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1.
BMC Med Genet ; 21(1): 42, 2020 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-32106822

RESUMO

BACKGROUND: von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous mutations are expected to be phenotypically silent and their role in VHL disease remains poorly understood. CASE PRESENTATION: We report a Caucasian male with a family history of pheochromocytoma and the synonymous VHL mutation c.414A > G (p.Pro138Pro). At 47-years, MRI revealed pheochromocytoma in the left adrenal gland and hemangioblastomas in the spine and brain. Pheochromocytoma was treated by adrenalectomy. Radiotherapy, followed by craniotomy and resection were needed to reduce hemangioblastomas to residual lesions. Two of three of the proband's children inherited the mutation and both presented with retinal hemangioblastomas without pheochromocytoma at age 7: one twin needed four laser treatments. Primary skin fibroblasts carrying the heterozygous mutation or wild type VHL were established from the family. Mutant fibroblasts downregulated full-length VHL mRNA and protein, and upregulated the short VHL mRNA isoform (a result of exon 2 skipping in splicing) at the mRNA level but not at the protein level. CONCLUSIONS: Our study shows that the synonymous VHL mutation c.414A > G can within 7 years induce pediatric retinal hemangioblastoma in absence of pheochromocytoma. This highlights the need to include splicing-altering synonymous mutations into the screening for VHL disease. This is also the first report on detecting and validating a synonymous VHL mutation using patient-derived fibroblasts. The mutation c.414A > G translates to p.Pro138Pro, yet it is not functionally silent, because it causes aberrant splicing by skipping exon 2. The reduced but not completely abolished pVHL protein in a loss-of-heterozygosity genetic backdrop may underlie the etiology of VHL disease.


Assuntos
Neoplasias Cerebelares/genética , Hemangioblastoma/genética , Processamento de RNA/genética , Mutação Silenciosa , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/diagnóstico , Criança , Pré-Escolar , Família , Feminino , Mutação da Fase de Leitura/genética , Mutação em Linhagem Germinativa , Hemangioblastoma/complicações , Hemangioblastoma/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/genética , Linhagem , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Prolina/genética , Neoplasias da Retina/complicações , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/genética , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/genética , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética
2.
Rom J Ophthalmol ; 63(3): 264-267, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31687629

RESUMO

Objective. To report a rare presentation of solitary retinal capillary hemangioma manifesting with combined retinal detachment as initial presentation and its successful management. Methods. A 35-year-old healthy Indian male presented with combined retinal detachment associated with solitary retinal capillary hemangioma as initial presentation; a clinical entity still not reported in literature. Patient was managed with pars plana vitrectomy combined with retinectomy, endolaser, & silicon oil tamponade with good visual & anatomical recovery. Results. Patient had good clinical outcome with final best-corrected visual acuity (BCVA) of 6/ 24 and well attached retina at last follow-up. Conclusion. Solitary retinal capillary hemangiomas can rarely present with advanced vitreo-retinal complications like combined retinal detachment as initial manifestation that can be effectively managed with skilled & appropriate surgical intervention.


Assuntos
Angiofluoresceinografia/métodos , Hemangioma Capilar/diagnóstico , Descolamento Retiniano/etiologia , Neoplasias da Retina/diagnóstico , Recurvamento da Esclera/métodos , Acuidade Visual , Vitrectomia/métodos , Adulto , Seguimentos , Fundo de Olho , Hemangioma Capilar/complicações , Hemangioma Capilar/cirurgia , Humanos , Masculino , Retina/patologia , Retina/cirurgia , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/cirurgia , Neoplasias da Retina/complicações , Neoplasias da Retina/cirurgia
4.
Indian J Ophthalmol ; 67(5): 701-703, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31007251

RESUMO

In this series, we discuss the role of optical coherence tomography angiography (OCTA) in assessing response to treatment in intraocular vascular tumors. This is a series of two cases: Multiple retinal capillary hemangioblastoma (RCH) treated with laser photocoagulation and diffuse choroidal hemangioma (DCH) with radiotherapy. In large RCH and DCH, optical coherence tomography (OCT) showed significant reduction of subretinal and intraretinal fluid. But post-treatment mean tumor vascular density (MTVD) was slightly reduced. In one small RCH, vascular loop was seen suggesting minimal residual disease. So, OCTA helps in identifying treatment inadequacy and understanding alternate mechanism involved in treatment response in vascular tumors.


