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1.
Ophthalmology ; 130(3): 265-273, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36270406

RESUMO

PURPOSE: To report the clinical and imaging findings of 4 patients with benign intraretinal tumors, 2 of which were associated with retinal pigment epithelium (RPE) hypertrophy. To our knowledge, this condition has not been described previously and should be distinguished from retinoblastoma and other malignant retinal neoplasms. DESIGN: Retrospective case series. PARTICIPANTS: Four patients from 3 institutions. METHODS: Four patients with intraretinal tumors of the inner nuclear layer (INL) underwent a combination of ophthalmic examination, fundus photography, fluorescein angiography, OCT, OCT angiography, and whole exome sequencing. MAIN OUTCOME MEASURES: Description of multimodal imaging findings and systemic findings from 4 patients with benign intraretinal tumors and whole exome studies from 3 patients. RESULTS: Six eyes of 4 patients 5, 13, 32, and 27 years of age were found to have white intraretinal tumors that remained stable over the follow-up period (range, 9 months-4 years). The tumors were unilateral in 2 patients and bilateral in 2 patients. The tumors were white, centered on the posterior pole, and multifocal, with some consisting of multiple lobules with arching extensions that extended beyond the central tumor mass. OCT demonstrated these lesions to be centered within the INL at the border of the inner plexiform layer. In addition, 2 patients demonstrated congenital hypertrophy of the RPE (CHRPE) lesions. Three of 4 patients underwent whole exome sequencing of the blood that revealed no candidate variants that plausibly could account for the phenotype. CONCLUSIONS: We characterize a novel benign tumor of the INL that, in 2 patients, was associated with separate CHRPE lesions. We propose the term benign lobular inner nuclear layer proliferation to describe these lesions. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.


Assuntos
Doenças Retinianas , Neoplasias da Retina , Humanos , Epitélio Pigmentado da Retina/patologia , Estudos Retrospectivos , Retina/patologia , Doenças Retinianas/diagnóstico , Neoplasias da Retina/patologia , Angiofluoresceinografia , Tomografia de Coerência Óptica/métodos , Hipertrofia/congênito , Hipertrofia/patologia
2.
Retina ; 41(6): 1242-1250, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-33079789

RESUMO

PURPOSE: To evaluate the clinical course of patients with neovascular age-related macular degeneration (nAMD) after developing endophthalmitis during their treatment with intravitreal injections. METHODS: Multicenter, retrospective series. RESULTS: From April 2013 to October 2018, 196,598 intravitreal anti-vascular endothelial growth factor (VEGF) injections were performed, with 75 cases of endophthalmitis (incidence 0.0381%). There was no association between intravitreal anti-VEGF drug (P = 0.29), anesthetic method (P = 0.26), povidone concentration (P = 0.22), or any intraprocedure variable and endophthalmitis incidence. Seventy-two patients (96%) were treated with intravitreal tap and inject , while 3 underwent immediate pars plana vitrectomy. After endophthalmitis resolution, 17 patients (22.7%) were not re-treated for nAMD (in 10 cases due to inactive disease; follow-up, 115 ± 8.4 weeks). Patients required less frequent anti-VEGF injections after infection (7.4 ± 0.61 weeks vs. 11.5 ± 1.8 weeks; P = 0.004). Preinfection logarithm of the minimum angle of resolution visual acuity was 0.585 ± 0.053 (∼20/77). It worsened with endophthalmitis (1.67 ± 0.08, ∼20/935; P < 0.001) and again on postendophthalmitis treatment day 1 (1.94 ± 0.064; count fingers; P < 0.001), but improved after reinitiating nAMD therapy (1.02 ± 0.11; ∼20/209; P < 0.001). Better visual acuity on postendophthalmitis week 1 (P = 0.002) and reinitiation of nAMD treatment (P = 0.008) were associated with better final visual acuity, and streptococcal culture with worse visual acuity (P = 0.028). The postendophthalmitis treatment interval was associated with the anti-VEGF drug used (aflibercept = ranibizumab > bevacizumab; P < 0.001). CONCLUSION: Patients with nAMD required fewer injections after endophthalmitis, suggesting a biological change in disease activity. Neovascular age-related macular degeneration became quiescent in 13.3% of eyes. Most achieved better outcomes with anti-VEGF reinitiation.


