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2.
Exp Eye Res ; 242: 109872, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38514024

RESUMEN

X-linked retinoschisis (XLRS) is an early onset degenerative retinal disease characterized by cystic lesions in the middle layers of the retina. These structural changes are accompanied by a loss of visual acuity and decreased contrast sensitivity. XLRS is caused by mutations in the gene Rs1 which encodes the secreted protein Retinoschisin 1. Young Rs1-mutant mouse models develop key hallmarks of XLRS including intraretinal schisis and abnormal electroretinograms. The electroretinogram (ERG) comprises activity of multiple cellular generators, and it is not known how and when each of these is impacted in Rs1 mutant mice. Here we use an ex vivo ERG system and pharmacological blockade to determine how ERG components generated by photoreceptors, ON-bipolar, and Müller glial cells are impacted in Rs1 mutants and to determine the time course of these changes. We report that ERG abnormalities begin near eye-opening and that all ERG components are involved.


Asunto(s)
Moléculas de Adhesión Celular , Modelos Animales de Enfermedad , Electrorretinografía , Proteínas del Ojo , Retinosquisis , Animales , Retinosquisis/genética , Retinosquisis/fisiopatología , Ratones , Proteínas del Ojo/genética , Proteínas del Ojo/metabolismo , Células Fotorreceptoras de Vertebrados/patología , Ratones Endogámicos C57BL , Mutación , Células Ependimogliales/patología , Células Ependimogliales/metabolismo , Masculino , Células Bipolares de la Retina/patología , Células Bipolares de la Retina/metabolismo
3.
Sci Rep ; 14(1): 5246, 2024 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-38438406

RESUMEN

We evaluated the distribution and types of retinal hemorrhages (RHs) and other damages in eyes with abusive head trauma (AHT). This retrospective, consecutive case series of AHT and non-AHT conditions involved 54 children with AHT, 43 children with head bruises, and 49 children with blunt eye trauma, each of non-AHT supported by reliable witness accounts. RHs and other damage were evaluated using ophthalmoscopy and wide-field fundus photography. A variety of RH types and other damage were identified in the AHT group but not in the non-AHT group. RHs in AHT extended from the posterior pole to the far periphery in 77% of eyes and on/near the veins in 86% and arteries in 85%, most of which were in the far periphery. Retinoschisis, white-dot lesions, and retinal folds were seen even in the far periphery. RHs on/near the veins and arteries, retinoschisis, and retinal folds suggest a traumatic mechanism of the tractional force of the vitreous that is attached to the entire retinal surface. Identifying the distribution and arterio and venous origins of RHs is a key factor in determining the association with trauma. Thus, wide-field fundus photography is useful to record and evaluate the origin of the RHs and other retinal damage.


Asunto(s)
Traumatismos Craneocerebrales , Lesiones Oculares , Enfermedades de la Retina , Retinosquisis , Niño , Humanos , Hemorragia Retiniana/diagnóstico por imagen , Hemorragia Retiniana/etiología , Estudios Retrospectivos , Traumatismos Craneocerebrales/complicaciones , Traumatismos Craneocerebrales/diagnóstico por imagen , Retina
4.
Zhonghua Yan Ke Za Zhi ; 60(3): 234-241, 2024 Mar 11.
Artículo en Chino | MEDLINE | ID: mdl-38462371