Assuntos
Neoplasias da Coroide/diagnóstico , Corioide/patologia , Angiofluoresceinografia/métodos , Hemangioma/diagnóstico , Fotocoagulação a Laser/métodos , Retina/patologia , Neoplasias da Retina/diagnóstico , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Neoplasias da Coroide/complicações , Neoplasias da Coroide/cirurgia , Fundo de Olho , Hemangioblastoma/complicações , Hemangioblastoma/diagnóstico , Hemangioblastoma/cirurgia , Hemangioma/complicações , Humanos , Masculino , Neoplasias da Retina/complicações , Neoplasias da Retina/cirurgia
5.
J Pediatr Ophthalmol Strabismus ; 56: e24-e27, 2019 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-30907974

RESUMO

A 19-month-old boy with unilateral retinoblastoma with iris and retinal neovascularization at initial presentation displayed traction retinal detachment, retinal non-perfusion, and persistent retinal neovascularization after completion of intra-arterial chemotherapy. Two months following resolution of traction retinal detachment, restoration of retinal perfusion and regression of neovascularization occurred without additional intervention. Spontaneous regression of retinal neovascularization is possible following resolution of traction retinal detachment. [J Pediatr Ophthalmol Strabismus. 2019;56:e24-e27.].


Assuntos
Retina/diagnóstico por imagem , Descolamento Retiniano/etiologia , Neoplasias da Retina/complicações , Neovascularização Retiniana/etiologia , Retinoblastoma/complicações , Terapia Combinada , Enucleação Ocular , Angiofluoresceinografia , Fundo de Olho , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Remissão Espontânea , Descolamento Retiniano/diagnóstico , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/terapia , Neovascularização Retiniana/diagnóstico , Retinoblastoma/diagnóstico , Retinoblastoma/terapia , Ultrassonografia , Acuidade Visual
6.
Arch. Soc. Esp. Oftalmol ; 94(3): 125-129, mar. 2019. ilus, graf
Artigo em Espanhol | IBECS | ID: ibc-178313

RESUMO

Introducción: El cáncer pulmonar (CP) es el tumor con mayor frecuencia y mortalidad a nivel mundial. Casos de metástasis coroideas y retinopatía asociada a cáncer han sido publicados en CP, sin embargo no existen estudios en población mexicana que describan las posibles alteraciones retinocoroideas y su relación con el estadio de CP. Objetivo: Evaluar a pacientes con CP para determinar la presencia de alteraciones en el segmento posterior y su relación con el estadio del mismo. Materiales y métodos: Estudio transversal y descriptivo de 50 pacientes (100 ojos) con CP. Datos demográficos: edad, sexo, tipo histológico, tiempo de evolución, estadio, tratamiento y comorbilidades. Variables de medición: agudeza visual (LogMAR), biomicroscopía del segmento anterior, registro fotográfico de retina, fluorangiografía retiniana, tomografía de coherencia óptica y electrorretinograma. Cada paciente fue evaluado por dos oftalmólogos. Resultados: Un total de 26 hombres y 24 mujeres fueron evaluados, el promedio de edad fue de 65 años, el tiempo medio del diagnóstico de CP fue de 6 meses siendo el adenocarcinoma el principal tipo histológico (70%), al momento de la evaluación 50% presentaban estadio II y 30% estadio IV. Las alteraciones del segmento posterior encontradas fueron: metástasis coroideas (16%), metástasis retinianas (10%), retinopatía asociada a cáncer (6%) y oclusiones vasculares (4%). La mayoría de los pacientes con alteraciones retinocoroideas se encontraban en estadio IV. Conclusiones: En el CP pueden encontrarse oclusiones vasculares, retinopatía asociada a cáncer y metástasis a coroides y retina con una incidencia mayor a la publicada en la literatura, siendo más frecuentes en estadios avanzados de la enfermedad aunque pueden encontrarse desde el estadio II en pacientes asintomáticos


