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1.
Retina ; 44(10): 1785-1792, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39287541

RESUMO

PURPOSE: To investigate the characteristics of mixed pathophysiologies in lamellar macular holes (LMHs) and related diseases using multimodal optical coherence tomography. METHODS: Overall, 126 eyes diagnosed with LMH, epiretinal membrane foveoschisis, or macular pseudohole using the horizontal B-scan image according to the definition proposed by Hubschman et al in 2020 were analyzed using multimodal optical coherence tomography imaging including horizontal and vertical 5-line B-scan, radial scan, and macular three-dimensional volume scan images. If at least two diagnostic criteria for LMH, epiretinal membrane foveoschisis, or macular pseudohole were satisfied in these scans, the patient was diagnosed as having a "mixed type." Retinal traction force was quantitatively evaluated by measuring the maximum depth of the retinal folds using en-face images. RESULTS: Mixed types constituted 34.1% of the cases. The LMH-related mixed group demonstrated intermediate characteristics between the epiretinal membrane foveoschisis/macular pseudohole and true LMH groups in terms of retinal traction and LMH-specific features and had a significant positive correlation between the maximum depth of the retinal folds and mean M-CHARTS scores (P = 0.034). CONCLUSION: A thorough optical coherence tomography analysis is necessary to accurately diagnose LMH and related diseases. A significant positive correlation was observed between the maximum depth of the retinal folds and the degree of metamorphopsia in the LMH-related mixed group.


Assuntos
Membrana Epirretiniana , Perfurações Retinianas , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Tomografia de Coerência Óptica/métodos , Perfurações Retinianas/diagnóstico , Perfurações Retinianas/fisiopatologia , Perfurações Retinianas/diagnóstico por imagem , Feminino , Masculino , Idoso , Membrana Epirretiniana/diagnóstico , Membrana Epirretiniana/fisiopatologia , Membrana Epirretiniana/diagnóstico por imagem , Acuidade Visual/fisiologia , Estudos Retrospectivos , Pessoa de Meia-Idade , Imagem Multimodal , Retinosquise/diagnóstico , Retinosquise/fisiopatologia , Retinosquise/diagnóstico por imagem , Macula Lutea/diagnóstico por imagem , Macula Lutea/patologia , Idoso de 80 Anos ou mais
2.
BMJ Open Ophthalmol ; 9(1)2024 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-39209741

RESUMO

AIMS: To assess peripapillary retinal nerve fibre layer (pRNFL) thickness in patients with X-linked retinoschisis (XLRS), as pRNFL thinning may limit functional improvements in gene therapy trials. METHODS: This retrospective multicentre study included 49 eyes from 25 patients diagnosed with XLRS. Data collected with multimodal imaging at baseline and last follow-up (when available) included age, best-recorded visual acuity (BRVA), central retinal thickness, macular volume (MV), presence and location of peripheral retinoschisis and pRNFL thickness in the global (G), superotemporal (TS), superonasal (NS), inferotemporal (TI), inferonasal (NI), nasal (N) and temporal (T) sectors. Retinal sensitivity, assessed by microperimetry, was also recorded for seven patients at baseline. RESULTS: pRNFL was thinner (below the fifth percentile) in at least one sector in 72% of right eyes and 79% of left eyes, with thinning across three or more sectors in 20% of right and 17% of left eyes. In 44% of cases, thinning occurred in the temporal sectors of both eyes, with no nasal sectoral thinning. Number of peripheral retinoschisis quadrants matched thinned pRNFL sectors. A strong positive correlation was found between MV and temporal pRNFL thickness (r=0.71, p<0.01), while weak negative correlation trends were noted with age (p=0.05) and BRVA (logMAR; p=0.12) related to temporal thickness of pRNFL sectors. CONCLUSION: pRNFL thinning, predominantly sectoral and linked to macular or peripheral retinoschisis, occurs in about three-quarters of patients with XLRS, while diffuse thinning occurs in one-fifth. Temporal pRNFL thinning might occur only after the collapse of intraretinal cystoid cavities in the macula.


