL presence (group 1) or absence (group 2) at baseline. Central Retinal Thickness (CRT) and best-corrected visual acuity (BCVA) were compared pre- and post-operatively at 1, 4 and 12 months, whereas fixation stability (FS), macular sensitivity (MS) and multifocal electroretinogram (mfERG) responses were confronted at baseline and 12 months.

Wall Tension and Tubular Resistance in Kidney Cystic Conditions.

The progressive formation of single or multiple cysts accompanies several renal diseases. Specifically, (i) genetic forms, such as adult dominant polycystic kidney disease (ADPKD), and (ii) acquired cystic kidney disease (ACKD) are probably the most frequent forms of cystic diseases. Adult dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by multiple kidney cysts and systemic alterations.

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.

To report quantitative retinal changes assessed by spectral-domain optical coherence tomography (SD-OCT) in children treated with voretigene neparvovec (VN) at a single center in Italy. Retrospective review of six consecutive pediatric patients with biallelic RPE65-related dystrophy treated bilaterally with VN. SD-OCT scans were analyzed to extract Early Treatment Diabetic Retinopathy Study (ETDRS) thickness maps of the whole retina and the outer nuclear layer (ONL).

Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients.

Purpose: To present visual outcomes of the first two Italian patients with RPE65-related inherited retinal dystrophy (RPE65-IRD) treated with voretigene neparvovec (VN).

Methods: Two pediatric patients with RPE65-IRD were treated with VN in both eyes. Patients were evaluated by best-corrected visual acuity (BCVA), full-field stimulus threshold (FST) test, semiautomated kinetic visual field (SKVF), microperimetry, and chromatic pupillometry over 6 months.

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.

Background: This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec.

Methods: An expert steering committee comprising an interdisciplinary panel of Italian experts in the three fields of medical specialisation involved in the management of RPE65-associated inherited retinal disease (IRD) (medical retina, genetics, vitreoretinal surgery) proposed clinical questions necessary to determine the correct identification of patients with the disease, determine the fundamental clinical and genetics tests to reach the correct diagnosis and to evaluate the urgency to treat patients eligible to receive treatment with voretigene neparvovec. Supported by an extensive review of the literature, a series of statements were developed and refined to prepare precisely constructed questionnaires that were circulated among an external panel of experts comprising ophthalmologists (retina specialists, vitreoretinal surgeons) and geneticists with extensive experience in IRDs in Italy in a two-round Delphi process.

Functional improvement assessed by multifocal electroretinogram after Ocriplasmin treatment for vitreomacular traction.

Background: To evaluate the functional recovery of patients with symptomatic vitreomacular traction (VMT) after Ocriplasmin treatment.

Methods: Prospective, single centre, consecutive case series. Patients were treated with a single intravitreal injection of Ocriplasmin (Jetrea, Thrombogenics Inc, USA, Alcon/Novartis EU).

Ocriplasmin use in a selected case with preserved visual acuity.

Background: Previous studies described cases of Ocriplasmin injections in patients with vitreo-macular traction and reduced central visual acuity. We describe the first case of a patient with 20/20 visual acuity and vitreo-macular traction treated with Ocriplasmin, and, for the first time in literature, we evaluated the functional changes of the macula in response to pharmacological treatment through multifocal-electroretinogram.

Case Presentation: We report the case of a female Caucasian patient aged 67 years with vitreo-macular traction in the right eye, treated with Ocriplasmin, at the Eye Clinic of the Second University of Naples.

Macular abnormalities in Italian patients with retinitis pigmentosa.

Aim: To investigate the prevalence of macular abnormalities in a large Caucasian cohort of patients affected by retinitis pigmentosa (RP).

Methods: A retrospective study was performed by reviewing the medical records and optical coherence tomography (OCT) scans in a cohort of 581 RP patients in order to assess the presence of macular abnormalities -that is, cystoid macular oedema (CMO), epiretinal membrane (ERM), vitreo-macular traction syndrome, and macular hole.

Results: Macular abnormalities were observed in 524 (45.

Combined rod and cone transduction by adeno-associated virus 2/8.

Gene transfer to both cone and rod photoreceptors (PRs) is essential for gene therapy of inherited retinal degenerations that are caused by mutations in genes expressed in both PR types. Vectors based on the adeno-associated virus (AAV) efficiently transduce PRs of different species. However, these are predominantly rods and little is known about the ability of the AAV to transduce cones in combination with rods.

Recombinant vectors based on porcine adeno-associated viral serotypes transduce the murine and pig retina.

Recombinant adeno-associated viral (AAV) vectors are known to safely and efficiently transduce the retina. Among the various AAV serotypes available, AAV2/5 and 2/8 are the most effective for gene transfer to photoreceptors (PR), which are the most relevant targets for gene therapy of inherited retinal degenerations. However, the search for novel AAV serotypes with improved PR transduction is ongoing.

Adult-onset cyclic esotropia: a case report.

Purpose: This case report presents the diagnosis and management of an adult patient with cyclic esotropia, a rare and poorly understood form of strabismus, that is characterized by alternating periods of manifest strabismus and orthotropia. Few cases of adult-onset cyclic strabismus have been reported. The etiology, pathogenesis, and treatment for this condition are reviewed.

Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation.

Purpose: To report on 4 patients affected by Stargardt's disease (STGD) with fundus flavimaculatus (FFM) and ABCA4 gene mutation associated with subretinal fibrosis.