Introduction: Lung cancer (LC) is the most common tumour, and the leading cause of cancer-related death worldwide. Although cases of choroidal metastasis and cancer-associated retinopathy have been reported in LC, no studies have been conducted on the Mexican population to describe retinochoroidal findings during the course of LC, and the relationship with its stage. Objective: To evaluate patients with a diagnosis of LC, and to describe the posterior segment findings in relationship to the stage of LC. Materials and methods: A cross-sectional and descriptive study was conducted on 50 patients with LC (100 eyes). The demographic data included age, gender, histological type, evolution time, stage, treatment, and comorbidities. The measurement variables included visual acuity (LogMAR), anterior segment biomicroscopy, retinal photography, fluorescein retinal angiography, optical coherence tomography, and electroretinogram. All patients were evaluated by two ophthalmologists. Results: The study included a total of 26 men and 24 women, with a mean age of 65 years, and a mean time from LC diagnosis of 6 months. The principal histological type was adenocarcinoma (70%), and most (50%) were in stage II at the time of evaluation, with 15 (30%) patients having a metastasis (stage IV). The changes in the posterior segment included choroidal metastasis (16%), retinal metastasis (10%), cancer-associated retinopathy (6%), and vascular occlusions (4%). The majority of patients who presented with posterior segment alterations were in stage IV. Conclusions: Vascular occlusions, cancer-associated retinopathy, choroidal and retinal metastases may be found in LC, with an incidence higher than that reported in the literature, especially in advanced stages of LC, although they can be found from stage II in asymptomatic patients


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Masculino , Feminino , Neoplasias Pulmonares/complicações , Neoplasias da Coroide/etiologia , Metástase Neoplásica , Neoplasias da Retina/complicações , Fatores de Risco , Neoplasias Pulmonares/patologia , Estudos Transversais/métodos , Acuidade Visual , Microscopia , Tomografia de Coerência Óptica/métodos , México/epidemiologia , Adenocarcinoma/diagnóstico
8.
BMJ Case Rep ; 20182018 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-30361451

RESUMO

To report a case of retinoblastoma presenting as haemorrhagic choroidal detachment in a 10-year-old girl. The patient, apparently well, presented with sudden blurring of vision in the setting of blunt trauma. On examination and ocular ultrasound, haemorrhagic choroidal detachment was suspected. She underwent external drainage via sclerostomies. The haemorrhage resolved ultrasonographically, but the vision did not improve. Five months postoperatively, she presented with sudden eye pain, lid swelling and proptosis. The ancillary workups were consistent with panophthalmitis and was treated as such. Six months postoperatively, the pain and lid swelling persisted; hence, the painful near absolute eye was enucleated. The histopathology revealed small round blue cells with necrosis consistent with retinoblastoma. Immunohistochemistry was positive for synaptophysin and negative for S100 confirming retinoblastoma. Retinoblastoma is the most common intraocular malignancy in children. The importance of increased awareness of its various presentations is of utmost importance to prevent life-threatening and vision-impairing complications.


Assuntos
Doenças da Coroide/etiologia , Neoplasias da Retina/complicações , Retinoblastoma/complicações , Criança , Hemorragia da Coroide/etiologia , Enucleação Ocular , Traumatismos Oculares/etiologia , Feminino , Humanos , Neoplasias da Retina/cirurgia , Retinoblastoma/cirurgia , Transtornos da Visão/etiologia
9.
BMC Ophthalmol ; 18(1): 251, 2018 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-30223826

RESUMO

BACKGROUND: Congenital ocular melanocytosis has been shown to be extremely uncommon in studies of numerous infants and children with retinoblastoma and disorders such as retinopathy of prematurity. CASE PRESENTATION: A 33-month-old Caucasian boy presented with a solid white predominantly endophytic retinoblastoma filling most of the nasal aspect of the fundus and extensive vitreous seeding. Fundus exam of the contralateral eye showed a broad-based flat melanotic area of the choroid extending from the subfoveal region to the ora serrata temporally. The child was treated by enucleation of the retinoblastoma-containing eye (homozygous non-germline RB1 mutation) and is being monitored annually. The patient has been followed for 4 years. CONCLUSIONS: This rare presentation of advanced unilateral retinoblastoma and contralateral isolated choroidal melanocytosis in a young child emphasizes the importance of detailed fundus mapping of the non-affected eye and has potential implications due to the increased incidence of uveal melanoma later in life.