RESUMEN

Objective: To investigate the efficacy of pars plana vitrectomy (PPV) without intraocular tamponade in the treatment of high myopic eyes with myopic foveoschisis (MF) accompanied by foveal detachment (FD). Methods: A retrospective case series study was conducted. The medical records of patients diagnosed with unilateral MF accompanied by FD at the Eye & ENT Hospital of Fudan University between May 2018 and December 2021 were collected. All patients underwent 23-gauge PPV with posterior vitreous cortex clearance, and no intraocular tamponade was applied. The cases were divided into groups based on whether the internal limiting membrane was peeled during surgery or retained. Follow-up was conducted for at least 12 months. The main outcome measures included postoperative best-corrected visual acuity (BCVA, converted to logarithm of the minimum angle of resolution), central foveal thickness (CFT), MF resolution, and complications. Statistical analyses were performed using t-tests, chi-square tests, Fisher's exact tests, and univariate and multivariate linear regression. Results: A total of 40 patients (40 eyes) with MF and FD were included in the study, with 30.0% being male and 70.0% female. The mean age was (56.9±11.7) years, and the axial length of the eyes was (29.1±1.9) mm. At 12 months postoperatively, BCVA improved from baseline 1.15±0.58 to 0.73±0.39 (t=6.11, P<0.001), and CFT decreased from baseline (610.1±207.2) µm to (155.9±104.1) µm (t=13.47, P<0.001). Complete resolution of MF with foveal reattachment was observed in 80.0% of eyes, with a median time of 6 (5, 8) months. There was no significant difference in BCVA and CFT between the internal limiting membrane peeled group and retained group [0.68±0.39 vs. 0.79±0.40, t=0.85, P=0.403; (148.3±63.8)vs.(164.3±137.2)um,t=0.48, P=0.634]. One eye experienced macular hole and another eye developed retinal detachment postoperatively. Correlation analysis showed a positive correlation between BCVA at 12 months postoperatively and baseline BCVA (ß=0.433, P<0.001). Conclusions: Pars plana vitrectomy without intraocular tamponade is effective in treating MF accompanied by FD. The choice between internal limiting membrane peeling and retention does not significantly affect visual prognosis.


Asunto(s)
Miopía Degenerativa , Desprendimiento de Retina , Perforaciones de la Retina , Retinosquisis , Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Vitrectomía , Miopía Degenerativa/cirugía , Miopía Degenerativa/complicaciones , Estudios Retrospectivos , Retinosquisis/cirugía , Retinosquisis/diagnóstico , Retinosquisis/etiología , Tomografía de Coherencia Óptica , Membrana Basal/cirugía , Agudeza Visual , Desprendimiento de Retina/cirugía , Perforaciones de la Retina/cirugía
5.
Zhonghua Yan Ke Za Zhi ; 60(3): 211-214, 2024 Mar 11.
Artículo en Chino | MEDLINE | ID: mdl-38462367

RESUMEN

Myopic maculopathy is the primary cause of irreversible visual impairment in patients with pathologic myopia, and myopic traction maculopathy often requires vitrectomy for treatment. Myopic traction maculopathy encompasses epiretinal membrane, foveoschisis, macular hole, and macular hole-related retinal detachment. It is recommended to perform vitrectomy combined with inner limiting membrane peeling for Type II epiretinal membrane, foveal-sparing inner limiting membrane peeling for foveoschisis, inverted inner limiting membrane flap technique for macular hole, and vitrectomy combined with macular buckle for refractory macular hole-related retinal detachment. Myopic traction maculopathy is a chronically progressive condition, and surgeons need to accurately determine the timing of surgery and choose appropriate procedures to maximize the benefits for patients.


Asunto(s)
Membrana Epirretinal , Degeneración Macular , Miopía Degenerativa , Desprendimiento de Retina , Perforaciones de la Retina , Retinosquisis , Humanos , Desprendimiento de Retina/etiología , Perforaciones de la Retina/cirugía , Membrana Epirretinal/cirugía , Vitrectomía/métodos , Tracción/efectos adversos , Miopía Degenerativa/complicaciones , Miopía Degenerativa/cirugía , Agudeza Visual , Retinosquisis/complicaciones , Retinosquisis/cirugía , Tomografía de Coherencia Óptica/métodos , Estudios Retrospectivos
6.
Int J Mol Sci ; 25(5)2024 Mar 02.
Artículo en Inglés | MEDLINE | ID: mdl-38474172

RESUMEN

Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C>T) in exon 35 of the CACNA1F gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of CACNA1F-related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype-phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors.


