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Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.

PURPOSE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous l … ed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were o …

Intrafamilial heterogeneity of congenital optic disc pit maculopathy.

BACKGROUND: Optic disc pit is a very rare clinical entity. The main complication of this condition is the maculopathy. Report of cases: A 40-year-old Caucasian man and his 6-year-old daughter underwent a complete ophthalmological examination. In both cases ophthalmoscopy examination showed a bilateral white-yellow oval depression in the optic disc. Optical coherence tomography showed maculopathy with different degrees of severity in the two cases. Microperimetry and multifocal-electroretinography showed different degrees of retinal dysfunction in both cases. Molecular genetic analysis was perf

Microincision vitrectomy surgery for myopic foveoschisis.

OBJECTIVE: To evaluate the technical feasibility and surgical outcome of microincision vitrectomy surgery (MIVS) in patients with myopic foveoschisis (MF). METHODS: In total, 33 eyes of 29 patients who underwent surgical intervention due to MF were included. The patients were diagnosed with MF by spectral-domain optical coherence tomography (SD-OCT) and followed up for 6 months after MIVS that included internal limiting membrane (ILM) peeling with or without intraocular gas tamponade. To identify factors affecting visual outcome, the best-corrected visual acuity, axial length, and SD-OCT find

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.

PURPOSE: To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen. DESIGN: Observational case report. METHODS: Three affected subjects and one healthy sibling from a consanguineous marriage from Spain were studied. Complete ophthalmologic examinations including A- and B-mode ultrasonography (US), electroretinography (ERG), fluorescein retinal angiography (FA), and optical coherence tomography (OCT) were performed in each individual

Fovea-sparing internal limiting membrane peeling versus complete internal limiting membrane peeling for myopic traction maculopathy.

PURPOSE: To compare the outcomes of vitrectomy with fovea-sparing internal limiting membrane peeling (FSIP) and complete internal limiting membrane peeling (ILMP) for myopic traction maculopathy (MTM). STUDY DESIGN: A retrospective, observational study. PATIENTS AND METHODS: In this study, we included 22 eyes of 21 consecutive patients who underwent vitrectomy with FSIP or ILMP for MTM and were monitored for at least 6 months. Eleven eyes were treated with FSIP, and 11, with ILMP. RESULTS: With FSIP, the postoperative best-corrected visual acuity (BCVA) significantly improved from 0.61 (20/

INDICATIONS AND RESULTS OF A NEW L-SHAPED MACULAR BUCKLE TO SUPPORT A POSTERIOR STAPHYLOMA IN HIGH MYOPIA.

BACKGROUND: The efficacy of a macular buckle in treating myopic traction maculopathy was studied. METHODS: Fifty eyes with myopic traction maculopathy, in the form of macular detachment with macular hole (MHMD), or without macular hole (MD) and macular foveoschisis (MF), were treated with vitrectomy combined with macular buckle or with a macular buckle without vitrectomy. RESULTS: Combined group: The combined group comprised 10 eyes with MHMD, 6 eyes with MD, and 4 eyes with MF. The retina was attached in 100% of MD and MHMD and the MF was improved in 100% of cases. The hole was closed in 60

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region. METHODS: An Omani family with three siblings dia

Perifoveal vitreous detachment and its macular complications.

PURPOSE: To evaluate the vitreoretinal relationship in eyes with idiopathic macular disorders putatively caused by vitreomacular traction associated with early stages of age-related posterior vitreous detachment (PVD). METHODS: Retrospective observational case series of 43 eyes of 40 patients diagnosed with one of several idiopathic vitreomacular conditions. Included patients had no biomicroscopic evidence for complete PVD on presentation and underwent a specific clinical assessment of the vitreoretinal relationship. Affected eyes were evaluated with slit-lamp biomicroscopy, B-scan ultrasonog

Electronegative electroretinography in inherited retinal disease: a systematic review of genotype-phenotype correlations.

BACKGROUND: The electronegative electroretinogram (ERG)-in which the dark-adapted bright-flash b-wave amplitude falls below the a-wave (b: a … g congenital stationary night blindness (NYX, CACNA1F, TRPM1, GRM6, GPR179, CABP4, LRIT3), X-linked retinoschisis (RS1), and cone dystrophy with supernormal rod responses (KCNV2). Electronegative ERG patterns were commonly described across the CSNB and XLRS literature, with the greatest consistency for complete CSNB and KCNV2. Structural imaging correlates show …

Двусторонний спонтанный диализ сетчатки в промежуточном увейтете, связанном с множественным склерозом: необычный случай.

