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BACKGROUND: The most feared complication of intravitreal injections is the development of endophthalmitis, which could lead to irreversible visual loss. The aim of this study was to characterize the clinical profiles, causative pathogens, and clinical outcome of patients post-endophthalmitis. METHODS: Retrospective, single center case series study. Clinical records, causative pathogens and management of all cases of endophthalmitis post intravitreal anti-vascular endothelial growth factor (VEGF) injections recorded between January 1st, 2006 and May 30th, 2022; were retrieved. The visual and anatomic changes prior to the episode of endophthalmitis and up to 2 years post-treatment were compared. RESULTS: Eleven post-injection endophthalmitis eyes of 10 patients (n = 3 females; 30%) were recruited at mean age of 64.5 ± 20.4 years. The median last recorded BCVA, up to 3 months prior to the episode of endophthalmitis was 60 (Interquartile range (IQR) 55-75) ETDRS letters. Then, it dropped to 30 (IQR 0-57.5), 35 (IQR 0-52.5) and 35 (IQR 0-57.5) ETDRS letters at presentation, 6- and 12-months follow-up; respectively (p = 0.027, p = 0.017 and p = 0.012). However, at 24 months, the median BCVA returned to similar baseline values prior to the episode of endophthalmitis; BCVA 50 (IQR 0-60) ETDRS letters, p = 0.062. Interestingly, two eyes with neovascular age-related macular degeneration (NVAMD), 1 with myopic choroidal neovascularization (CNV) and 1 with retinal vein occlusion (RVO), experienced disease quiescence and did not require additional anti-VEGF injections up to 2 years of follow-up. CONCLUSION: This study demonstrates long-term recovery of vision loss due to endophthalmitis post anti-VEGF injections, regained up to 2 years later. It also indicates that disease quiescence post endophthalmitis may not only occur in eyes treated for NVAMD, but also with myopic CNV and RVO.
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Neovascularización Coroidal , Endoftalmitis , Oclusión de la Vena Retiniana , Femenino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Ranibizumab/uso terapéutico , Inhibidores de la Angiogénesis , Bevacizumab/uso terapéutico , Factor A de Crecimiento Endotelial Vascular , Estudios Retrospectivos , Oclusión de la Vena Retiniana/tratamiento farmacológico , Neovascularización Coroidal/tratamiento farmacológico , Inyecciones Intravítreas , Endoftalmitis/etiología , Endoftalmitis/complicacionesRESUMEN
PURPOSE: To identify factors associated with persistent subretinal fluid (SRF) after small-gauge pars plana vitrectomy for primary rhegmatogenous retinal detachment. METHODS: This retrospective study included patients from 2 tertiary centers who underwent pars plana vitrectomy for repair of rhegmatogenous retinal detachment between 2013 and 2016. Preoperative and intraoperative parameters were examined for association with development of SRF. RESULTS: Overall, 153 eyes of 153 patients, mean age of 55.2 ± 17.9 years were included. Persistent SRF occurred in 15.0% (n = 23) and was associated with high myopia (65.22 vs. 26.15%, P < 0.001), macula-involving retinal detachment (91.30 vs. 66.15%, P = 0.02), phakic lens status (86.96 vs. 66.15%, P = 0.04), and younger age (47.8 ± 18.7 vs. 56.5 ± 17.5, P = 0.04) while drainage retinotomy was protective (13.04 vs. 34.11%, P = 0.04). In multivariate analysis, high myopia (P = 0.009) and macula-involving retinal detachment (P = 0.004) were associated with SRF, while drainage retinotomy was protective (P = 0.03). Persistent SRF was associated with outer retinal band irregularity (30.4 vs. 9.3%, P = 0.005). There were no significant differences in terms of change in best-corrected visual acuity from presentation (P = 0.70), or final best-corrected visual acuity (P = 0.54). CONCLUSION: Eyes with preoperative high myopia and macular involvement, and those in which a drainage retinotomy was not performed, were more likely to develop persistent SRF.
