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1.
Am J Ophthalmol ; 2024 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-38925285

RESUMO

PURPOSE: To assess the validity of retinal vasculitis as the preferred diagnostic term for multiple conditions. DESIGN: Perspective METHODS: Expert opinion and review of literature focused on the current nosology and pathology of retinal vasculitis. Interpretation of the subset of intraocular inflammation named retinal vasculitis based on fundamental knowledge of the blood-retinal barrier, the neurovascular unit and pathological and functional responses to a variety of stimuli. Correlation with multimodal imaging and known mechanisms of immunologically mediated disease. RESULTS: A search of Medline in early 2024 for the phrase "retinal vasculitis" resulted in 2041 citations encompassing immunologic, genetic, neoplastic, infectious, drug- and ischemia-related disorders. Classification schemes and angiographic grading systems are descriptive and do not address pathologic mechanisms adequately, in part due to lack of histologic confirmation. Although OCT angiography holds promise for better imaging of retinal vascular changes, it does not reveal the key feature of leakage and only partially improves understanding of pathophysiology. Diagnosing catastrophic retinal vascular occlusion after intravitreal injections as a retinal vasculitis is the most recent example of speculative application of the term to complex and rare disorders. CONCLUSIONS: Retinal vasculitis is a diagnostic term that is over-used and imprecise. Revised nosology should limit the term to primary inflammation of the retinal vasculature itself that results in opening of the blood-retinal barrier with or without retinal vascular occlusions. Pending new histologic or mechanistic evidence, the provisional term of retinal vascular inflammation or retinal vasculopathy should be used for leakage or occlusion occurring in the context of intraocular inflammation.

3.
Ophthalmol Ther ; 13(1): 127-147, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37924480

RESUMO

INTRODUCTION: This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts. METHODS: This is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts from the Autoinflammatory Diseases Alliance (AIDA) Network and International Uveitis Study Group (IUSG). We included respondents answering ≥ 50% of the survey. RESULTS: Seventy-seven participants rated their knowledge of mU as proficient (3.9%), adequate (15.6%), sufficient (16.9%), or poor (63.6%). When asked about the first mU gene they thought of, 60.4% mentioned NOD2, 3.9% mentioned NLRP3 or MEFV, and 49.4% provided incorrect or no answers. Success rates in clinical scenarios varied from 15.6% to 55.8% and were higher for ophthalmologists working in multidisciplinary teams (p < 0.01). Genetic testing was ordered for suspected mU by 41.6% of physicians. The availability of molecular techniques did not significantly differ based on geography (p > 0.05). The public healthcare system ensured a higher percentage of tests prescribed were obtained by patients compared to private insurances (p < 0.00). In terms of disease-modifying anti-rheumatic drugs (DMARDs), tumor necrosis factor-α inhibitors were the most familiar to uveitis experts. The difficulties with off-label therapy procedures were the primary barrier to DMARDs prescription for patients with mU and correlated inversely with the obtained/prescribed drug ratio for interleukin-1 (p < 0.01) and interleukin-6 (p < 0.01) inhibitors. CONCLUSIONS: This survey identifies proficiency areas, gaps, and opportunities for targeted improvements in patients care. The comprehensive outputs may inform evidence-based guidelines, empowering clinicians with standardized approaches, and drive an AIDA Network-IUSG unified effort to advance scientific knowledge and clinical practice.

4.
Am J Ophthalmol Case Rep ; 32: 101879, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37521805

RESUMO

Purpose: To report panuveitis with exudative retinal detachments in a healthy 27-year-old woman with biallelic mutations in the RPE65 gene, who underwent bilateral sequential gene therapy with subretinal administration of voretigene neparvovec-rzyl. Observations: Visual acuity improved for 30 days after surgery as oral corticosteroids were tapered. At postoperative week 6, vision declined due to sudden onset uveitis and exudative retinal detachments in both eyes. HLA Class II typing revealed the haplotype associated with sympathetic ophthalmia and Vogt-Koyanagi-Harada (VKH). The inflammation improved after corticosteroid, mycophenolate mofetil, and adalimumab therapy while vision remained poor. Conclusions and Importance: Surgically-induced sympathetic ophthalmia is a plausible explanation for the clinical findings; surgery of both eyes within one week would conceal the inciting eye. VKH or inflammation related to the gene therapy are other possible etiologies but severe bilateral panuveitis has not been reported with voretigene neparvovec-rzyl. Informed consent for gene therapy surgery should include a discussion of the rare complication of sympathetic ophthalmia following vitrectomy surgery.