Asunto(s)
Albinismo Ocular , Enfermedades Hereditarias del Ojo , Enfermedades Genéticas Ligadas al Cromosoma X , Miopía , Ceguera Nocturna , Enfermedades de la Retina , Retinitis Pigmentosa , Retinosquisis , Masculino , Humanos , Preescolar , Lactante , Persona de Mediana Edad , Canales de Calcio Tipo L/metabolismo , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Retina/metabolismo , Mutación
7.
Medicine (Baltimore) ; 103(13): e37620, 2024 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-38552087

RESUMEN

INTRODUCTION: Retinal cysts are rare lesions of the fundus that are essentially fluid-filled cavities located or originating in the retina, with a diameter larger than the normal retinal thickness. To date, there have been few case reports of giant retinal cyst hemorrhage with retinoschisis. CASE PRESENTATION: A 32-year-old woman with no other medical history complained of decreased vision for 3 days after a severe cough. The best-corrected visual acuity in the right eye was 0.5. A comprehensive ophthalmological examination including slit-lamp fundoscopy, ultrasound scan of the eye, optical coherence tomography scan, and orbital magnetic resonance imaging was performed. Ophthalmological examination revealed grade III anterior chamber blood cells and grade III vitreous hemorrhage in the right eye and a large herpetic cyst on the nasal side of the retina. The cyst projected into the vitreous, with a large amount of hemorrhage vaguely visible within it. The cyst was clearly visible, and a superficial retinal limiting detachment was observed around it. Ultrasound showed a retinal cyst with retinal detachment in the right eye. Laboratory test results were unremarkable. After 3 months of conservative treatment, the patient's intracystic hemorrhage was significantly absorbed, but the size of the cyst cavity did not show any significant change. Scleral buckling with external compression combined with external drainage of the intracystic fluid was performed, the patient's visual acuity was gradually restored to a normal 1.0 after the operation, and the retina appeared flattened. The patient was finally diagnosed with a giant retinal cyst with retinoschisis in the right eye. The presumed cause was heavy coughing leading to rupture and hemorrhage of the retinal cyst, similar to the mechanism of rupture of an arterial dissection. To the best of our knowledge, this case of retinal cyst rupture and hemorrhage caused by heavy coughing with good recovery after external surgical treatment has never been reported before. CONCLUSIONS: Giant cystic retinal hemorrhage with retinoschisis is very rare. Orbital magnetic resonance imaging and ocular B-scan ultrasound are essential for its diagnosis, and the selection of an appropriate surgical procedure is necessary to maximize the benefit for affected patients.


Asunto(s)
Quistes , Desprendimiento de Retina , Retinosquisis , Femenino , Humanos , Adulto , Curvatura de la Esclerótica/métodos , Retinosquisis/complicaciones , Retinosquisis/cirugía , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Desprendimiento de Retina/diagnóstico , Hemorragia Vítrea/etiología , Hemorragia Retiniana/complicaciones , Quistes/complicaciones , Quistes/cirugía
8.
Invest Ophthalmol Vis Sci ; 65(2): 17, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38324300

RESUMEN

Purpose: This study investigated a three-dimensional indicator in spectral-domain optical coherence tomography (SD-OCT) and established phenotype-genotype correlation in X-linked retinoschisis (XLRS). Methods: Thirty-seven patients with XLRS underwent comprehensive ophthalmic examinations, including visual acuity (VA), fundus examination, electroretinogram (ERG), and SD-OCT. SD-OCT parameters of central foveal thickness (CFT), cyst cavity volume (CCV), and photoreceptor outer segment length were assessed. CCV was defined as the sum of the areas of cyst cavities in uential B-scans, measured automatically by self-developed software (OCT-CCSEG). Structural changes of the protein associated with missense variants were quantified by molecular dynamics (MD). The correlation between genotype and phenotype was analyzed. Results: Twenty-seven different RS1 variants were identified, including a novel variant c.336_337insT(p.L113Sfs*8). The average age of onset was 14.76 ± 15.75 years, and the mean VA was 0.84 ± 0.43 logMAR. The mean CCV was 1.69 ± 1.87 mm3, correlating significantly with CFT (R = 0.66; P < 0.01). In the genotype-phenotype analysis of missense variants, CCV significantly correlated with the structural effect on the protein of mutational changes referred to as wild type, including root-mean-square deviation (R = 0.34; P = 0.04), solvent accessible surface area (R = 0.38; P = 0.02), and surface hydrophobic area (R = 0.37; P = 0.03). The amplitude of scotopic 3.0 ERG a-waves and b-waves significantly correlated with the percentage change of the ß-strand in the secondary structure (a-wave: R = -0.58, P < 0.01; b-wave: R = -0.53, P < 0.01). Conclusions: CCV is a promising indicator to quantify the structural disorganization of XLRS retina. The OCT-CCSEG software calculated CCV automatically, potentially facilitating prognosis assessment and development of personalized treatment. Moreover, MD-involved genotype-phenotype analysis suggests an association between protein structural alterations and XLRS severity measured by CCV and ERG.