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Mácula Lútea/patología , Desprendimiento de Retina/cirugía , Líquido Subretiniano/diagnóstico por imagen , Agudeza Visual , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Desprendimiento de Retina/diagnóstico , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Vitrectomía , Adulto JovenRESUMEN
Purpose: To report a case of branch retinal artery occlusion (BRAO) following exposure to a blue laser pointer in a healthy 22-year-old male. Observations: A 22-year-old healthy male presented with sudden visual field impairment in his right eye, occurring 18 hours after exposure to a blue laser pointer. He complained of an immediate persistent curtain-like obstruction in the upper visual field of the affected eye. Clinical examinations revealed BRAO in the inferior half of the retina, confirmed by Optical coherence tomography (OCT) showing edema. Fluorescein angiography indicated delayed filling and a focal hyperfluorescence area, consistent with a leak. Due to a lack of established management, the patient was offered follow-up care. Though reperfusion was observed on fluorescein angiography one month later, thinning of the retinal layers was evident on OCT, and there was no visual recovery. Conclusions and Importance: In conclusion, laser pointers, though often considered innocuous, can lead to serious ocular damage. The clinical implications of laser-induced retinal injury are severe and sometimes irreversible, warranting special attention. The observed clinical course underscores the complex nature of such injuries and emphasizes the importance of awareness and caution regarding laser pointer use.
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We report the visual and clinical outcomes of a middle-aged woman who presented with exudative retinal detachment (ERD) secondary to a vasoproliferative tumor (VPT) in an eye with sarcoidosis-associated intermediate uveitis. A 55-year-old woman previously diagnosed with sarcoidosis presented with decreased vision in the left eye (LE). Visual acuity in the LE was counting fingers. She had active vitritis, and a peripheral retinal vascular mass was noted in the superotemporal periphery. The mass was associated with ERD involving the posterior pole. The patient was managed with systemic and intravitreal steroids, and cyclosporine was subsequently added as a steroid-sparing agent. Because of recurrence of ERD, the patient underwent pars plana vitrectomy, and cryotherapy and laser photocoagulation were applied to the VPT. Two months postoperatively, visual acuity in the LE improved to 6/10. There was marked regression of the VPT and total resolution of the ERD. In conclusion, we report a favorable visual and clinical outcome in a patient with VPT-associated ERD who responded to a combination of medical therapy and surgical intervention. VPT may lead to different remote complications, so timely diagnosis of these tumors and proper management of their complications is warranted.
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Angiografía con Fluoresceína , Neoplasias de la Retina , Sarcoidosis , Uveítis Intermedia , Agudeza Visual , Humanos , Femenino , Persona de Mediana Edad , Sarcoidosis/complicaciones , Sarcoidosis/diagnóstico , Angiografía con Fluoresceína/métodos , Neoplasias de la Retina/diagnóstico , Neoplasias de la Retina/complicaciones , Neoplasias de la Retina/terapia , Uveítis Intermedia/diagnóstico , Uveítis Intermedia/complicaciones , Tomografía de Coherencia Óptica/métodos , Fondo de Ojo , Vitrectomía/métodos , Glucocorticoides/uso terapéutico , Desprendimiento de Retina/etiología , Desprendimiento de Retina/diagnósticoRESUMEN
We describe a case report of pediatric pars planitis complicated with massive exudative retinal detachment (ERD). A 7-year-old presented with visual acuity (VA) in the right eye (RE) of 6/9 and in the left eye (LE) 6/15. Fundoscopy revealed BE inferior retinoschisis, vitritis and snowballs. He was treated with systemic immunosuppressants. RE retinoschisis resolved within 2 months. Three years later presented with LE VA 6/60 and total ERD. Systemic and intravitreal steroids were administered. Due to refractoriness, he underwent 360° scleral buckle and drainage of subretinal fluid. No retinal breaks or traction were detected. Five months postoperatively LE VA was 6/7.5. Long-term stable outcome was maintained. We report a challenging total ERD as a complication of pars planitis. Although extensive and non-responsive to medical therapy, complete resolution and improvement in vision was achieved with surgical intervention and systemic immunosuppression. We speculate that uncontrolled chronic vasculitic process culminated in diffuse ERD.