5.
Retina ; 43(9): 1608-1611, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-33394965

RESUMO

PURPOSE: To report surgical observations formulated during the first 120 cases of subretinal gene therapy in patients with inherited retinal degenerations (IRDs). METHODS: A two-surgeon team compiled surgical observations and formulated surgical pearls based on the consecutive cases of subretinal viral vector injection in patients enrolled in clinical trials focusing on choroideremia, achromatopsia, and RP GTPase regulator associated retinitis pigmentosa, as well as patients with retinal pigment epithelium-specific-65-kDa (RPE65) associated Leber congenital amaurosis receiving Food and Drug Administration-approved voretigene neparvovec-rzyl therapy. RESULTS: One hundred twenty subretinal surgeries were performed by a two-surgeon team. Key anatomical features pertinent to surgical management were noted and are described in this article. Surgical decision making for successful subretinal administration of viral vectors and management of potential surgical challenges were formulated. CONCLUSION: Lessons learned during subretinal gene therapy cases may be helpful to other surgeons entering clinical trials or performing postapproval gene therapy administration. Surgical pearls outlined in this article may also be helpful for other targeted subretinal therapies, such as cellular transplantation or retinal prosthesis implantation.


Assuntos
Amaurose Congênita de Leber , Degeneração Retiniana , Retinose Pigmentar , Humanos , Retina , Terapia Genética , Amaurose Congênita de Leber/genética , Amaurose Congênita de Leber/terapia , Degeneração Retiniana/terapia , cis-trans-Isomerases/genética
6.
Ocul Immunol Inflamm ; 31(7): 1386-1395, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36534597

RESUMO

PURPOSE: Exogenous endophthalmitis (ExE) results from microbial infection as a complication of ocular surgery, penetrating ocular trauma, and intraocular foreign bodies. We herein review the classification of ExE, etiological agents, differential diagnosis and therapeutic challenges. METHODS: Narrative Literature Review. RESULTS: Identification of the causative agent through ocular fluid analysis is central in the diagnostic work-up of ExE. Prompt intravitreal antimicrobial therapy is key to successful management of ExE and vitrectomy is essential in severe cases. In culture-negative cases, and in the presence of specific features, a diagnosis of sterile intraocular inflammation or toxic syndrome should be suspected. CONCLUSION: Strict adherence to treatment guidelines may improve outcomes of ExE, however the ultimate prognosis, especially in severe cases, may depend more on the virulence of the causative organism and associated ocular complications. Accurate differential diagnosis and effective treatment are crucial elements in the management and prognosis of non-infectious masquerades of ExE.


Assuntos
Endoftalmite , Corpos Estranhos no Olho , Uveíte , Humanos , Endoftalmite/tratamento farmacológico , Uveíte/tratamento farmacológico , Vitrectomia/métodos , Resultado do Tratamento , Corpos Estranhos no Olho/diagnóstico , Antibacterianos/uso terapêutico , Estudos Retrospectivos
7.
Retin Cases Brief Rep ; 17(4S): S36-S40, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-35993733

RESUMO

PURPOSE: This report describes a case of hereditary transthyretin amyloidosis in an 82-year-old woman who presented with bilateral retinal arteriolar vascular sheathing and vitreous hemorrhage in one eye. METHODS: The patient underwent a full history, physical examination, genetic workup, and cardiac imaging to establish the diagnosis. Fundus photographs, optical coherence tomography, fluorescein angiography, and indocyanine green angiography were performed throughout the patient's treatment course. RESULTS: Fundus examination demonstrated segmental sheathing of the retinal arterioles, telangiectasias, and intraretinal hemorrhages in both eyes without neovascularization. Fluorescein angiography revealed delayed filling of the nasal retinal arterioles in the right eye with severe temporal nonperfusion and areas hyperfluorescent segmental sheathing in both eyes. Ocular coherence tomography demonstrated retinal vessels with hyperreflective thickened walls. Cardiac amyloid nuclear scan was consistent with transthyretin-mediated amyloidosis amyloid heart disease, and genetic testing confirmed a heterozygous pathogenic transthyretin mutation: c.290 C>A (p.Ser97Tyr) also known as Ser77Tyr. CONCLUSION: Amyloidosis should be considered in the differential of vasculitis and vitreous hemorrhage with or without significant vitreous opacities. Ophthalmologists aware of this diagnosis should complete a full review of systems with specific focus on cardiac history and symptoms of peripheral neuropathy when amyloidosis is in the differential.