Assuntos
Inibidores da Angiogênese/administração & dosagem , Endoftalmite/etiologia , Medição de Risco/métodos , Degeneração Macular Exsudativa/tratamento farmacológico , Idoso , Idoso de 80 Anos ou mais , Inibidores da Angiogênese/efeitos adversos , Endoftalmite/epidemiologia , Feminino , Humanos , Incidência , Injeções Intravítreas/efeitos adversos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Tomografia de Coerência Óptica/métodos , Estados Unidos/epidemiologia , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual , Degeneração Macular Exsudativa/diagnóstico
3.
Retina ; 38(4): 748-754, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28368975

RESUMO

PURPOSE: To study the use of ultra-widefield fluorescein angiography (UWF FA) in the detection and management of retinal capillary hemangioblastomas in patients with von Hippel-Lindau disease. METHODS: This is a retrospective study of patients with von Hippel-Lindau disease who underwent UWF FA using the Optos camera at a single center from June 2009 to May 2015. The clinical use of UWF FA was reviewed, and the number of hemangioblastomas identified on UWF FA was compared with ophthalmoscopy and a simulated seven standard field (7SF) FA montage. RESULTS: Twenty eyes of 10 patients were identified. Only 33% of lesions seen on UWF FA were also found on ophthalmoscopy, and 88% of lesions visualized on UWF FA were located outside the 7SF overlay. In 5 eyes that had gaze steering, 18% of lesions could be visualized only on gaze-steered images. For the 14 eyes with data available, 6 had procedures recommended and 8 eyes observed based on data from UWF FA. One of 20 eyes had a lesion on ophthalmoscopy that was missed by imaging. CONCLUSION: Ultra-widefield FA using the Optos camera is helpful for the evaluation and management of patients with von Hippel-Lindau disease. The UWF FA with gaze steering appears to detect more hemangioblastomas than ophthalmoscopy and conventional angiography.


Assuntos
Técnicas de Diagnóstico Oftalmológico , Angiofluoresceinografia/métodos , Hemangioblastoma/diagnóstico por imagem , Neoplasias da Retina/diagnóstico por imagem , Doença de von Hippel-Lindau/complicações , Adolescente , Adulto , Criança , Diagnóstico Precoce , Feminino , Hemangioblastoma/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias da Retina/etiologia , Estudos Retrospectivos , Adulto Jovem
4.
Retin Cases Brief Rep ; 12 Suppl 1: S55-S58, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29155698

RESUMO

PURPOSE: To report a case of bull's eye maculopathy associated with mutations in RDS/PRPH2 and ROM-1 genes. METHODS: We present a case report of a patient with a characteristic maculopathy and describe the multimodal retinal imaging findings including spectral domain optical coherence tomography and fundus autofluorescence and full-field electrophysiology. The results of genetic testing are also reported. RESULTS: A 60-year-old woman presented with decreased vision and a remarkable bull's eye maculopathy with retinal examination. Fundus autofluorescence illustrated a striking pattern of speckled hyperautofluorescence and hypoautofluorescence that highlighted the bull's eye maculopathy in each eye and guided genetic testing, which confirmed a mutation of the RDS/PRPH2 gene and a novel mutation of the ROM-1 gene. CONCLUSION: Multimodal imaging including fundus autofluorescence may guide genetic testing in patients with a characteristic maculopathy. RDS/PRPH2 genetic mutation can be associated with a bull's eye maculopathy with a signature fundus autofluorescence presentation.


Assuntos
Degeneração Macular , Periferinas/genética , Tetraspaninas/genética , Eletrorretinografia , Proteínas do Olho , Feminino , Angiofluoresceinografia , Humanos , Degeneração Macular/diagnóstico por imagem , Degeneração Macular/genética , Pessoa de Meia-Idade , Mutação , Tomografia de Coerência Óptica/métodos
5.
Retin Cases Brief Rep ; 11 Suppl 1: S41-S43, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27548038

RESUMO

PURPOSE: To report a case of maternally inherited diabetes and deafness complicated by branch retinal vein occlusion and cystoid macular edema. METHODS: Retrospective case report. Multimodal imaging including spectral domain optical coherence tomography, en face optical coherence tomography, and fundus autofluorescence was preformed, and the findings are presented. FINDINGS: A 58-year-old female with a history of diabetes mellitus, hearing loss, and a previous diagnosis of age-related macular degeneration presented with decreased vision in the right eye. Clinical examination and multimodal imaging demonstrated a right inferior branch retinal vein occlusion complicated by cystoid macular edema and bilateral maculopathy suspicious for maternally inherited diabetes and deafness. Genetic testing confirmed an A3243G mitochondrial mutation. CONCLUSION: Multimodal retinal imaging is a key to guide diagnosis of rare genetic diseases such as maternally inherited diabetes and deafness. We report the unusual presentation of maternally inherited diabetes and deafness complicated by branch retinal vein occlusion and cystoid macular edema.