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Premacular membranes developing following pars plana vitrectomy (PPV) can cause significant anatomical and functional deficits to the macula. Recent reports showed that postoperative premacular membranes are a localized presentation of macular proliferative vitreoretinopathy (mPVR). Here, we report retrospectively a case series of 5 patients with severe mPVR which developed following uneventful PPV and were followed up to 32 months in the Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, between October 2016 and February 2020. All patients underwent primary repair of rhegmatogenous retinal detachment (RRD) before mPVR developed. Mean best-corrected visual acuity (BCVA) at presentation was 20/76 Snellen (0.58 LogMAR). Median duration of the retinal detachment time until surgery was 1.5 days (range 1-21 days). Mean interval time from last normal follow-up exam to diagnosis of mPVR was 19 days (range 10-28). BCVA dropped from a mean of 20/38 Snellen (0.28 LogMAR) prior to mPVR development to 20/166 Snellen (0.92 LogMAR) following its development, recovering to 20/57 Snellen (0.45 LogMAR) after peeling of membranes. Mean central macular thickness measured by optical coherence tomography decreased from 711 to 354 µm postsurgery. In conclusion, short-term mPVR is a different entity from macular pucker in terms of rapid development, structural distortion, and visual compromise. Surgical treatment significantly restores macular function and anatomy.
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PURPOSE: To evaluate the anatomical correlation between fellow eyes for bilateral second-line anti-VEGF treatment in eyes with bilateral diabetic macular edema (DME) with incomplete response to first-line bevacizumab therapy. METHODS: Seventy-four eyes (n = 37 patients) with bilateral-DME having incomplete response to first-line bevacizumab therapy that were switched for bilateral treatment with ranibizumab were retrospectively evaluated. Data collected included demographics, visual acuity and macular thickness. We evaluate the correlation for the response of both eyes in terms of macular thickness and visual acuity. RESULTS: The mean±SD age was 76 ± 8 years. The mean±SD number of bevacizumab injections prior the switch was 11.03 ± 5.1 in the first eye (FE) and 10.9 ± 5.2 in the second eye (SE). The central subfield thickness (CST) reduced from 472 ± 171 microns at baseline to 418 ± 161 after the last bevacizumab injection and 365 ± 74 after 3 ranibizumab injections in the FE (p = .016, p = .004, respectively), and from 463 ± 145 microns to 446 ± 123, and 421 ± 103 in the SE (p = .112, p = .001, respectively). There was strong positive correlation between the eyes for the CST reduction under bevacizumab and ranibizumab treatments in each visit. BCVA± SD at baseline was 0.41 ± 0.30 LogMAR in the FE, and 0.42 ± 0.29 in the SE (p = .44). After 3 injections of bevacizumab, the BCVA was 0.37 ± 0.26 and 0.42 ± 0.23 in FE and SE respectively (p = .013, p = .132, respectively). CONCLUSIONS: This study demonstrated a strong anatomical correlation responses between the eyes in patients with bilateral DME for both first-line bevacizumab therapy and second-line ranibizumab therapy. Response to second-line therapy was favorable and correlated among eyes regardless they were from the same or different individuals.
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Inhibidores de la Angiogénesis/uso terapéutico , Bevacizumab/uso terapéutico , Retinopatía Diabética/tratamiento farmacológico , Edema Macular/tratamiento farmacológico , Ranibizumab/uso terapéutico , Anciano , Anciano de 80 o más Años , Retinopatía Diabética/diagnóstico por imagen , Retinopatía Diabética/fisiopatología , Sustitución de Medicamentos , Femenino , Humanos , Inyecciones Intravítreas , Masculino , Retina/diagnóstico por imagen , Retina/patología , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza Visual/fisiologíaRESUMEN
AIM: To analyze the risk factors, ophthalmological features, treatment modalities and their effect on the visual outcome in patients with endogenous fungal endophthalmitis (EFE). METHODS: Data retrieved from the medical files included age at presentation to the uveitis clinic, gender, ocular symptoms and their duration before presentation, history of fever, eye affected, anatomical diagnosis and laboratory evidence of fungal infection. Medical therapy recorded included systemic antifungal therapy and its duration, use of intravitreal antifungal agents and use of oral/intravitreal steroids. Surgical procedures and the data of ophthalmologic examination at presentation and at last follow-up were also collected. RESULTS: Included were 13 patients (20 eyes, mean age 58y). Ten patients presented after gastrointestinal or urological interventions and two presented after organ transplantation. In one patient, there was no history of previous intervention. Diagnostic vitrectomy was performed in 16 eyes (80%) and vitreous cultures were positive in 10 of the vitrectomized eyes (62.5%). In only 4 patients (31%), blood cultures were positive. All patients received systemic antifungal therapy. Sixteen eyes (80%) received intravitreal antifungal agent with voriconazole being the most commonly used. Visual acuity (VA) improved from 0.9±0.9 at initial exam to 0.5±0.8 logMAR at last follow-up (P=0.03). A trend of greater visual improvement was noted in favor of eyes treated with oral steroids (±intravitreal dexamethasone) than eyes that were not treated with steroids. The most common complication was maculopathy. Twelve eyes (60%) showed no ocular complications. CONCLUSION: High index of suspicion in patients with inciting risk factors is essential because of the low yield of blood cultures and the good general condition of patients at presentation. Visual prognosis is improved with the prompt institution of systemic and intravitreal pharmacotherapy and the immediate surgical intervention. Oral±local steroids could be considered in cases of prolonged or marked inflammatory responses in order to hasten control of inflammation and limit ocular complications.