Asunto(s)
Quistes , Retinosquisis , Humanos , Adolescente , Adulto Joven , Adulto , Simulación de Dinámica Molecular , Tomografía de Coherencia Óptica , Retina
10.
Indian J Ophthalmol ; 72(2): 303, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38273697

RESUMEN

BACKGROUND: Double optic disc pit maculopathy is a rare entity. It can be difficult to manage because of excessive leakage and chronic maculopathy. PURPOSE: To describe surgical management in a case of double optic disc pits with maculopathy. SYNOPSIS: A 42-year-old male presented with double optic disc pits with macular detachment in the left eye. The best-corrected visual acuity (BCVA) was 20/60, N12. Preoperative OCT showed the presence of two disc pits. The macular region had large retinoschisis and subretinal fluid (SRF) with a central foveal thickness of 879 microns and loss of the ellipsoid zone. A shallow communication from the temporal aspect of the disc to the submacular area was also noted. Among the options of observation, laser photocoagulation, and surgery, the patient opted for surgical management. SURGICAL TECHNIQUE: A standard-3 port 23-gauge pars plana vitrectomy was done. After staining the ILM with brilliant blue, ILM peeling was done with the help of forceps and Finesse loop. ILM flaps were inverted over to cover the optic disc pits and sealed with a drop of fibrin glue. Next, 20% SF6 gas was used for tamponade. Pre- and post-surgery parameters such as visual acuity and OCT were evaluated. POSTOPERATIVE EVALUATION: After 6 weeks, left eye BCVA was 20/40 with OCT showing reduced SRF and reduced intraretinal schisis with a foveal thickness of 546 microns. At 3 months of follow-up, the vision in the left eye had improved to 20/30 with further reduction in the retinoschisis and foveal thickness of 482 microns. HIGHLIGHTS: In this interesting case, we demonstrate a unique way of sealing the defect surgically by vitrectomy and inverted ILM flap with fibrin glue over the disc pits. Despite sealing the maculopathy is slow to resolve. VIDEO LINK: https://youtu.be/s9nY5UPe1s4.


Asunto(s)
Anomalías del Ojo , Degeneración Macular , Disco Óptico , Desprendimiento de Retina , Enfermedades de la Retina , Retinosquisis , Masculino , Humanos , Adulto , Retinosquisis/diagnóstico , Retinosquisis/cirugía , Retinosquisis/complicaciones , Desprendimiento de Retina/cirugía , Adhesivo de Tejido de Fibrina , Tomografía de Coherencia Óptica , Endotaponamiento/efectos adversos , Enfermedades de la Retina/cirugía , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/cirugía , Anomalías del Ojo/complicaciones , Degeneración Macular/complicaciones , Vitrectomía/métodos , Coagulación con Láser/efectos adversos
11.
Ophthalmic Surg Lasers Imaging Retina ; 55(2): 100-102, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38198609

RESUMEN

In this article, we present a case of optic pit-like macular retinoschisis in the absence of advanced glaucomatous cupping. Intraocular pressure (IOP)-lowering therapy, which was started due to an early concern for glaucoma, caused a worsening of the retinoschisis, which subsequently resolved on discontinuation of the IOP-lowering therapy. Lower IOP likely triggered intraretinal fluid accumulation by facilitating a translaminar gradient from the subarachnoid to intraretinal space. [Ophthalmic Surg Lasers Imaging Retina 2024;55:100-102.].