Assuntos
Neuropatias Amiloides Familiares , Oftalmopatias , Doenças Retinianas , Feminino , Humanos , Idoso de 80 Anos ou mais , Hemorragia Vítrea , Pré-Albumina/genética , Doenças Retinianas/diagnóstico , Oftalmopatias/diagnóstico , Angiofluoresceinografia , Tomografia de Coerência Óptica
8.
Am J Ophthalmol Case Rep ; 28: 101692, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36324631

RESUMO

Purpose: Ophthalmia nodosa (ON) is a rare but important disease describing ocular inflammation caused by injury from insect hairs ("setae"). Type V ON occurs when there is vitreoretinal involvement. Treatment with systemic steroids are first-line, but vitrectomy is indicated in resistant cases. The purpose of this study was to illustrate how multimodal imaging can facilitate diagnosis and management of ON. Observations: This is a single retrospective case report of a patient who presented to Bascom Palmer Eye Institute with Type V ON. Multimodal imaging in a patient with Type V ON was illustrated. A moth seta was localized to the anterior vitreous cavity. Intraocular inflammation responded to 2 weeks of high-dose oral prednisone. Conclusions and Importance: Multimodal imaging may guide diagnosis and management of ON by documenting baseline features of ON and facilitating comparison at follow up visits. This allows for safe non-surgical management of Type V ON. Long-term follow up would be necessary to determine whether subsequent surgical intervention was needed in this case.

9.
BMJ Open ; 12(7): e060701, 2022 07 28.
Artigo em Inglês | MEDLINE | ID: mdl-35902200

RESUMO

INTRODUCTION: Vitreoretinal lymphoma is a rare ocular cancer with high morbidity and mortality despite treatment. Diagnosis by cytopathology is often delayed, and various molecular and image-based investigations have been developed. Diverse treatments are used, but there is a limited medical evidence to differentiate their effectiveness. We designed an international registry that would collect diagnostic, treatment and outcomes data, to establish new evidence for the management of this cancer. METHODS AND ANALYSIS: The International Vitreoretinal B-Cell Lymphoma Registry will accrue data retrospectively for individuals aged 18 years or older, diagnosed with new or recurrent vitreoretinal B-cell lymphoma on or after 1 January 2020. A steering committee of subspecialised ophthalmologists identified 20 key clinical data items that describe patient demographics, tissue involvements, diagnostic testing, ocular and systemic treatments and treatment complications, and visual acuity and survival outcomes. Customised software was designed to permit collection of these data across a single baseline and multiple follow-up forms. The platform collects data without identifiers and at 3 month reporting intervals. Outcomes of the project will include: (1) descriptions of clinical presentations, and diagnostic and therapeutic preferences; (2) associations between clinical presentations, and diagnostics and treatments, and between diagnostics and treatments (assessed by ORs with 95% CIs); and (3) estimations of rates of vision loss, and progression-free and overall survival (assessed by Kaplan-Meier estimates). ETHICS AND DISSEMINATION: The registry has received Australia-wide approval by a national human research ethics committee. Sites located outside Australia are required to seek local human research ethics review. Results generated through the registry will be disseminated primarily by peer-reviewed publications that are expected to inform clinical practice, as well as educational materials.


Assuntos
Neoplasias Oculares , Linfoma de Células B , Neoplasias da Retina , Humanos , Recidiva Local de Neoplasia/patologia , Sistema de Registros , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/epidemiologia , Neoplasias da Retina/terapia , Estudos Retrospectivos , Corpo Vítreo/patologia
10.
Ophthalmol Retina ; 6(11): 992-1000, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35654364