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PURPOSE: The purpose of this study was to report our experience with intravitreal bevacizumab for inflammation-related choroidal neovascularization in two tertiary centers. METHODS: This study was a retrospective analysis of patients with choroidal neovascularization related to inflammatory diseases, treated with intravitreal bevacizumab injections (1.25 mg/0.05 mL). RESULTS: Ten eyes of 10 patients (range, 14-78 years; mean age, 44 years) with underlying uveitis were treated with intravitreal bevacizumab for inflammation-related choroidal neovascularization from 2006 to 2008. Mean follow-up time was 13 +/- 8 months, and the mean number of injections was 2.7 +/- 2. Resolved leakage on fluorescein angiography and resolution of subretinal fluid on optical coherence tomography occurred in all patients, with improvement in visual acuity in 9 of 10 eyes and no change in visual acuity in 1 of 10 eyes. Seven patients received additional treatment based on the underlying condition. Mean macular thickness on optical coherence tomography decreased from 394 +/- 116 microm to 254 +/- 52 microm (P < 0.01). Mean visual acuity improved from 0.87 +/- 0.74 logarithm of the minimum angle of resolution to 0.38 +/- 0.63 (P = 0.005). Seven patients reached a visual acuity of 0.2 logarithm of the minimum angle of resolution (Snellen 6/9) or better. CONCLUSION: Intravitreal bevacizumab is an effective treatment for choroidal neovascularization related to inflammatory diseases when inflammation is controlled.
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Inhibidores de la Angiogénesis/administración & dosificación , Anticuerpos Monoclonales/administración & dosificación , Neovascularización Coroidal/tratamiento farmacológico , Uveítis/tratamiento farmacológico , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Adolescente , Adulto , Anciano , Anticuerpos Monoclonales Humanizados , Bevacizumab , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/fisiopatología , Quimioterapia Combinada , Femenino , Angiografía con Fluoresceína , Glucocorticoides/administración & dosificación , Humanos , Inmunosupresores/administración & dosificación , Inyecciones , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Uveítis/diagnóstico , Uveítis/fisiopatología , Agudeza Visual/fisiología , Cuerpo Vítreo , Adulto JovenRESUMEN
PURPOSE: A case report of a patient with severe proliferative retinopathy due to congenital lipodystrophy. METHODS: We reviewed the medical history, imaging, and surgical procedures of a 25-year-old woman with a history of congenital lipodystrophy, presenting with bilateral combined tractional and exudative retinal detachment, poorly controlled diabetes mellitus, and extreme dislipidemia. RESULTS: The patient underwent retinal detachment repair surgery both eyes. On the last follow-up, both retinae were flat, and visual acuity had improved in the right eye to J3 for near and finger counting 3 m for distance. CONCLUSION: Surgery combining pars plana vitrectomy and scleral bucking successfully flattened both retinae and significantly improved visual acuity in one eye in this case of bilateral retinal detachment with combined tractional and exudative components in a patient with congenital lipodystrophy. Surgical control of retinal complications is thus possible, provided there is adequate control of the underlying risk factors.
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Lipodistrofia Generalizada Congénita/complicaciones , Retina/patología , Agudeza Visual , Vitrectomía/métodos , Vitreorretinopatía Proliferativa/diagnóstico , Cuerpo Vítreo/patología , Adulto , Femenino , Humanos , Índice de Severidad de la Enfermedad , Vitreorretinopatía Proliferativa/complicaciones , Vitreorretinopatía Proliferativa/cirugíaRESUMEN
Endophthalmitis after a penetrating trauma occurs in 3% to 30% of cases. Prompt recognition and treatment are paramount to avoid irreversible visual loss. We present a case of severe panuveitis following ocular trauma with a tree branch that did not cause any evident ocular wound and discuss the difficulties in achieving a diagnosis that can allow proper treatment. A healthy 21-year-old man presented with acute anterior uveitis. He was managed elsewhere with oral acyclovir and topical steroids for presumed herpetic uveitis. He subsequently developed severe panuveitis with profound decrease in vision. Diagnostic vitrectomy was performed and vitreous samples were positive for Staphylococcus epidermidis. Systemic and intravitreal antibiotic therapy was initiated and after 5 days, the patient recovered with a remarkable improvement in visual acuity to 6/12. Post-traumatic endophthalmitis can result from an imperceptible trauma with no obvious compromise of the globe.