Assuntos
Doenças da Coroide/diagnóstico , Corioide/patologia , Melanose/diagnóstico , Neoplasias da Retina/diagnóstico , Retinoblastoma/diagnóstico , Pré-Escolar , Doenças da Coroide/complicações , Enucleação Ocular , Humanos , Masculino , Melanose/complicações , Neoplasias da Retina/complicações , Neoplasias da Retina/cirurgia , Retinoblastoma/complicações , Retinoblastoma/cirurgia
10.
J Med Case Rep ; 12(1): 248, 2018 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-30185211

RESUMO

BACKGROUND: Von Hippel-Lindau disease is a rare hereditary syndrome caused by germinal mutations in a von Hippel-Lindau tumor-suppressing gene. Retinal hemangioblastoma is the ocular hallmark lesion of von Hippel-Lindau disease. CASE PRESENTATION: A 20-year-old Caucasian woman presented to our institution with painless visual impairment in the right eye. A fundus ophthalmoscopic evaluation and swept-source optical coherence tomographic examination revealed a retinal hemangioblastoma associated with cystoid macular edema. On the basis of the clinical ocular findings and genetic analysis, von Hippel-Lindau disease was diagnosed. Following an intravitreal injection of ranibizumab, off-label administration of intravitreal dexamethasone was considered to reduce the edema. An almost complete resolution of the edema in the macular area was observed 1 week after the injection. Finally, laser photocoagulation and transconjunctival cryotherapy were performed; the patient developed "ablatio fugax" after cryotherapy. CONCLUSIONS: In our experience, intravitreal dexamethasone administration has proven to be a useful tool for reducing retinal hemangioblastoma-related macular edema in von Hippel-Lindau disease and may be considered a potentially valuable treatment that can be used in combination with other therapies.


Assuntos
Anti-Inflamatórios/administração & dosagem , Dexametasona/administração & dosagem , Hemangioblastoma/diagnóstico por imagem , Edema Macular/diagnóstico por imagem , Edema Macular/tratamento farmacológico , Neoplasias da Retina/diagnóstico por imagem , Tomografia de Coerência Óptica , Doença de von Hippel-Lindau/complicações , Antineoplásicos/administração & dosagem , Feminino , Angiofluoresceinografia , Hemangioblastoma/complicações , Hemangioblastoma/diagnóstico , Humanos , Injeções Intravítreas , Edema Macular/etiologia , Oftalmoscopia , Ranibizumab/administração & dosagem , Neoplasias da Retina/complicações , Neoplasias da Retina/diagnóstico , Adulto Jovem
11.
Indian J Ophthalmol ; 66(9): 1352-1354, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30127170

RESUMO

We present a rare case of retinal racemose angioma complicated with fleeting macroaneurysm (MA). A 50-year-old female presented with diminution of vision in her right eye for 6 years. Fundus examination showed a racemose angioma with hemorrhagic MA temporal to the fovea in the right eye. On subsequent follow-ups, spontaneous thrombosis of MA was noted with the development of new MA inferior to the fovea, with intraretinal hemorrhage extending into the fovea. Focal laser to MA resulted in resolution of MA with improvement in vision. We report optical coherence tomography angiographic features of the fleeting MA in a case of racemose angioma.


Assuntos
Aneurisma/diagnóstico , Angiofluoresceinografia/métodos , Hemangioma/diagnóstico , Artéria Retiniana/diagnóstico por imagem , Hemorragia Retiniana/diagnóstico , Neoplasias da Retina/diagnóstico , Tomografia de Coerência Óptica/métodos , Aneurisma/complicações , Aneurisma/cirurgia , Feminino , Fundo de Olho , Hemangioma/complicações , Hemangioma/cirurgia , Humanos , Fotocoagulação a Laser , Pessoa de Meia-Idade , Hemorragia Retiniana/etiologia , Hemorragia Retiniana/cirurgia , Neoplasias da Retina/complicações , Neoplasias da Retina/cirurgia
12.
J AAPOS ; 22(4): 276.e1-276.e7, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-30009948