ЦЕЛЬ: Сообщить о случае регматального сетчатого отсека (RRD), вызванного спонтанным диализом сетчатки в промежуточном увейтете из-за множественного склероза (MS). ЗАМЕЧАНИЯ: 29-летняя женщина из Ближнего Востока получила диагноз MS после случая двустороннего промежуточного увеита. Позже она представила последовательность RRD в обоих глазах. Пациент перенёс 25-футовый план витректомию. Внезапно был отмечен диализ сетчатки из-за тяги на витроусовой базе. Было также отмечено, что из-за ишемии утонченная сетчатка позвоночника. Постактивно, она восстановила свою зрительную привлекательность в обоих

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… Jalil et al. reported a case series of 11 eyes of 7 patients, in whom IU was associated with inferior peripheral retinal elevation, being either retinoschisis or tractional retinal detachment and probably caused by radial traction exhibited by pars plana gliosis. …

[New examination methods for macular disorders--application of diagnosis and treatment].

To establish a diagnosis or evaluate the efficacy of treatment for macular disorders, we need methods to evaluate the anatomical and functio … nt. Examination with the OCT allows confirmation of the retinal cross-sectional structures, such as retinoschisis or cystoid spaces and the vitreomacular interface, such as vitreous traction, that cannot be detected using other conventional methods with high resolution, but high reflectivity from dense hemorrhages obscured the deeper layers of the retinal struc …

Gene therapy: principles, challenges and use in clinical practice.

INTRODUCTION: Gene therapy is an emerging topic in medicine. The first products have already been licensed in the European Union for the treatment of immune deficiency, spinal muscular atrophy, hemophilia, retinal dystrophy, a rare neurotransmitter disorder and some hematological cancers, while many more are being assessed in preclinical and clinical trials. OBJECTIVE: The purpose of this review is to provide an overview of the core principles of gene therapy along with information on challenges and risks. Benefits, adverse effects and potential risks are illustrated based on the examples of

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… approved in the treatment of hemophilia A and B, neuromuscular disorders (e.g., spinal muscular atrophy, Duchenne muscular dystrophy) and various types of inherited blindness (e.g., RPE65 mutation-associated retinal dystrophy, achromatopsia, choroideremia, Leber’s hereditary optic neuropathy, X‑linked retinoschisis …

Revolutionizing in vivo therapy with CRISPR/Cas genome editing: breakthroughs, opportunities and challenges.

Genome editing using the CRISPR/Cas system has revolutionized the field of genetic engineering, offering unprecedented opportunities for therapeutic applications in vivo. Despite the numerous ongoing clinical trials focusing on ex vivo genome editing, recent studies emphasize the therapeutic promise of in vivo gene editing using CRISPR/Cas technology. However, it is worth noting that the complete attainment of the inherent capabilities of in vivo therapy in humans is yet to be accomplished. Before the full realization of in vivo therapeutic potential, it is crucial to achieve enhanced specific

Advances in Drug Delivery and Biomaterials: Facts and Vision.

Drug delivery and biomaterials are different fields of science but, at the same time, are tightly related and intertwined. The 2018 CRS Italy Chapter Annual Workshop aims to explore recent advances in design and development in these areas. Many colleagues from Europe participated to the Workshop, stimulating the discussion. To foster the discussion on recent research and networking opportunities, especially among younger attendees, all poster-presenting authors were asked to provide a short talk. The very friendly and stimulating atmosphere allowed the attendees to explore new frontiers and ta

Advances in nanomaterial-mediated CRISPR/Cas delivery: from lipid nanoparticles to vesicle-derived systems.

Gene and genome editing therapies are increasingly connected with nanomaterials, which protect and transport fragile nucleic acids and CRISPR/Cas systems through biological barriers safely and accurately. This review discusses how different nanocarriers, including lipid-based, polymeric, inorganic, and vesicle-derived systems, can improve delivery efficiency, cell targeting, endosomal escape, and intracellular movement for gene and genome editing. It summarizes findings from early clinical and preclinical studies, comparing several carrier types such as ionizable lipid nanoparticles, polymeric

Abstracts - IANCON 2024

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Proceedings of the 27th European Paediatric Rheumatology Congress (PReS 2021) : Virtual. 19-21 September 2021

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Ход работы сессии 28th Европейский конгресс педиатрической ремуматологии (ПСР) 2022) Прага, Чешская Республика. 20-23 сентябрь 2022.

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Резюме докладов 53rd Конференция Европейского общества генетики человека: интерактивные электронные постеры.

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