Assuntos
Fibras Nervosas , Células Ganglionares da Retina , Retinosquise , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Retinosquise/patologia , Retinosquise/diagnóstico por imagem , Retinosquise/fisiopatologia , Retinosquise/genética , Estudos Retrospectivos , Masculino , Adulto , Acuidade Visual/fisiologia , Fibras Nervosas/patologia , Adolescente , Criança , Adulto Jovem , Pessoa de Meia-Idade , Células Ganglionares da Retina/patologia , Feminino , Campos Visuais/fisiologia , Disco Óptico/patologia , Disco Óptico/diagnóstico por imagem , Testes de Campo Visual , Seguimentos
3.
Retina ; 44(9): 1546-1551, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39167576

RESUMO

PURPOSE: To assess the functional outcomes in visual acuity, metamorphopsia, and vision-related quality of life (VR-QOL) and to evaluate prognostic factors after macular buckling (MB) surgery in eyes with high myopia and foveoschisis (FS)-associated macular detachment (MD). METHODS: Thirty-nine eyes of 39 patients with FS-associated MD who underwent MB surgery were enrolled. Measured outcomes comprised best-corrected visual acuity (BCVA), metamorphopsia, VR-QOL, axial length (AL), macular reattachment, and resolution of foveoschisis. In addition, factors affecting final BCVA and metamorphopsia were analyzed. RESULTS: At 12 months postoperatively, 36 eyes (92.31%) achieved macular reattachment, 37 eyes (94.87%) achieved complete resolution of foveoschisis, and metamorphopsia diminished in 31 eyes (79.49%). LogMAR BCVAs at baseline and months 1, 3, 6, and 12 postoperatively were 0.62 ± 0.35 (20/83), 0.65 ± 0.3 (20/89), 0.59 ± 0.31 (20/77), 0.54 ± 0.31 (20/69), and 0.46 ± 0.27 (20/57) (P < 0.001), respectively. Metamorphopsia scores by M-CHARTS were 1.36° ± 0.51°, 1.04° ± 0.51°, 0.74° ± 0.47°, 0.59° ± 0.47°, and 0.13° ± 0.29° (P < 0.001). All Visual Function Questionnaire-25 subscales demonstrated significant improvement postoperatively, with the exception of "general health" (P = 0.08) and "driving" (P = 0.111). Preoperative BCVA was an independent risk factor for postoperative BCVA at month 12 (r = 0.638, P < 0.001), and the preoperative M-score was an independent risk factor for postoperative M-score at month 12 (r = 0.187, P = 0.045). CONCLUSION: MB surgery significantly improved BCVA, metamorphopsia, and VR-QOL in patients with FS-associated MD. Preoperative BCVA and metamorphopsia score were prognostic factors for postoperative BCVA and metamorphopsia score at month 12.


Assuntos
Miopia Degenerativa , Qualidade de Vida , Descolamento Retiniano , Retinosquise , Recurvamento da Esclera , Transtornos da Visão , Acuidade Visual , Humanos , Acuidade Visual/fisiologia , Masculino , Feminino , Pessoa de Meia-Idade , Descolamento Retiniano/cirurgia , Descolamento Retiniano/fisiopatologia , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Miopia Degenerativa/complicações , Miopia Degenerativa/fisiopatologia , Miopia Degenerativa/cirurgia , Recurvamento da Esclera/métodos , Retinosquise/cirurgia , Retinosquise/fisiopatologia , Retinosquise/diagnóstico , Idoso , Estudos Retrospectivos , Transtornos da Visão/fisiopatologia , Transtornos da Visão/etiologia , Adulto , Seguimentos , Tomografia de Coerência Óptica/métodos , Resultado do Tratamento
4.
Int J Mol Sci ; 25(15)2024 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-39125773

RESUMO

X-linked juvenile retinoschisis (XLRS) is a hereditary retinal degeneration affecting young males caused by mutations in the retinoschisin (RS1) gene. We generated human induced pluripotent stem cells (hiPSCs) from XLRS patients and established three-dimensional retinal organoids (ROs) for disease investigation. This disease model recapitulates the characteristics of XLRS, exhibiting defects in RS1 protein production and photoreceptor cell development. XLRS ROs also revealed dysregulation of Na/K-ATPase due to RS1 deficiency and increased ERK signaling pathway activity. Transcriptomic analyses of XLRS ROs showed decreased expression of retinal cells, particularly photoreceptor cells. Furthermore, relevant recovery of the XLRS phenotype was observed when co-cultured with control ROs derived from healthy subject during the early stages of differentiation. In conclusion, our in vitro XLRS RO model presents a valuable tool for elucidating the pathophysiological mechanisms underlying XLRS, offering insights into disease progression. Additionally, this model serves as a robust platform for the development and optimization of targeted therapeutic strategies, potentially improving treatment outcomes for patients with XLRS.