RESUMO

PURPOSE: To report the long-term strabismus rate in salvaged retinoblastoma (Rb) patients and investigate possible risk factors leading to strabismus. METHODS: The medical records of patients with Rb presenting at a single institution over a 9-year period were reviewed retrospectively with regard to ocular alignment outcomes after long-term follow-up. RESULTS: A total of 64 eyes of 42 patients (22 bilateral cases [52%]) were included, presenting with International Intraocular Retinoblastoma Classification (IIRC) in the worse eye as follows: group A (n = 1), B (n = 16), C (n = 12), D (n = 11), no Rb (n = 2). Fifteen patients (36%) were initially referred because of family history of Rb. Mean age at presentation was 8.2 months (range, 0.3-58.3 months). Overall treatments included intravenous chemotherapy (62 eyes), intraophthalmic artery chemotherapy (10 eyes), brachytherapy (11 eyes), transpupillary thermotherapy (22 eyes), cryotherapy (47 eyes), and external beam radiotherapy (4 eyes). At final follow-up (mean, 93.7 months), 69% of patients had strabismus, with exotropia being the most common type (n = 18), followed by esotropia (n = 8), and alternate exotropia/esotropia (n = 3). On univariate analysis, the worse eye group IIRC and cTNMH, sporadic cases, strabismus, and foveal tumor at presentation were found to be significantly associated with strabismus at final follow-up (P ≤ 0.043). On multivariate analysis, only foveal involvement was found to be significant (P < 0.001). CONCLUSIONS: Strabismus, exotropia in particular, is a common adverse sequela following successful conservative treatment for Rb, with 69% of the present cohort having some type of deviation after long-term follow-up, for which foveal tumor at presentation was found to be a significant risk factor.


Assuntos
Neoplasias da Retina/complicações , Retinoblastoma/complicações , Estrabismo/etiologia , Antineoplásicos/uso terapêutico , Pré-Escolar , Crioterapia/métodos , Feminino , Seguimentos , Humanos , Hipertermia Induzida/métodos , Lactente , Masculino , Análise Multivariada , Radioterapia/métodos , Neoplasias da Retina/terapia , Retinoblastoma/terapia , Estudos Retrospectivos
14.
PLoS One ; 13(4): e0195395, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29698399

RESUMO

PURPOSE: To report on the rate and timing of retinal reattachment and outcomes for retinoblastoma children who have total retinal detachments at presentation to our center and were treated with intra-arterial chemotherapy (ophthalmic artery chemosurgery, OAC). PATIENTS AND METHODS: Single-center retrospective review of retinoblastoma patients who presented with total retinal detachments and were subsequently treated with OAC at MSKCC between May 2006 and July 2016. Endpoints were retinal detachment resolution, visual function, ERG amplitude, ocular survival, and patient survival from metastases. RESULTS: 87 eyes of 84 retinoblastoma patients were included. Using a survival multistate model, by 36 months of follow-up, there was a 54% cumulative probability of complete retinal reattachment and a 76% probability of partial reattachment. 24% of eyes that completely reattached received only OAC without any prior or adjuvant treatments. Eyes that completely reattached were significantly more likely to have been diagnosed at a younger age (p<0.0001) and to have greater initial ERG values (p = 0.006). At final follow-up, 14% of eyes had gained at least 25 µV of ERG activity, and 8.0% had achieved hand motion vision or better, including one to 20/60. 13% of eyes were enucleated. No patient died from metastatic disease, and only one developed metastases. CONCLUSION: OAC can successfully treat previously considered "non-salvageable" retinoblastoma eyes with total retinal detachments, promote retinal reattachment in the majority of eyes, and preserve ocular and patient survival.