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Endoftalmitis/etiología , Infecciones Bacterianas del Ojo/etiología , Lesiones Oculares/complicaciones , Infecciones Estafilocócicas/etiología , Staphylococcus epidermidis/aislamiento & purificación , Diagnóstico Diferencial , Humanos , Masculino , Panuveítis/diagnóstico , Adulto JovenRESUMEN
Macrophages were previously implicated in the pathogenesis of neovascular age-related macular degeneration (nvAMD). It is unclear if a specific macrophage phenotype is associated with nvAMD, and if macrophages from nvAMD patients are more pathogenic as compared with controls. To address these issues, we evaluated macrophages derived from peripheral blood monocytes of nvAMD patients and age-matched controls. Macrophages were assessed in terms of their expression profile and of their angiogenic potential in the choroid sprouting assay and the rat model of laser-induced choroidal neovascularization. Results showed a proangiogenic and inflammatory gene and protein expression profiles in classic (M[IFNγ and LPS]) and alternative (M[IL-4 and IL-13]) polarized macrophages. Furthermore, activated macrophages, particularly of the M(IFNγ and LPS) phenotype from nvAMD patients, were proangiogenic ex vivo and in vivo. These findings implicate activated human macrophages, particularly M(IFNγ and LPS) macrophages from nvAMD patients, in nvAMD. Further research is required to determine whether activated macrophages can serve as therapeutic targets in nvAMD.
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Activación de Macrófagos/genética , Activación de Macrófagos/fisiología , Macrófagos/patología , Degeneración Macular/etiología , Neovascularización Patológica/genética , Anciano , Anciano de 80 o más Años , Animales , Coroides/patología , Neovascularización Coroidal , Femenino , Humanos , Degeneración Macular/patología , Masculino , Persona de Mediana Edad , Monocitos , Fenotipo , RatasRESUMEN
OBJECTIVE: A minority of patients with adult-onset foveomacular vitelliform dystrophy (AFVD) carry mutations in the PRPH2 gene. This gene is highly polymorphic and it was suggested that single-nucleotide polymorphisms (SNPs) in PRPH2 may also be associated with AFVD. We aimed to evaluate for such an association. METHODS: A single center cohort from a tertiary referral center including 52 consecutive patients with a clinical diagnosis of AFVD and 91 unaffected individuals was assessed. Sanger sequencing was performed for the PRPH2, BEST1, and IMPG1/2 genes. Investigation as to the frequency of minor alleles for SNPs in PRPH2 was performed and compared to HapMap and Exome Variant Server (EVS) data. RESULTS: None of the patients carry a mutation in PRPH2, BEST1, or IMPG1/2. Five of 14 known SNPs (rs835, rs361524, rs434102, rs425876, rs390659) in exon 3 of PRPH2 were identified in AFVD patients. A high frequency and percentage of minor alleles of these five SNPs was found in the Israeli AFVD patients and controls compared with European, Chinese, Japanese and African populations identified via HapMap and EVS (p < 0.05). Power calculation suggested that the sample size was sufficient (80%) to rule out an association with an odds ratio above 2.5. CONCLUSIONS: These results suggest that genetic variants in PRPH2 do not compose a major genetic risk factor for AFVD. The Israeli population shows a higher percentage of minor allele frequencies in SNPs in the PRPH2 gene, as compared with other populations. This emphasizes the need for appropriate genetic background when performing SNP association testing.