Assuntos
Proteínas do Olho , Células-Tronco Pluripotentes Induzidas , Organoides , Retina , Retinosquise , Humanos , Retinosquise/genética , Retinosquise/metabolismo , Retinosquise/patologia , Organoides/metabolismo , Organoides/patologia , Células-Tronco Pluripotentes Induzidas/metabolismo , Masculino , Proteínas do Olho/genética , Proteínas do Olho/metabolismo , Retina/metabolismo , Retina/patologia , Diferenciação Celular/genética , Modelos Biológicos
5.
BMC Ophthalmol ; 24(1): 293, 2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-39026209

RESUMO

OBJECTIVE: This study aimed to evaluate and explore the efficacy of pars plana vitrectomy (PPV) combined with internal limiting membrane (ILM) peeling and gas tamponade in treating myopic foveoschisis (MF) through a meta-analysis. METHODS: Systematic searches were conducted on the PubMed, Web of Science and National Library of Medicine (NLM) English-language databases and the China National Knowledge Infrastructure (CNKI) and Wanfang Chinese-language databases. The primary outcome measures were postoperative best-corrected visual acuity (BCVA) and central foveal thickness (CFT), with the secondary outcome being the postoperative complication rate. Data analysis was performed using RevMan5.3 software. RESULTS: A total of 10 studies involving 234 eyes were included. The meta-analysis results showed the following: (1) The average postoperative BCVA improved compared with preoperative levels, with an average improvement in the logarithm of the minimum angle of resolution of 0.40, a statistically significant difference (95% CI: -0.44, - 0.20, p < 0.001); (2) the rate of postoperative BCVA improvement was 77% (95% CI: 65%, 90%, p < 0.001); (3) the postoperative CFT significantly decreased by an average of 385.92 µm, a statistically significant difference (95% CI: -437.85, - 333.98, p < 0.001); (4) the postoperative macular retinal complete reattachment rate was 90% (95% CI: 83%, 97%, p < 0.001); (5) the most common postoperative complication was a cataract, with an incidence of 55.9%. CONCLUSION: Using PPV combined with ILM peeling and gas tamponade to treat MF is reliable.


Assuntos
Membrana Basal , Tamponamento Interno , Retinosquise , Acuidade Visual , Vitrectomia , Humanos , Vitrectomia/métodos , Retinosquise/cirurgia , Tamponamento Interno/métodos , Acuidade Visual/fisiologia , Membrana Basal/cirurgia , Miopia Degenerativa/cirurgia , Miopia Degenerativa/complicações , Miopia Degenerativa/fisiopatologia , Miopia/cirurgia , Miopia/fisiopatologia
6.
Ophthalmic Res ; 67(1): 424-434, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38986459

RESUMO

BACKGROUND: Presently, the global prevalence of myopia and high myopia reaches approximately 1.95 billion and 277 million individuals, respectively. Projections suggest that by 2050, the number of people with myopia may rise to 4.758 billion and those with high myopia to 938 million. In highly myopic eyes, the occurrence of MF is reported to be as high as 8-33%. SUMMARY: This review comprehensively addresses the classification, pathogenesis, natural progression, concomitant pathologies, and therapeutic strategies for macular foveoschisis in highly myopic patients. KEY MESSAGES: In recent years, macular foveoschisis has emerged as a prevalent complication in individuals with high myopia, primarily resulting from the combination of inward traction by vitreoretinal adhesions and outward traction exerted by posterior scleral staphyloma on the retina. While some maintain partial visual stability over an extended period, others may progress to macular holes or even retinal detachment. For highly myopic patients with macular foveoschisis, the mainstay procedures are vitrectomy, macular buckle, and posterior scleral reinforcement. However, there is controversy about whether to perform inner limiting membrane peeling and gas filling.