Asunto(s)
Anomalías del Ojo , Glaucoma , Retinosquisis , Humanos , Presión Intraocular , Retinosquisis/diagnóstico , Retinosquisis/etiología , Tonometría Ocular/efectos adversos , Anomalías del Ojo/complicaciones
12.
Ophthalmic Res ; 67(1): 137-144, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38246146

RESUMEN

INTRODUCTION: The aim of this study was to evaluate the clinical characteristics and surgical outcomes of the epiretinal membrane foveoschisis (ERM-FS) with different morphological types. METHODS: This retrospective observational study reviewed 44 consecutive ERM-FS patients who underwent ERM surgery. According to the optical coherence tomography images, ERM-FS was classified into three groups: group A, FS crossed the fovea with the foveola elevated; group B, FS located at the foveal edges with a near-normal central foveal point thickness; and group C, FS with undermined foveal edges with a near-normal central foveal point thickness. RESULTS: There were 10 eyes in group A, 20 eyes in group B, and 14 eyes in group C. Preoperatively, eyes in group A had the best best-corrected visual acuity (BCVA), the thickest central foveal point thickness, and the highest ellipsoid zone (EZ) intact rate among the three groups. After surgery, a resolution of foveoschisis was observed in 40.0%, 45.0%, and 50.0% of the eyes in group A, group B, and group C (p = 0.928), respectively. BCVA was significantly improved postoperatively. Although there was no significant difference in BCVA among the three groups at 1 month postoperatively, BCVA of group A was the best at 4 and 10 months. Correlation analysis indicated that the type of ERM-FS, baseline BCVA, central foveal point thickness, and postoperative EZ continuity (all p < 0.05) were important factors for the final BCVA. CONCLUSIONS: The damage to the retinal structure and visual function was milder in group A ERM-FS. Our study emphasized the necessity of OCT-based subtyping in patients with ERM-FS.


Asunto(s)
Membrana Epirretinal , Fóvea Central , Retinosquisis , Tomografía de Coherencia Óptica , Agudeza Visual , Vitrectomía , Humanos , Estudios Retrospectivos , Vitrectomía/métodos , Agudeza Visual/fisiología , Membrana Epirretinal/cirugía , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/fisiopatología , Femenino , Masculino , Fóvea Central/patología , Tomografía de Coherencia Óptica/métodos , Anciano , Retinosquisis/cirugía , Retinosquisis/diagnóstico , Retinosquisis/fisiopatología , Persona de Mediana Edad , Estudios de Seguimiento
13.
Eur J Ophthalmol ; 34(3): NP105-NP110, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38291655

RESUMEN

PURPOSE: To report a rare case of progressive retinoschisis and retinal detachment after uncomplicated macular hole (MH) surgery. CASE DESCRIPTION: A 67-year-old man with recent onset vision complaints in the right eye (visual acuity - 20/30), was diagnosed with a small idiopathic full-thickness MH. He underwent a 3-port 25G pars plana vitrectomy surgery with internal limiting membrane peeling and air endotamponade. RESULTS: MH closed with a normal foveal contour and intact retinal layers by the 1st post operative week and vision improved to 20/20. At the 7th week follow-up period, the patient complained of visual disturbances in his right eye for 2 days. Optical coherence tomography scans revealed development of peripheral retinoschisis which progressed towards the macula over the next 4 weeks. At the 13th week following the retinal surgery, patient developed sudden profound vision loss to hand motions and a total retinal detachment was noted. He underwent a second retinal surgery with retinectomy to the stiff retina and silicone oil endotamponade. At the last follow-up visit 8 weeks after the second surgery, the visual acuity had improved to 20/120 and the retina was well-attached with silicone oil in place. CONCLUSION: We present a rare case of progressive retinoschisis and retinal detachment caused by residual ILM contraction after MH repair surgery. To the best of our knowledge, no such complication after MH repair surgery has been reported in the literature.