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Periferinas/genética , Polimorfismo de Nucleótido Simple , Distrofia Macular Viteliforme/genética , Adulto , Exones/genética , Femenino , Frecuencia de los Genes , Humanos , Masculino , Persona de Mediana Edad , Mutación , FenotipoAsunto(s)
Infecciones Virales del Ojo/complicaciones , Enfermedades de los Párpados/complicaciones , Seropositividad para VIH/complicaciones , Molusco Contagioso/complicaciones , Fármacos Anti-VIH/uso terapéutico , Recuento de Linfocito CD4 , Preescolar , Quimioterapia Combinada , Infecciones Virales del Ojo/diagnóstico , Infecciones Virales del Ojo/tratamiento farmacológico , Enfermedades de los Párpados/diagnóstico , Enfermedades de los Párpados/tratamiento farmacológico , Seropositividad para VIH/tratamiento farmacológico , Humanos , Lamivudine/uso terapéutico , Masculino , Molusco Contagioso/diagnóstico , Molusco Contagioso/tratamiento farmacológico , Nevirapina/uso terapéutico , Combinación Trimetoprim y Sulfametoxazol/uso terapéutico , Carga Viral , Zidovudina/uso terapéuticoRESUMEN
PURPOSE: To evaluate choroidal neovascularization (CNV) associated with adult-onset foveomacular vitelliform dystrophy (AOFVD) and its response to bevacizumab therapy. METHODS: Demographics, clinical characteristics, response to bevacizumab therapy, and central foveal thickness (CFT) were retrospectively assessed in 11 eyes with CNV associated with AOFVD. Sixty consecutive patients with neovascular age-related macular degeneration (AMD) were compared to the patients with AOFVD for all clinical characteristics and responses evaluated. RESULTS: The mean (±SD) initial logMAR visual acuity (0.7 ± 0.8 vs. 1 ± 0.75), age at onset, number of bevacizumab injections (12.4 ± 10.4 vs 9 ± 6.7), and final logMAR visual acuity (0.87 ± 0.7 vs 1 ± 0.85) were similar between AOFVD and AMD. The mean CFT in AOFVD was reduced from 418 ± 144 µm to 330 ± 64 µm following treatment (p = 0.03). At the final examination, visual acuity had improved in 3 eyes, stabilized in 1 eye, and was reduced in 7 of the AOFVD eyes examined. CONCLUSIONS: Bevacizumab therapy for AOFVD-associated CNV resulted in reduced foveal thickness, but a guarded visual outcome was still found, due to progression of the vitelliform lesions.
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Inhibidores de la Angiogénesis/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Neovascularización Coroidal/tratamiento farmacológico , Distrofia Macular Viteliforme/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Bevacizumab , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/fisiopatología , Femenino , Angiografía con Fluoresceína , Fóvea Central/patología , Humanos , Inyecciones Intravítreas , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza Visual/fisiología , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/fisiopatología , Degeneración Macular Húmeda/tratamiento farmacológicoRESUMEN
OBJECTIVE: To evaluate if adult-onset foveomacular vitelliform dystrophy (AOFVD) and butterfly-shaped pigment dystrophy (BSPD) are associated with risk single-nucleotide polymorphisms (SNPs) for age-related macular degeneration (AMD). METHODS: This was a tertiary referral center-based cross-sectional study including 35 consecutive patients with BSPD and AOFVD, 317 patients with AMD, and 159 unaffected individuals. Demographics, clinical information, and ophthalmic imaging studies were collected. Sequencing was performed for the peripherin/RDS and BEST1 genes, and genotyping was performed for SNPs in the genes for complement factor H (CFH) (rs1061170), HTRA1 (rs11200638), and complement component 3 (C3) (rs2231099). RESULTS: Adult-onset foveomacular vitelliform dystrophy and BSPD were diagnosed in 24 (68.6%) and 11 (31.4%) of the 35 patients, respectively. The mean (SD) age of patients with pattern dystrophy (PD) was 75.3 (10) years and median visual acuity was 0.7. Pattern dystrophy was associated with the HTRA1 risk allele compared with unaffected individuals (odds ratio, 1.72; 95% CI, 1.11-2.66; P = .03). The HTRA1 SNP showed similar prevalence in patients with AMD and PD. The CFH risk allele was significantly less common in patients with PD compared with patients with AMD (odds ratio, 0.47; 95% CI, 0.28-0.76; P = .002). No mutations in peripherin/RDS or BEST1 were detected. CONCLUSIONS: The AOFVD and BSPD phenotypes are associated with an HTRA1 risk SNP. These phenotypes often present in elderly individuals who do not carry peripherin/RDS gene mutations and are associated with retinal pigment epithelium alterations and increased risk for choroidal neovascularization. Further research is required to evaluate if AOFVD and BSPD phenotypes in aged individuals are associated with AMD.