Assuntos
Miopia Degenerativa , Retinosquise , Humanos , Retinosquise/diagnóstico , Retinosquise/etiologia , Miopia Degenerativa/complicações , Miopia Degenerativa/diagnóstico , Miopia Degenerativa/fisiopatologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Vitrectomia/métodos , Macula Lutea/patologia
7.
BMC Ophthalmol ; 24(1): 299, 2024 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-39033302

RESUMO

BACKGROUND: In severe Proliferative Diabetic Retinopathy (PDR), fibrovascular membrane (FVM) causes macular tractional retinal detachment (MTRD) which threatens vision and eventually leads to blindness. Here we present a case of separation between the inner and outer retina in tractional retinoschisis, induced during intraoperative FVM delamination. CASE PRESENTATION: A 68-year-old woman presented with PDR in the right eye, characterized by a combined FVM and retinal detachment, for which a vitrectomy was performed. Multiple holes, large retinal detachment extending to all quadrants, and white-lined blood vessels with FVM were found during the procedure. When membrane delamination was performed, it strayed into the space between the inner and outer retinal layers without being noticed due to retinoschisis and multiple retinal holes. After removing the FVM and detaching the separated inner retina, fluid-gas and photocoagulation were performed. Retinal reattachment was successfully achieved after surgery, and the postoperative visual acuity was improved and maintained for 26 months postoperatively. CONCLUSIONS: When tractional retinoschisis due to FVM is combined with retinal holes in tractional retinal detachment (TRD), care must be taken to prevent delamination from straying into retinoschisis during separation.


Assuntos
Retinopatia Diabética , Descolamento Retiniano , Retinosquise , Tomografia de Coerência Óptica , Acuidade Visual , Vitrectomia , Humanos , Feminino , Idoso , Retinosquise/cirurgia , Retinosquise/etiologia , Retinosquise/diagnóstico , Retinopatia Diabética/cirurgia , Retinopatia Diabética/complicações , Retinopatia Diabética/diagnóstico , Vitrectomia/métodos , Acuidade Visual/fisiologia , Descolamento Retiniano/cirurgia , Descolamento Retiniano/etiologia , Descolamento Retiniano/diagnóstico , Perfurações Retinianas/cirurgia , Perfurações Retinianas/etiologia , Perfurações Retinianas/diagnóstico , Complicações Intraoperatórias
8.
Photodiagnosis Photodyn Ther ; 48: 104258, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38955256

RESUMO

OBJECTIVE: To observe the morphological characteristics of posterior scleral staphyloma (PSS) with or without macular retinoschisis (MRS) using optical coherence tomography (OCT). Additionally, the incidence and severity of other pathologic myopic maculopathy associated with posterior scleral staphyloma was also evaluated. METHODS: General information and OCT imaging data from 440 patients with posterior scleral staphyloma (PSS) and the PSS curvature > 20×10-3 µm-1 were collected. These patients visited the Department of Ophthalmology at the First Affiliated Hospital of Harbin Medical University from January 2013 to June 2021. The obtained OCT images of PSS were analyzed using the Image J software to measure the curvature along the Bruch's membrane. The measured curvature was divided into four levels using the quartile method. The classification of macular retinoschisis (MRS) was based on the anatomical structure of the retina and the location of macular retinoschisis. Patients with PSS accompanied by MRS were assigned to the MRS group, while PSS patients without MRS were assigned to the non-MRS group. Additionally, typical OCT changes in other pathologic myopic maculopathy diseases, such as myopic choroidal neovascularization (mCNV), myopic traction maculopathy (MTM), and myopic foveoschisis (MF), were recorded and evaluated. RESULTS: A total of 615 eyes (328 right eyes, 287 left eyes) from 440 patients (80 males and 360 females) were recruited in this study. The MRS group consisted of 159 patients (36.1%) with 190 eyes (30.9%), while the non-MRS group consisted of 281 patients (63.9%) with 425 eyes (69.1%). Both groups had a significantly higher proportion of female patients compared to male patients, and the right eye was more commonly affected than the left eye. In the MRS group, the prevalence of MRS increased progressively with the severity of PSS. Among the common posterior pole diseases, epiretinal membrane had the highest prevalence (33.2%), while lamellar macular hole had the lowest prevalence (5.3%). In the non-MRS group, the proportion of PSS in each group decreased progressively (except for an equal prevalence in the third and fourth levels) with increasing severity of PSS. Among the common posterior pole diseases, choroidal neovascularization had the highest prevalence (41.4%), while lamellar macular hole had the lowest prevalence (6.5%). When comparing the two groups, there were no significant differences in age, gender, and eye distribution. The MRS group had a higher prevalence of macular schisis, retinal detachment, and dome-shaped macula (17.9%, 14.2%, 14.8%) compared to the non-MRS group (11.3%, 9.2%, 9.6%). The non-MRS group had a significantly higher prevalence of choroidal neovascularization (41.4%) compared to the MRS group (12.6%), while there were no significant differences in the prevalence of epiretinal membrane and lamellar macular hole between the two groups. CONCLUSION: The prevalence of MRS increased progressively with the severity of PSS, and the MRS occurrence was positively correlated with PSS, which indicated that PSS may lead to MRS, while the proportion of PSS in each group decreases gradually with the severity of PSS in the non-MRS group decreased progressively (except for an equal prevalence in the third and fourth levels). In the MRS group, outer macular retinoschisiss were most relevant to posterior scleral staphyloma, and the prevalence of macular holes and retinal detachments was higher in the MRS group compared to the non-MRS group, indicating that MRS may further turn into complications such as macular holes and retinal detachments, which can significantly affect vision or lead to blindness. The prevalence of choroidal neovascularization (CNV) was significantly higher in the non-MRS group compared to the MRS group, suggesting that PSS with lower severity is more prone to develop into CNV. Dome-shaped macula (DSM) seems to play a protective role in the development of pathologic myopia, and abnormal changes in posterior scleral staphyloma curvature may be an important factor affecting the development and shape of DSM.