Methods: Four patients with a diagnosis of STGD were clinically examined. All 4 cases underwent a full ophthalmologic evaluation, including best-corrected visual acuity measured by the Snellen visual chart, biomicroscopic examination, fundus examination, fundus photography, electroretinogram, microperimetry, optical coherence tomography and fundus autofluorescence.

Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.

Purpose: To perform a clinical characterization of Stargardt patients with ABCA4 gene mutation, and to investigate the correlation between the inner and outer segment (IS/OS) junction morphology and visual acuity, fundus lesions, electroretinogram abnormalities, and macular sensitivity.

Methods: Sixty-one patients with Stargardt disease (STGD) were given a comprehensive ophthalmic examination. Inner-outer photoreceptor junction morphology evaluated by spectral-domain optical coherence tomography was correlated with visual acuity, fundus lesions, fundus autofluorescence, full-field and multifocal electroretinography responses, and microperimetric macular sensitivities.

The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.

Background: Oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair, skin and eyes. Ocular signs associated with the disease are nystagmus, decreased visual acuity, hypopigmentation of the retina, foveal hypoplasia, translucency of the iris, macular transparency, photophobia and abnormal decussation of nerve fibers at the chiasm.

Case Report: An 8-year-old Caucasian girl presented to our clinic 'Referral Center for Hereditary Retinopathies' of the Second University of Naples with a diagnosis of Stargardt disease and a progressive reduction in visual acuity in both eyes.

MicroRNA-restricted transgene expression in the retina.

Background: Gene transfer using adeno-associated viral (AAV) vectors has been successfully applied in the retina for the treatment of inherited retinal dystrophies. Recently, microRNAs have been exploited to fine-tune transgene expression improving therapeutic outcomes. Here we evaluated the ability of retinal-expressed microRNAs to restrict AAV-mediated transgene expression to specific retinal cell types that represent the main targets of common inherited blinding conditions.

Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.

Purpose: To evaluate the suitability of gene delivery-based approaches as potential treatment of Leber congenital amaurosis 4 (LCA4) due to AIPL1 mutations.

Methods: Genomic DNA from patients was analyzed using a microarray chip and direct sequencing. A detailed clinical evaluation including fundus autofluorescence (FAF) and optical coherence tomography (OCT) was performed in patients with AIPL1 mutations.

An atypical form of Bietti crystalline dystrophy.

Purpose: To describe clinical and functional features of a patient with Bietti crystalline dystrophy and atypical electroretinogram responses.

Methods: The patient underwent a thorough medical anamnesis, genetic counseling, peripheral blood draw for CYP4V2 gene analysis and electron microscopy, and a complete ophthalmological assessment including optical coherence tomography, indocyanine green angiography, microperimetry, full-field electroretinogram and multifocal electroretinogram.

Results: The most striking features of the retina were deposits of yellowish-white glistening crystals and focal lobular areas of choriocapillary atrophy at the posterior pole and midperiphery.

Intravitreal bevacizumab for treatment-naive patients with subfoveal occult choroidal neovascularization secondary to age-related macular degeneration: a 12-month follow-up study.

Purpose: The aim of this study was to assess the 12-month efficacy of intravitreal bevacizumab (IVB) injection for occult choroidal neovascularization secondary to age-related macular degeneration.

Methods: In this retrospective, interventional case series, 68 treatment-naïve patients with age-related macular degeneration, affected by subfoveal occult choroidal neovascularization showing recent disease progression, were monitored during the IVB protocol. The patients received 1 initial IVB injection (1.

AAV-mediated tyrosinase gene transfer restores melanogenesis and retinal function in a model of oculo-cutaneous albinism type I (OCA1).

Oculo-cutaneous albinism type 1 (OCA1) is characterized by congenital hypopigmentation and is due to mutations in the TYROSINASE gene (TYR). In this study, we have characterized the morpho-functional consequences of the lack of tyrosinase activity in the spontaneous null mouse model of OCA1 (Tyr(c-2j)). Here, we show that adult Tyr(c-2j) mice have several retinal functional anomalies associated with photoreceptor loss.

Changes in neovascular choroidal morphology after intravitreal bevacizumab injection: prospective trial on 156 eyes throughout 12-month follow-up.

Background: To report 12-month follow-up results of 156 eyes treated with anti-VEGF for subfoveal choroidal neovascularization (CNV) secondary to age-related macular degeneration, and to verify the efficacy of this treatment in terms of functional results and changes of morphology of choroidal membrane for the different types of choroidal neovascularization analyzed.

Methods: This prospective case series study included subjects with different forms of subfoveal CNV. After the first intravitreal injection of 1.

Intravitreal bevacizumab (Avastin) injection for neovascular glaucoma: a survey on 23 cases throughout 12-month follow-up.

Aims: Neovascular glaucoma (NVG) represents one of the most severe forms of secondary glaucoma, caused by a number of ocular and systemic conditions, which share the common element of retinal ischaemia/hypoxia that initiates the subsequent release of angiogenesis factors, with consequent development of new abnormal vessels through the ciliary body. The aim was to examine the potential efficacy and safety of intravitreal injection of bevacizumab (IVB) (Avastin) in the treatment of NVG in patients who had already undergone the standard retinal ablative procedure.

Methods: This was a prospective pilot trial.