Asunto(s)
Endotaponamiento , Desprendimiento de Retina , Perforaciones de la Retina , Retinosquisis , Tomografía de Coherencia Óptica , Agudeza Visual , Vitrectomía , Humanos , Retinosquisis/cirugía , Retinosquisis/diagnóstico , Retinosquisis/etiología , Masculino , Desprendimiento de Retina/cirugía , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/etiología , Perforaciones de la Retina/cirugía , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/etiología , Anciano , Agudeza Visual/fisiología , Progresión de la Enfermedad , Aceites de Silicona/administración & dosificación , Complicaciones Posoperatorias
14.
Doc Ophthalmol ; 148(1): 65-71, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38172268

RESUMEN

PURPOSE: In this study, we report a case of a young adult with X-linked juvenile retinoschisis (XLRS) with a rare pathogenic variant in the RS1 gene (c.522 + 2 T > A). METHODS: Ophthalmological evaluation, optical coherence tomography, full-field and multifocal electroretinograms and extensive genetic screening of genes related to visual loss were carried out in the participant. RESULTS: Clinical ophthalmological exams revealed a mild to moderate impairment of visual acuity. Retinal imaging showed bilateral foveal schisis, as well as normal a-wave, reduction in the b-wave amplitudes in dark- and light- adapted full-field electroretinograms, and abnormal oscillatory potentials. We found also diffuse amplitude reduction in multifocal electroretinogram arrays. A canonical splice variant was identified in the RS1 gene (c.522 + 2 T > A). CONCLUSION: A rare pathogenic variant of the RS1 gene was associated with diffuse retinal involvement (central and peripheral retina), probably in inner retina, and mild to moderate visual acuity impairment. The phenotypical characterization of rare mutations is relevant to provide information about the disease.


Asunto(s)
Electrorretinografía , Retinosquisis , Adulto Joven , Humanos , Retina/patología , Retinosquisis/diagnóstico , Retinosquisis/genética , Mutación , Fóvea Central/patología , Proteínas del Ojo/genética , Tomografía de Coherencia Óptica
15.
Int J Mol Sci ; 25(2)2024 Jan 19.
Artículo en Inglés | MEDLINE | ID: mdl-38279267

RESUMEN

X-linked juvenile retinoschisis (XLRS) is an early-onset progressive inherited retinopathy affecting males. It is characterized by abnormalities in the macula, with formation of cystoid retinal cavities, frequently accompanied by splitting of the retinal layers, impaired synaptic transmission of visual signals, and associated loss of visual acuity. XLRS is caused by loss-of-function mutations in the retinoschisin gene located on the X chromosome (RS1, MIM 30083). While proof-of-concept studies for gene augmentation therapy have been promising in in vitro and rodent models, clinical trials in XLRS patients have not been successful thus far. We performed a systematic literature investigation using search strings related to XLRS and gene therapy in in vivo and in vitro models. Three rounds of screening (title/abstract, full text and qualitative) were performed by two independent reviewers until consensus was reached. Characteristics related to study design and intervention were extracted from all studies. Results were divided into studies using (1) viral and (2) non-viral therapies. All in vivo rodent studies that used viral vectors were assessed for quality and risk of bias using the SYRCLE's risk-of-bias tool. Studies using alternative and non-viral delivery techniques, either in vivo or in vitro, were extracted and reviewed qualitatively, given the diverse and dispersed nature of the information. For in-depth analysis of in vivo studies using viral vectors, outcome data for optical coherence tomography (OCT), immunohistopathology and electroretinography (ERG) were extracted. Meta-analyses were performed on the effect of recombinant adeno-associated viral vector (AAV)-mediated gene augmentation therapies on a- and b-wave amplitude as well as the ratio between b- and a-wave amplitudes (b/a-ratio) extracted from ERG data. Subgroup analyses and meta-regression were performed for model, dose, age at injection, follow-up time point and delivery method. Between-study heterogeneity was assessed with a Chi-square test of homogeneity (I2). We identified 25 studies that target RS1 and met our search string. A total of 19 of these studies reported rodent viral methods in vivo. Six of the 25 studies used non-viral or alternative delivery methods, either in vitro or in vivo. Of these, five studies described non-viral methods and one study described an alternative delivery method. The 19 aforementioned in vivo studies were assessed for risk of bias and quality assessments and showed inconsistency in reporting. This resulted in an unclear risk of bias in most included studies. All 19 studies used AAVs to deliver intact human or murine RS1 in rodent models for XLRS. Meta-analyses of a-wave amplitude, b-wave amplitude, and b/a-ratio showed that, overall, AAV-mediated gene augmentation therapy significantly ameliorated the disease phenotype on these parameters. Subgroup analyses and meta-regression showed significant correlations between b-wave amplitude effect size and dose, although between-study heterogeneity was high. This systematic review reiterates the high potential for gene therapy in XLRS, while highlighting the importance of careful preclinical study design and reporting. The establishment of a systematic approach in these studies is essential to effectively translate this knowledge into novel and improved treatment alternatives.