Assuntos
Miopia Degenerativa , Retinosquise , Doenças da Esclera , Tomografia de Coerência Óptica , Humanos , Tomografia de Coerência Óptica/métodos , Feminino , Masculino , Pessoa de Meia-Idade , Miopia Degenerativa/complicações , Adulto , Idoso , Fundo de Olho , Esclera/patologia , Dilatação Patológica
10.
Stem Cell Res Ther ; 15(1): 152, 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38816767

RESUMO

BACKGROUND: X-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1 gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1-associated retinal degeneration is not fully understood. Besides, animal models of XLRS have limitations in the study of XLRS. Here, we used human induced pluripotent stem cell (hiPSC)-derived retinal organoids (ROs) to investigate the disease mechanisms and potential treatments for XLRS. METHODS: hiPSCs reprogrammed from peripheral blood mononuclear cells of two RS1 mutant (E72K) XLRS patients were differentiated into ROs. Subsequently, we explored whether RS1 mutation could affect RO development and explore the effectiveness of RS1 gene augmentation therapy. RESULTS: ROs derived from RS1 (E72K) mutation hiPSCs exhibited a developmental delay in the photoreceptor, retinoschisin (RS1) deficiency, and altered spontaneous activity compared with control ROs. Furthermore, the delays in development were associated with decreased expression of rod-specific precursor markers (NRL) and photoreceptor-specific markers (RCVRN). Adeno-associated virus (AAV)-mediated gene augmentation with RS1 at the photoreceptor immature stage rescued the rod photoreceptor developmental delay in ROs with the RS1 (E72K) mutation. CONCLUSIONS: The RS1 (E72K) mutation results in the photoreceptor development delay in ROs and can be partially rescued by the RS1 gene augmentation therapy.


Assuntos
Proteínas do Olho , Terapia Genética , Organoides , Retina , Retinosquise , Humanos , Masculino , Diferenciação Celular , Proteínas do Olho/genética , Proteínas do Olho/metabolismo , Terapia Genética/métodos , Células-Tronco Pluripotentes Induzidas/metabolismo , Mutação , Organoides/metabolismo , Retina/metabolismo , Retina/patologia , Retinosquise/genética , Retinosquise/terapia , Retinosquise/patologia , Retinosquise/metabolismo , Células Fotorreceptoras de Vertebrados/metabolismo , Células Fotorreceptoras de Vertebrados/patologia
11.
BMC Ophthalmol ; 24(1): 224, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38807066