Assuntos
Antineoplásicos/administração & dosagem , Antineoplásicos/efeitos adversos , Descolamento Retiniano/etiologia , Neoplasias da Retina/complicações , Neoplasias da Retina/tratamento farmacológico , Retinoblastoma/complicações , Retinoblastoma/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Carboplatina/administração & dosagem , Carboplatina/efeitos adversos , Pré-Escolar , Eletrorretinografia , Feminino , Seguimentos , Humanos , Lactente , Infusões Intra-Arteriais , Masculino , Melfalan/administração & dosagem , Melfalan/efeitos adversos , Artéria Oftálmica , Retina/efeitos dos fármacos , Retina/fisiopatologia , Descolamento Retiniano/fisiopatologia , Descolamento Retiniano/terapia , Estudos Retrospectivos , Análise de Sobrevida , Topotecan/administração & dosagem , Topotecan/efeitos adversos , Resultado do Tratamento
17.
Paediatr Anaesth ; 28(2): 120-126, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29205669

RESUMO

BACKGROUND AND OBJECTIVE: Serious adverse cardiorespiratory events complicate super selective ophthalmic artery chemotherapy for retinoblastoma in anesthetized children. Their mechanism remains unclear but may be attributed to an autonomic nervous reflex induced by the catheter close to the ophthalmic artery. Inadequate depth of anesthesia during catheter stimulation might be an aggravating factor. Thus, we tested whether deep general anesthesia reduced the incidence of serious cardiorespiratory events. METHODS: Children were prospectively included in this observational study. Standardized deep general anesthesia with sevoflurane, rocuronium, and sufentanil was administered. Sevoflurane MAC was kept between 1.5 and 1.7 and additional sufentanil administered. Serious cardiorespiratory event criteria were predefined and included arterial hypotension, bradycardia, and severe decrease in lung compliance. They were recorded and the factors influencing their occurrence were investigated. RESULTS: One hundred fifteen procedures were performed on 32 children. The median MAC of sevoflurane was 1.5 and median BIS value was 44. Serious cardiorespiratory events occurred in 20% of procedures and were mainly severe decrease in lung compliance (83% of events). All of them required active treatment. One procedure was aborted due to cardiorespiratory compromise and required an epinephrine infusion. All severe decreases in lung compliance occurred within 2 minutes after catheter insertion in the ophthalmic artery. No recorded demographic and endovascular characteristics were associated with serious cardiorespiratory events. CONCLUSION: Serious cardiorespiratory events occur commonly during super selective ophthalmic artery chemotherapy. Standardized deep anesthesia with analgesia did not appear to be protective. No predictive factors were identified, but these events systematically arose within 2 minutes after ophthalmic artery catheter insertion. Anesthetists and neuroradiologists should be prepared to manage these serious complications and parents should be informed of the risks.


Assuntos
Anestesia Geral/métodos , Complicações Intraoperatórias/fisiopatologia , Artéria Oftálmica , Neoplasias da Retina/tratamento farmacológico , Retinoblastoma/tratamento farmacológico , Bradicardia/fisiopatologia , Pré-Escolar , Feminino , Humanos , Hipotensão/fisiopatologia , Lactente , Complacência Pulmonar , Masculino , Estudos Prospectivos , Neoplasias da Retina/complicações , Retinoblastoma/complicações
18.
Int Ophthalmol ; 38(1): 353-361, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28039672

RESUMO

PURPOSE: To report two cases of primary vitreoretinal lymphoma (PVRL), which presented as intermediate and posterior uveitis. METHODS: Combined clinical assessment, multimodal imaging with spectral-domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, indocyanine green angiography, brain magnetic resonance imaging and vitreous and retinal biopsy. Case 1 was a 48-year-old woman who complained of visual loss in her right eye secondary to a diffuse vitreous opacification and multiple chorioretinal lesions. Case 2, a 74-year-old man, presented with low vision in his right eye due to a wide chorioretinal lesion at the posterior pole, vitreous opacification and posterior uveitis in both eyes. RESULTS: Diffuse large B cell lymphoma was histologically diagnosed in the cerebellum in the first case and in chorioretinal tissue in the second patient. Atypical lymphoid cells were detected and allowed to make a diagnosis of primary central nervous system lymphoma in case 1 and PVRL in case 2. CONCLUSION: PVRL often masquerades ad intermediate or posterior uveitis. The management of the patients needed a team of pathologists, haematologists and ophthalmologists to achieve the correct diagnosis and choose the more appropriate therapy. Some peculiar characteristics on multimodal imaging, even in atypical cases of PVRL, should raise suspicious for PVRL and lead to a diagnostic vitrectomy and/or retinal biopsy.