Asunto(s)
Retinosquisis , Masculino , Humanos , Animales , Ratones , Retinosquisis/genética , Retinosquisis/terapia , Retinosquisis/diagnóstico , Retina/patología , Electrorretinografía , Terapia Genética , Mutación , Proteínas del Ojo/genética
16.
Klin Monbl Augenheilkd ; 241(1): 84-87, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36781159

RESUMEN

This is a unique case of retinoschisis as an ocular manifestation of brucellosis. A 38-year-old male presented with recurrent episodes of bilateral eye redness, predominately in his left eye. His visual acuity was not affected, and he did not report any other symptoms. On slit lamp examination, binocular Koeppe nodules of the iris and cells in the left anterior chamber were observed. Fundoscopy followed by meticulous multimodal imaging confirmed left inferior retinoschisis. The patient was diagnosed with panuveitis, and a series of laboratory examinations revealed positive anti-IgM Brucella antibodies. Ocular brucellosis can cause variable, atypical, and serious presentations, hence, early diagnosis is paramount to avoid complications.


Asunto(s)
Brucella , Brucelosis , Panuveítis , Retinosquisis , Uveítis , Humanos , Masculino , Adulto , Uveítis/diagnóstico , Uveítis/complicaciones , Brucelosis/complicaciones , Brucelosis/diagnóstico , Brucelosis/tratamiento farmacológico
17.
Technol Health Care ; 32(1): 181-190, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37125580

RESUMEN

BACKGROUND: Macular retinoschisis in patients with high myopia is one of the main reasons for a decline in visual function and the perceived deformation of visual objects. OBJECTIVE: This study aimed to investigate the therapeutic effect of cataract phacoemulsification and foldable intraocular lens implantation (FILI) combined with internal limiting membrane stripping (ILMS) in the treatment of macular retinoschisis in patients with high myopia. METHODS: A total of 52 patients (55 eyes) who had been diagnosed with macular retinoschisis with high myopia between June 2019 and June 2020 were enrolled in the present study. Patients in the control group (25 eyes) received 23G vitreous surgery and macular ILMS and long-term inert gas (C3F8) filling of the vitreous cavity; patients in the research group (30 eyes) were additionally treated with cataract phacoemulsification and soft intraocular lens on the same treatment basis as the control group. RESULTS: The difference in average BCVA between the control and the research groups was not statistically significant before the surgery (P> 0.05) but was statistically significant 12 months after the procedure (P< 0.05). The minimum foveal thickness was significantly decreased in the two groups after the surgery compared with before the procedure (P< 0.05). CONCLUSION: Cataract phacoemulsification and FILI further improved the therapeutic effect of ILMS in the treatment of macular retinoschisis in patients with high myopia.