RESUMO

BACKGROUND: Macular retinoschisis (MRS) and myopic macular neovascularization (mMNV) are both potentially blinding complications of high myopia. In this case report, we highlight the progression of MRS after intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment for mMNV, as well as an extensive review of the literature on this topic. CASE DESCRIPTION: A 49-year-old woman presented with two weeks of recent onset blurring and metamorphopsia in her right eye. She had high myopia in both eyes (right eye - 20/60 with - 16D, left eye - 20/20 with - 13D). Slit-lamp ophthalmoscopy found a normal anterior segment in both eyes. On fundus examination, features of pathological myopia with posterior staphyloma and peripapillary atrophy were observed in both eyes. An active mMNV, as well as intraretinal fluid, minimal perifoveal inner and outer MRS, and focal posterior vitreous traction along the inferotemporal retinal arcade, were detected on optical coherence tomography (OCT) of the right eye. The patient received an intravitreal injection of Aflibercept (2 mg/0.05 ml). RESULTS: OCT scans at two- and four-month follow-up visits revealed regressed mMNV with a taut epiretinal membrane, progressive worsening of outer MRS, and the development of multiple perifoveal retinal detachment inferior to the fovea. Pars plana vitrectomy surgery was performed for the progressive MRS with good anatomical (resolved MRS) and functional outcome (maintained visual acuity at 20/60) at the last one-month post-surgery visit. CONCLUSION: Intravitreal anti-VEGF injections for mMNV can cause vitreoretinal interface changes, exacerbating MRS and causing visual deterioration. Vitrectomy for MRS could be one of several treatment options.


Assuntos
Injeções Intravítreas , Miopia Degenerativa , Receptores de Fatores de Crescimento do Endotélio Vascular , Proteínas Recombinantes de Fusão , Retinosquise , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Receptores de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores , Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Feminino , Pessoa de Meia-Idade , Retinosquise/diagnóstico , Proteínas Recombinantes de Fusão/administração & dosagem , Proteínas Recombinantes de Fusão/efeitos adversos , Miopia Degenerativa/complicações , Inibidores da Angiogênese/efeitos adversos , Inibidores da Angiogênese/administração & dosagem , Progressão da Doença , Neovascularização Retiniana/tratamento farmacológico , Neovascularização Retiniana/diagnóstico , Neovascularização Retiniana/induzido quimicamente , Angiofluoresceinografia
12.
Hum Gene Ther ; 35(9-10): 342-354, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38661546

RESUMO

X-linked retinoschisis (XLRS) is a monogenic recessive inherited retinal disease caused by defects in retinoschisin (RS1). It manifests clinically as retinal schisis cavities and a disproportionate reduction of b-wave amplitude compared with the a-wave amplitude. Currently there is no approved treatment. In the last decade, there has been major progress in the development of gene therapy for XLRS. Previous preclinical studies have demonstrated the treatment benefits of hRS1 gene augmentation therapy in mouse models. However, outcomes in clinical trials have been disappointing, and this might be attributed to dysfunctional assembly of RS1 complexes and/or the impaired targeted cells. In this study, the human synapsin 1 gene promoter (hSyn) was used to control the expression of hRS1 to specifically target retinal ganglion cells and our results confirmed the specific expression and functional assembly of the protein. Moreover, our results demonstrated that a single intravitreal injection of rAAV2-hSyn-hRS1 results in architectural restoration of retinal schisis cavities and improvement in vision in a mouse model of XLRS. In brief, this study not only supports the clinical development of the rAAV2-hSyn-hRS1 vector in XLRS patients but also confirms the therapeutic potential of rAAV-based gene therapy in inherited retinal diseases.


Assuntos
Dependovirus , Modelos Animais de Doenças , Terapia Genética , Vetores Genéticos , Injeções Intravítreas , Camundongos Knockout , Células Ganglionares da Retina , Retinosquise , Sinapsinas , Animais , Dependovirus/genética , Células Ganglionares da Retina/metabolismo , Células Ganglionares da Retina/patologia , Camundongos , Terapia Genética/métodos , Retinosquise/terapia , Retinosquise/genética , Humanos , Vetores Genéticos/genética , Vetores Genéticos/administração & dosagem , Sinapsinas/genética , Sinapsinas/metabolismo , Proteínas do Olho/genética , Proteínas do Olho/metabolismo , Expressão Gênica , Regiões Promotoras Genéticas , Retina/metabolismo , Retina/patologia , Técnicas de Transferência de Genes
15.
Exp Eye Res ; 242: 109872, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38514024

RESUMO

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.