Assuntos
Surdez/congênito , Diabetes Mellitus Tipo 2/complicações , Retinopatia Diabética/etiologia , Oclusão da Veia Retiniana/etiologia , Diabetes Mellitus Tipo 2/congênito , Feminino , Humanos , Degeneração Macular/etiologia , Edema Macular/etiologia , Pessoa de Meia-Idade , Estudos Retrospectivos
6.
Retin Cases Brief Rep ; 9(4): 357-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26421894

RESUMO

BACKGROUND/PURPOSE: To report a case of congenital retinal macrovessel associated with cystoid macular edema and an ipsilateral intracranial venous malformation. METHODS: Case report. RESULTS: A 58-year-old woman with decreased vision was found to have a congenital retinal venous macrovessel associated with cystoid macular edema because of tributary venous occlusion. The patient underwent neuroimaging and an ipsilateral venous malformation of the frontal lobe was discovered. CONCLUSION: Congenital retinal macrovessel can occasionally be complicated by vascular occlusion and macular edema. The authors report a case of congenital retinal macrovessel associated with an intracranial venous malformation. Clinicians should be aware of this potential association, and further studies are warranted.


Assuntos
Malformações Arteriovenosas Intracranianas/complicações , Edema Macular/etiologia , Oclusão da Veia Retiniana/etiologia , Vasos Retinianos/anormalidades , Feminino , Humanos , Pessoa de Meia-Idade
7.
Retin Cases Brief Rep ; 9(4): 360-2, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26505863

RESUMO

PURPOSE: To report a case of sickle cell retinopathy imaged with optical coherence tomography angiography. METHODS: Case report. RESULTS: An asymptomatic 33-year-old man with known sickle cell anemia (SS) presented for routine eye examination. Ultrawide-field fluorescein angiography confirmed areas of temporal nonperfusion without neovascularization and subtle enlargement of the foveal avascular zone in the left eye. Spectral domain optical coherence tomography showed thinning of the inner layers of the temporal macula in both eyes. Optovue split-spectrum amplitude decorrelation angiography optical coherence tomography was performed and showed reduced flow within the superficial and deep macular plexuses of each eye, most severely within the deep retinal capillary plexus. This abnormality was more extensive than could it be appreciated with conventional angiography. CONCLUSION: This report provides evidence that optical coherence tomography angiography may be more sensitive in detecting macular capillary nonperfusion than fluorescein angiography. It also provides further evidence that the ischemic vasculopathy of sickle cell retinopathy preferentially affects the deep capillary plexus.


Assuntos
Anemia Falciforme/complicações , Angiofluoresceinografia , Macula Lutea/patologia , Doenças Retinianas/diagnóstico , Tomografia de Coerência Óptica/métodos , Adulto , Humanos , Masculino
8.
Retin Cases Brief Rep ; 9(4): 339-46, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26421891

RESUMO

PURPOSE: To present the multimodal imaging findings of four patients with systemic amyloidosis, renal failure, and chorioretinopathy. METHODS: Retrospective analysis of four patients presenting to four institutions with evidence of amyloid induced chorioretinopathy. Fundus photography, autofluorescence, and spectral domain optical coherence tomography findings were studied and are presented. RESULTS: Four patients with biopsy-proven systemic amyloidosis demonstrated progressive chorioretinal degeneration with color fundus photography and autofluorescent imaging. With spectral domain optical coherence tomography analysis, amyloidosis-induced chorioretinopathy was characterized by a widened choriocapillaris band, choroidal infiltration, diffuse photoreceptor dysfunction, and thinning of the outer nuclear layer. CONCLUSION: Multimodal imaging including spectral domain optical coherence tomography analysis in eyes of patients with systemic amyloidosis shows deposition in the choroid. The deposition may cause a secondary toxic and or barrier effect resulting in diffuse retinal pigment epithelium and photoreceptor dysfunction.


Assuntos
Amiloidose/complicações , Doenças da Coroide/etiologia , Doenças Retinianas/etiologia , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Imagem Multimodal , Estudos Retrospectivos
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