RESUMO

PURPOSE: To evaluate the clinical features, operative techniques, and surgical outcomes of patients who underwent surgery for acute retinal necrosis (ARN)-related retinal detachment (RD). DESIGN: Retrospective, longitudinal, consecutive case series. PARTICIPANTS: Patients with polymerase chain reaction-positive ARN presenting from 2011 to 2021 who underwent vitreoretinal surgery for ARN-related RD at our institution. METHODS: Univariate, multivariate, and survival analyses were used to determine predictors of anatomic and functional outcomes. MAIN OUTCOME MEASURES: Single-surgery anatomic success rate, recurrent RD, and visual acuity (VA) at 1 year. RESULTS: Thirty-four eyes of 34 patients (32.4% women, mean age, 45.1 ± 20.4 years) were included for analysis with a median follow-up of 2.5 years (interquartile range [IQR], 0.8-5.5 years). Presenting VA was 1.1 ± 0.8 logarithm of the minimum angle of resolution (LogMAR) (Snellen ∼20/250). The median time from presentation to RD surgery was 1.7 months (IQR, 0.8-4.1 months), and the mean preoperative VA was 1.6 ± 0.8 LogMAR (Snellen ∼20/800). Small-gauge pars plana vitrectomy (PPV) with or without a scleral buckle (SB) was performed for all eyes with an overall single-surgery success rate of 63.6%, with no statistically significant differences in visual/anatomic outcomes between PPV and PPV/SB cases. Silicone oil was used for tamponade in 33 (97.1%) cases and was removed in 10 (30.3%) with good anatomic and final functional outcomes (Snellen âˆ¼20/80). Independent predictors of recurrent RD included the female sex (hazard ratio, 8.38; 95% confidence interval, 2.03-34.68; P < 0.01) and zone 1 retinitis involvement at presentation (hazard ratio, 10.95; 95% confidence interval, 2.12-56.48; P < 0.01). The mean VA at 1 year (VA1year) and at the final follow-up both had a Snellen equivalent of 20/640 (P > 0.05 for both compared with preoperative VA, respectively). Eyes that achieved single-surgery success had VA1year of 20/200 versus hand movements in those with single-surgery failure (P < 0.01). On multivariate linear regression, younger age (P = 0.04) and better presenting VA (P < 0.01) were both associated with better VA1year. CONCLUSIONS: Moderate single-surgery anatomic success can be achieved with modern vitreoretinal surgical techniques for ARN-related RD, although visual outcomes remain poor. Further studies investigating interventions for increasing single-surgery success rates, for the inflammatory complications of ARN, and for preventing ARN-related RD are needed.


Assuntos
Descolamento Retiniano , Síndrome de Necrose Retiniana Aguda , Humanos , Feminino , Lactente , Pré-Escolar , Masculino , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/cirurgia , Descolamento Retiniano/etiologia , Síndrome de Necrose Retiniana Aguda/complicações , Síndrome de Necrose Retiniana Aguda/diagnóstico , Síndrome de Necrose Retiniana Aguda/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Reação em Cadeia da Polimerase
11.
Am J Ophthalmol ; 241: 262-271, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35271811

RESUMO

PURPOSE: To assess safety of gene therapy in G11778A Leber hereditary optic neuropathy (LHON). DESIGN: Phase 1 clinical trial. METHODS: Setting: single institution. PARTICIPANTS: Patients with G11778A LHON and chronic bilateral visual loss >12 months (group 1, n = 11), acute bilateral visual loss <12 months (group 2, n = 9), or unilateral visual loss (group 3, n = 8). INTERVENTION: unilateral intravitreal AAV2(Y444,500,730F)-P1ND4v2 injection with low, medium, high, and higher doses to worse eye for groups 1 and 2 and better eye for group 3. OUTCOME MEASURES: Best-corrected visual acuity (BCVA), adverse events, and vector antibody responses. Mean follow-up was 24 months (range, 12-36 months); BCVAs were compared with a published prospective natural history cohort with designated surrogate study and fellow eyes. RESULTS: Incident uveitis (8 of 28, 29%), the only vector-related adverse event, resulted in no attributable vision sequelae and was related to vector dose: 5 of 7 (71%) higher-dose eyes vs 3 of 21 (14%) low-, medium-, or high-dose eyes (P < .001). Incident uveitis requiring treatment was associated with increased serum AAV2 neutralizing antibody titers (p=0.007) but not serum AAV2 polymerase chain reaction. Improvements of ≥15-letter BCVA occurred in some treated and fellow eyes of groups 1 and 2 and some surrogate study and fellow eyes of natural history subjects. All study eyes (BCVA ≥20/40) in group 3 lost ≥15 letters within the first year despite treatment. CONCLUSIONS: G11778A LHON gene therapy has a favorable safety profile. Our results suggest that if there is an efficacy effect, it is likely small and not dose related. Demonstration of efficacy requires randomization of patients to a group not receiving vector in either eye.