Asunto(s)
Catarata , Lentes Intraoculares , Miopía , Retinosquisis , Humanos , Retinosquisis/cirugía , Vitrectomía/métodos , Estudios Retrospectivos , Miopía/cirugía , Retina , Catarata/complicaciones
18.
Eye (Lond) ; 38(2): 266-273, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-37524830

RESUMEN

OBJECTIVES: To investigate the relationship between the shape of the optic nerve head (ONH) margin detected by optical coherence tomography (OCT) and the clinical characteristics of glaucomatous eyes with papillomacular retinoschisis (PMRS). METHODS: The medical record of patients with a PMRS in a glaucomatous eye were reviewed. The eyes were placed into two groups determined by the shape of the ONH margin in the OCT images; eyes with an externally oblique ONH margin (Group 1) and eyes with an internally oblique ONH margin (Group 2). We compared the clinical characteristics of the PMRS of these two groups. RESULTS: We studied 31 eyes of 29 patients with PMRS and glaucoma with 24 eyes in Group 1 and 7 eyes in Group 2. The optic nerve fibre layer schisis on the lamina cribrosa (LC), beta zone, and gamma zone, and found that the LC defects were detected significantly more frequently in Group 1 than in Group 2 eyes (P < 0.05). A retinal nerve fibre schisis was observed around the ONH significantly more frequently in Group 2 than in Group 1 eyes (P < 0.01). CONCLUSION: The cases of glaucoma-associated PMRS could be classified into two groups according to the obliquity of the ONH. They had differences in the findings of OCT and FA. The possibility that the mechanism of PMRS development is different in both groups is suggested.


Asunto(s)
Glaucoma , Disco Óptico , Retinosquisis , Humanos , Tomografía de Coherencia Óptica/métodos , Retinosquisis/diagnóstico por imagen , Glaucoma/diagnóstico , Presión Intraocular
20.
Jpn J Ophthalmol ; 68(1): 12-18, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38001367

RESUMEN

PURPOSE: Vitreomacular traction (VMT) has unique presentations in eyes with diabetic retinopathy (DR). This study aimed to investigate the characteristics and clinical course of VMT in DR. STUDY DESIGN: A retrospective case series. METHODS: Thirty eyes from 30 patients with DR and concurrent VMT were retrospectively enrolled. Baseline and final best-corrected visual acuity (BCVA) and optical coherence tomography (OCT) characteristics were reported. Linear regression models were used to analyze the correlating factors for visual outcome. RESULTS: Of the 30 eyes, a thickened posterior hyaloid membrane was noted in all cases and multi-layered traction from different directions in 14 eyes (46.7%). Twenty-one eyes (70%) had tractional macular retinoschisis, seven (23.3%) had foveal detachment, five (16.7%) had a lamellar macular hole, and three (10%) had a full-thickness macular hole, including two with macular hole retinal detachment. Three eyes had spontaneous release of the VMT within 3 months of observation. For the remaining 27 eyes receiving operations, the VMT, full-thickness macular hole, and serous foveal detachment all resolved postoperatively with residual macular schisis in 6 eyes (22.2%) only. None of the baseline OCT characteristics were associated with postoperative BCVA (P > .05). CONCLUSIONS: VMT in DR had a thickened posterior hyaloid, and many of them had multi-layered traction and/or concurrent macular retinoschisis. Lamellar macular hole, full-thickness macular hole, or concurrent retinal detachment may also occur. Spontaneous resolution of VMT rarely occurred, and those who underwent operation for VMT had improved vision and macular structures with resolution of the macular hole and retinal detachment.


Asunto(s)
Diabetes Mellitus , Retinopatía Diabética , Desprendimiento de Retina , Perforaciones de la Retina , Retinosquisis , Desprendimiento del Vítreo , Humanos , Retinopatía Diabética/complicaciones , Retinopatía Diabética/diagnóstico , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/etiología , Perforaciones de la Retina/cirugía , Estudios Retrospectivos , Desprendimiento del Vítreo/diagnóstico , Desprendimiento del Vítreo/etiología , Desprendimiento de Retina/complicaciones , Retinosquisis/diagnóstico , Retinosquisis/etiología , Retinosquisis/cirugía , Tracción , Trastornos de la Visión , Tomografía de Coherencia Óptica
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