Assuntos
Moléculas de Adesão Celular , Modelos Animais de Doenças , Eletrorretinografia , Proteínas do Olho , Retinosquise , Animais , Retinosquise/genética , Retinosquise/fisiopatologia , Camundongos , Proteínas do Olho/genética , Proteínas do Olho/metabolismo , Células Fotorreceptoras de Vertebrados/patologia , Camundongos Endogâmicos C57BL , Mutação , Células Ependimogliais/patologia , Células Ependimogliais/metabolismo , Masculino , Células Bipolares da Retina/patologia , Células Bipolares da Retina/metabolismo
16.
Medicine (Baltimore) ; 103(13): e37620, 2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38552087

RESUMO

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.


Assuntos
Cistos , Descolamento Retiniano , Retinosquise , Feminino , Humanos , Adulto , Recurvamento da Esclera/métodos , Retinosquise/complicações , Retinosquise/cirurgia , Descolamento Retiniano/etiologia , Descolamento Retiniano/cirurgia , Descolamento Retiniano/diagnóstico , Hemorragia Vítrea/etiologia , Hemorragia Retiniana/complicações , Cistos/complicações , Cistos/cirurgia
18.
Acta Ophthalmol ; 102(6): e961-e969, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38533620

RESUMO

BACKGROUND/OBJECTIVE: To utilize ultra-widefield multimodal imaging (Optos PLC) to describe novel findings in degenerative retinoschisis. METHODS: This retrospective, non-comparative case series of degenerative retinoschisis received a waiver of consent from Advarra IRB, Protocol 00066379. Initial ultra-widefield pseudocolour, colour-separated, autofluorescence, and peripheral OCT imaging were analysed for characterizing features. RESULTS: In total, 139 eyes were included. A hyporeflective reticular pattern associated with retinoschisis was seen on pseudocolour images in 39% of cases, but visible in 53% on green-separated images. Fine hyper-reflective foci were observed in 49%. In 27%, retinoschisis was confirmed with OCT. CONCLUSIONS: Ultra-widefield pseudocolour and green-separated images are valuable for the diagnosis and characterization of degenerative retinoschisis. The findings described may prompt the evaluation of subtle retinoschisis with peripheral OCT.


Assuntos
Angiofluoresceinografia , Imagem Multimodal , Retinosquise , Tomografia de Coerência Óptica , Humanos , Retinosquise/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Angiofluoresceinografia/métodos , Adulto , Fundo de Olho , Retina/diagnóstico por imagem , Retina/patologia , Idoso de 80 Anos ou mais , Acuidade Visual
19.
Zhonghua Yan Ke Za Zhi ; 60(3): 234-241, 2024 Mar 11.
Artigo em Chinês | MEDLINE | ID: mdl-38462371

RESUMO

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.


Assuntos
Miopia Degenerativa , Descolamento Retiniano , Perfurações Retinianas , Retinosquise , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Vitrectomia , Miopia Degenerativa/cirurgia , Miopia Degenerativa/complicações , Estudos Retrospectivos , Retinosquise/cirurgia , Retinosquise/diagnóstico , Retinosquise/etiologia , Tomografia de Coerência Óptica , Membrana Basal/cirurgia , Acuidade Visual , Descolamento Retiniano/cirurgia , Perfurações Retinianas/cirurgia
20.
Zhonghua Yan Ke Za Zhi ; 60(3): 211-214, 2024 Mar 11.
Artigo em Chinês | MEDLINE | ID: mdl-38462367

RESUMO

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.


Assuntos
Membrana Epirretiniana , Degeneração Macular , Miopia Degenerativa , Descolamento Retiniano , Perfurações Retinianas , Retinosquise , Humanos , Descolamento Retiniano/etiologia , Perfurações Retinianas/cirurgia , Membrana Epirretiniana/cirurgia , Vitrectomia/métodos , Tração/efeitos adversos , Miopia Degenerativa/complicações , Miopia Degenerativa/cirurgia , Acuidade Visual , Retinosquise/complicações , Retinosquise/cirurgia , Tomografia de Coerência Óptica/métodos , Estudos Retrospectivos
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