Assuntos
Atrofia Óptica Hereditária de Leber , DNA Mitocondrial/genética , Dependovirus/genética , Dependovirus/metabolismo , Eletrorretinografia , Terapia Genética/efeitos adversos , Terapia Genética/métodos , Vetores Genéticos , Humanos , NADH Desidrogenase/genética , NADH Desidrogenase/metabolismo , Atrofia Óptica Hereditária de Leber/genética , Atrofia Óptica Hereditária de Leber/terapia , Estudos Prospectivos , Células Ganglionares da Retina , Tomografia de Coerência Óptica , Transtornos da Visão/etiologia , Acuidade Visual , Campos Visuais
12.
Am J Ophthalmol ; 238: 16-26, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-34843686

RESUMO

PURPOSE: Although diagnosing vitreoretinal lymphoma (VRL) can be challenging, early detection is critical for visual prognosis. We analyzed the spectrum of optical coherence tomography (OCT) findings in patients with biopsy-proven VRL and correlate these features with clinical parameters. DESIGN: This retrospective cross-sectional study was a multicenter chart review from 13 retina, uveitis, and ocular oncology clinics worldwide from 2008 to 2019. We included patients with a diagnosis of biopsy-proven VRL imaged with OCT at presentation. Ocular information, systemic information, and multimodal retinal imaging findings were collected and studied. The main outcome measure was the characteristics of VRL on OCT. RESULTS: A total of 182 eyes of 115 patients (63 women, mean age 65 years) were included in this study. The disease was bilateral in 81 patients (70%), and mean baseline visual acuity was 0.2 ± 0.89 logMAR (Snellen equivalent, 20/32). At baseline, 38 patients (33%) presented with isolated ocular involvement, 54 (45%) with associated central nervous system involvement, and 11 (10%) with other systemic lymphomatous involvement; an additional 12 patients (10%) presented with central nervous system and other systemic involvement. On OCT, tumor infiltration was identified in various retinal layers, including lesions in the subretinal pigment epithelium compartment (91% of eyes), the subretinal compartment (43% of eyes), and the intraretinal compartment (7% of eyes). OCT analysis of eyes with VRL identified 3 main regions of retinal infiltration. Subretinal pigment epithelium location, with or without subretinal infiltration, was the most common pattern of involvement and isolated intraretinal infiltration was the least.


Assuntos
Neoplasias Oculares , Linfoma , Neoplasias da Retina , Idoso , Biópsia , Estudos Transversais , Neoplasias Oculares/patologia , Feminino , Angiofluoresceinografia/métodos , Humanos , Linfoma/diagnóstico , Linfoma/patologia , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/patologia , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Corpo Vítreo/diagnóstico por imagem , Corpo Vítreo/patologia
13.
Ophthalmol Retina ; 6(4): 273-283, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34896323

RESUMO

OBJECTIVE: To explore the effect of patients' age, baseline visual acuity (VA), and intraoperative foveal detachment on outcomes of subretinal voretigene neparvovec-rzyl (Luxturna) therapy and to assess patients' perceptions of the treatment effect. DESIGN: Multicenter, retrospective, consecutive case series, and cross-sectional prospective survey. PARTICIPANTS: All 41 consecutive patients treated with voretigene neparvovec-rzyl after Food and Drug Administration approval at 3 institutions between January 2018 and May 2020. METHODS: A retrospective chart review of operative reports, clinical notes, ancillary testing, and complications, comparing data at baseline and at 1, 2 to 3, 6 to 9, and 10 to 15 months after subretinal surgery was conducted. A survey was administered to adult patients and parents of pediatric patients. MAIN OUTCOME MEASURES: Changes in best-corrected VA and retinal morphology and in patients' perceptions. RESULTS: Seventy-seven eyes of 41 patients (16 adults and 25 pediatric patients; age range, 2-44 years; mean follow-up, 10 months [range, 1 week to 18.5 months]) were analyzed. There was no statistically significant vision change for the adults, whereas there was a trend of improvement for pediatric patients, which reached statistical significance for some time points. The baseline VA did not affect the posttherapy VA (P = 0.23). The central foveal thickness decreased mildly in both pediatric patients and adults, without significant differences between the populations. The fovea was detached by voretigene neparvovec-rzyl in 62 (81%) eyes. The inner segment-outer segment junction remained unchanged in 91% of 54 eyes with gradable OCT, with or without foveal detachment. Thirty-two (78%) patients were reached for the survey an average of 1.15 ± 0.50 years (range, 0.31 to 2.31) after the surgery in the first eye. Improvement in night, day, or color vision was reported by 23 (72%), 22 (69%), and 18 (56%) patients, respectively. CONCLUSIONS: This study is limited by the large variability in follow-up time. There were no persistent statistically significant vision changes. A decrease in foveal thickness was noted in most eyes, but the long-term significance of this remains to be determined.


Assuntos
Doenças Retinianas , cis-trans-Isomerases , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Terapia Genética , Humanos , Estudos Prospectivos , Retina , Estudos Retrospectivos , Acuidade Visual , Adulto Jovem , cis-trans-Isomerases/genética
14.
Ophthalmic Surg Lasers Imaging Retina ; 52(6): 345-349, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34185589

RESUMO

Diffuse unilateral subacute neuroretinitis (DUSN) is a rare form of chorioretinitis caused by retinal infestation by nematode larvae. Definitive diagnosis requires visualization of a motile nematode, but this can be challenging because the nematode is small, translucent, and usually motionless with overlying media opacity from cellular inflammation. The authors describe a case of DUSN in which widefield swept-source optical coherence tomography angiography was used to localize a midperipheral intraretinal nematode facilitating subsequent clinical observation of movement. Inflammation resolved after focal laser photocoagulation of the nematode with recovery of visual acuity to 20/20. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:345-349.].


Assuntos
Infecções Oculares Parasitárias , Nematoides , Infecções por Nematoides , Retinite , Animais , Infecções Oculares Parasitárias/diagnóstico , Humanos , Infecções por Nematoides/diagnóstico , Retina , Retinite/diagnóstico , Tomografia de Coerência Óptica
15.
Am J Ophthalmol ; 225: 128-136, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33450232

RESUMO

PURPOSE: Exophytic juxtapapillary retinal capillary hemangioblastoma (JRCH) can be difficult to diagnose. We explore the value of multimodal imaging to aid in the diagnosis. DESIGN: Retrospective case series. METHODS: Medical records and multimodal imaging studies were reviewed on all patients diagnosed with RCH at Bascom Palmer Eye Institute, Miami, Florida, between January 2013 and December 2019. Patients with exophytic lesions within 2 mm of the disc were included. One patient from the Baylor College of Medicine, Houston, Texas was included. Patient demographics, referring diagnosis, history of von Hippel-Lindau syndrome, initial and last visual acuity, and treatments were recorded. Fundus photography, fundus autofluorescence, fluorescein angiography, indocyanine green angiography, optical coherence tomography (OCT), OCT angiography, and B-scan images were reviewed. RESULTS: Twelve patients were identified with exophytic JRCH. The mean age was 54 years (range 38-73 years). Five patients had von Hippel-Lindau syndrome. The most common referral diagnoses were choroidal neovascularization and neuroretinitis. Imaging features included nodular outer retinal thickening with shadowing and intra-/subretinal fluid on OCT, hypoautofluorescence on fundus autofluorescence, middle to outer retinal hypervascularity on OCT angiography, early hyperfluorescence with late leakage on fluorescein angiography, and lack of choroidal vascular lesion on indocyanine green angiography. Treatments included photodynamic therapy (6 patients), intravitreal anti-vascular endothelial growth factor therapy (6 patients), argon laser photocoagulation (2 patients), intravitreal or sub-Tenon's triamcinolone (3 patients), and observation (4 patients). CONCLUSIONS: A key to the accurate diagnosis of exophytic JRCH is its intraretinal location, typically involving the outer retinal layers, which results in a clinical appearance that is distinct from the more common and easily recognizable endophytic RCH. Multimodal imaging can aid in ruling out choroidal neovascularization and disc edema by demonstrating an absence of involvement of those structures.


Assuntos
Corantes/administração & dosagem , Angiofluoresceinografia , Hemangioblastoma/diagnóstico , Verde de Indocianina/administração & dosagem , Neoplasias da Retina/diagnóstico , Tomografia de Coerência Óptica , Adulto , Idoso , Inibidores da Angiogênese/uso terapêutico , Feminino , Hemangioblastoma/terapia , Humanos , Fotocoagulação a Laser , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Fotoquimioterapia , Neoplasias da Retina/terapia , Vasos Retinianos/patologia , Estudos Retrospectivos , Líquido Sub-Retiniano , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual
16.
Ophthalmol Retina ; 5(2): 169-175, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32980532

RESUMO

PURPOSE: We compared the outcomes of primary uncomplicated rhegmatogenous retinal detachment (RRD) repair using pars plana vitrectomy (PPV) alone versus combined scleral buckling plus PPV (SB+PPV). DESIGN: Retrospective, observational study. PARTICIPANTS: Patients with primary RRD who underwent PPV or SB+PPV from June 1, 2014, through December 31, 2017. METHODS: We performed a single-institution, retrospective, observational study of 488 consecutive patients with primary RRD repaired via PPV alone or SB+PPV and gas tamponade. We excluded patients younger than 18 years and those with advanced proliferative vitreoretinopathy, giant retinal tear, trauma, or secondary forms of RRD. We performed logistic regression and Cox proportional hazard regression analyses to identify potential risk factors associated with a retinal redetachment. MAIN OUTCOME MEASURES: Single-operation anatomic success (SOAS), defined as adequate retinal reattachment achieved with only 1 procedure. RESULTS: The mean follow-up interval was 14.3 months. Single-operation anatomic success and final anatomic success were achieved in 425 eyes (87.1%) and 487 eyes (99.8%), respectively. Single-operation anatomic success was achieved in 90 of 111 eyes (81.1%) with PPV alone compared with 345 of 374 eyes (92.2%) with SB+PPV (P = 0.0010). Scleral buckling plus PPV showed greater SOAS than PPV alone in phakic eyes (P < 0.0001), but not in eyes with a posterior chamber intraocular lens (PCIOL). Retinal redetachments occurred on average at 1.5 and 9 months after the initial surgery. Significant best-corrected visual acuity improvement was associated with SOAS (P < 0.0001). CONCLUSIONS: Scleral buckling plus PPV resulted in greater SOAS outcomes than PPV alone for primary RRD repair. Phakic eyes achieved greater surgical success with SB+PPV, whereas eyes with a PCIOL achieved similar results with both methods. Most retinal redetachments occurred within the initial postoperative 3-month period. Single-operation anatomic success was associated with statistically significant visual improvement.


Assuntos
Descolamento Retiniano/cirurgia , Recurvamento da Esclera/métodos , Acuidade Visual , Vitrectomia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Adulto Jovem
17.
Nat Med ; 26(3): 354-359, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32094925

RESUMO

Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation clinical trial for X-linked RP caused by mutations in the RP GTPase regulator (RPGR) gene in 18 patients over up to 6 months of follow-up (https://clinicaltrials.gov/: NCT03116113). The primary outcome of the study was safety, and secondary outcomes included visual acuity, microperimetry and central retinal thickness. Apart from steroid-responsive subretinal inflammation in patients at the higher doses, there were no notable safety concerns after subretinal delivery of an adeno-associated viral vector encoding codon-optimized human RPGR (AAV8-coRPGR), meeting the pre-specified primary endpoint. Visual field improvements beginning at 1 month and maintained to the last point of follow-up were observed in six patients.


Assuntos
Proteínas do Olho/genética , Proteínas do Olho/uso terapêutico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/terapia , Terapia Genética , Mutação/genética , Retinose Pigmentar/genética , Retinose Pigmentar/terapia , Adulto , Humanos , Pessoa de Meia-Idade , Retina/patologia , Retina/fisiopatologia , Retinose Pigmentar/fisiopatologia , Adulto Jovem
18.
J Vitreoretin Dis ; 4(2): 91-95, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-37008372

RESUMO

Purpose: This article reports the influence of timing on the clinical outcomes in primary extramacular rhegmatogenous retinal detachment (RRD) at a tertiary referral center. Methods: A retrospective case series was conducted of all patients presenting between January 1, 2014 and December 31, 2016, with primary extramacular RRD. Retinal detachments with grade C proliferative vitreoretinopathy, combined tractional and RRD, eyes with inflammatory disease, and prior retinal surgery were excluded. The main outcome measures were single-operation anatomic success (SOAS), final anatomic success, and best-corrected visual acuity (BCVA). Results: There were 202 eyes of 198 patients with an average of 22 months' follow-up (range, 6-47 months). Eyes were operated on an average of 1.1 days after initial presentation. At last clinical examination, SOAS had been achieved in 174 (86%) eyes, final anatomic success in 200 (99%) eyes, and average postoperative logarithm of the minimum angle of resolution (logMAR) BCVA was 0.18 (Snellen equivalent, 20/30; SD, 0.36). In those treated the day of presentation, average postoperative logMAR BCVA was 0.18 (Snellen, 20/31) in comparison to 0.18 (Snellen, 20/30) in those treated the day after presentation and 0.14 (Snellen, 20/28) in those treated after 2 days or more (P = .92). Conclusions: Regarding timing of surgery, SOAS and BCVA outcomes in primary extramacular RRDs were favorable with an urgent and semiurgent approach to repair. There was no difference in visual and anatomic outcomes between patients who were operated on the day of presentation and those treated a short time later when clinical decisions were made by the treating surgeon on a case-by-case basis.

19.
Clin Ophthalmol ; 13: 2135-2141, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31802843

RESUMO

PURPOSE: The purpose of this study is to investigate associations with and surgical outcomes of rhegmatogenous retinal detachment (RRD) in young adults. METHODS: This is a retrospective consecutive case series of patients aged 18-30 years who underwent surgical repair for RRD between January 1, 2014 and December 1, 2016 at a university referral center. RESULTS: The current study includes 38 eyes with RRD. Documented high or moderate myopia was present in 28 (74%) eyes. Connective tissue disease was present in 3 (8%) eyes. Median pre-operative visual acuity (VA) was 20/70. Surgery was performed via scleral buckle (SB) alone in 27/38 (71%) and via combined SB and pars plana vitrectomy (SB/PPV) in 11/38 (29%) eyes. Single surgery anatomical success (SSAS) rate was 20/27 (74%) for SB and 7/11 (64%) for SB/PPV. The retina was reattached at last follow-up in 25/27 (93%) for SB and 11/11 (100%) for SB/PPV. The median postoperative VA was 20/40. CONCLUSION: In the current study of young adults with RRD, the most common association was high or moderate myopia. Visual and anatomic outcomes at last follow-up were generally favorable.

20.
Ophthalmic Surg Lasers Imaging Retina ; 50(5): 281-287, 2019 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-31100158

RESUMO

BACKGROUND AND OBJECTIVE: To describe the multimodal imaging characteristics associated with punctate outer retinal toxoplasmosis (PORT). PATIENTS AND METHODS: Multicenter, retrospective, observational case series of three patients who presented with PORT. Multimodal imaging was reviewed including optical coherence tomography (OCT), fundus autofluorescence, optical coherence tomography angiography, and conventional dye-based angiography. RESULTS: Patient ages ranged from 13 years to 55 years. Each patient had multiple white, punctate outer retinal lesions in the affected eye at initial diagnosis. OCT showed both inner and outer retinal changes, including disruption of the ellipsoid and interdigitation zones and retinal pigment epithelium/Bruch's membrane complex, as well as punctate, preretinal, hyperreflective lesions at the vitreoretinal interface, which regressed with treatment. CONCLUSION: Multimodal imaging is useful in diagnosing and monitoring treatment response in PORT, an uncommon presentation of ocular toxoplasmosis that must be differentiated from white dot syndromes or other causes of unilateral retinitis. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:281-287.].


Assuntos
Infecções Oculares Parasitárias/diagnóstico , Angiofluoresceinografia/métodos , Imagem Multimodal , Segmento Externo das Células Fotorreceptoras da Retina/patologia , Tomografia de Coerência Óptica/métodos , Toxoplasmose Ocular/diagnóstico , Adolescente , Adulto , Animais , Anticorpos Antiprotozoários , Feminino , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Toxoplasma/imunologia , Adulto Jovem
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