Assuntos
Angiofluoresceinografia/métodos , Linfoma Difuso de Grandes Células B/diagnóstico , Imagem Multimodal/métodos , Retina/patologia , Neoplasias da Retina/diagnóstico , Uveíte Posterior/etiologia , Corpo Vítreo/patologia , Idoso , Biópsia , Diagnóstico Diferencial , Feminino , Seguimentos , Fundo de Olho , Humanos , Linfoma Difuso de Grandes Células B/complicações , Linfoma Difuso de Grandes Células B/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias da Retina/complicações , Neoplasias da Retina/cirurgia , Tomografia de Coerência Óptica , Uveíte Posterior/diagnóstico , Uveíte Posterior/cirurgia , Acuidade Visual , Vitrectomia
19.
Retin Cases Brief Rep ; 12(1): 12-16, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-27533642

RESUMO

PURPOSE: To report subclinical retinal hemangioblastoma detected by enhanced depth imaging optical coherence tomography and fluorescein angiography in at-risk twins. METHODS: Case report. RESULTS: A set of twins, age 7 years, (Twin A and Twin B) with known family history of von Hippel-Lindau disease (gene test positive) and no systemic manifestations were evaluated. Visual acuity was 20/20 in both eyes of both twins. Anterior segment examination and intraocular pressures were unremarkable in both eyes. Twin A showed no clinically visible tumor in the right eye, and a clinically evident 4-mm hemangioblastoma in the superior retina of the left eye. The enhanced depth imaging optical coherence tomography demonstrated normal fovea in both eyes. However, imaging at the inferonasal juxtapapillary region in the right eye documented an intraretinal mass from nerve fiber layer to outer plexiform layer on enhanced depth imaging optical coherence tomography and with hyperfluorescence on fluorescein angiography, consistent with retinal hemangioblastoma. Twin B demonstrated no clinically visible tumors in both eyes, but the left eye showed a small hyperreflective lesion in the parafoveal region on spectral domain optical coherence tomography from inner to outer nuclear layers, with no cystoid changes or subretinal fluid. The lesion was slightly hyperfluorescent on fluorescein angiography, consistent with hemangioblastoma. The optical coherence tomography angiography showed no vascularity within the lesion. Twin A was treated with laser photocoagulation to the larger hemangioblastoma in the left eye, and the asymptomatic juxtapapillary tumor was observed. Twin B was managed with cautious observation as treatment to the left eye could lead to vision loss. CONCLUSION: Patients at risk for retinal hemangioblastoma should have routine imaging with fundus photography, fluorescein angiography, and enhanced depth imaging optical coherence tomography for subclinical detection of asymptomatic tumors.


Assuntos
Angiofluoresceinografia/métodos , Hemangioblastoma/diagnóstico , Retina/patologia , Neoplasias da Retina/diagnóstico , Tomografia de Coerência Óptica/métodos , Criança , Diagnóstico Diferencial , Doenças em Gêmeos , Feminino , Fundo de Olho , Testes Genéticos , Hemangioblastoma/complicações , Humanos , Neoplasias da Retina/complicações , Acuidade Visual , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética
20.
J Fr Ophtalmol ; 40(8): 676-680, 2017 Oct.
Artigo em Francês | MEDLINE | ID: mdl-28893456

RESUMO

PURPOSE: The purpose was to record the causes of leukocoria among children under 10years of age and to determine the proportion of rare causes of leukocoria. PATIENTS AND METHODS: This retrospective study was conducted over a period of ten years, from January 1, 2004 to December 31, 2013, in patients under 10years of age who were referred for leukocoria. RESULTS: Leukocoria represented one of the ten reasons for consultation among children under 10years of age. The mean age of our patients was 42.5months. In 76 % of cases, the leukocoria patients were children under 6years of age. Male patients were affected more commonly, with a sex-ratio of 1.5. Patients coming from Dakar and its suburbs represented two thirds of the total. Bilateral involvement represented 53.7 % of the total. Cataracts were responsible for 74.3 % of cases, retinoblastoma 20.58 %, retinal detachment 0.96 %, retinopathy of prematurity 0.96 %, pupillary membrane persistence 0.96 %, persistent hyperplastic primary vitreous 0.64 %, endophthalmitis 0.64 %, optic nerve coloboma 0.32 %, iris heterochromia 0.32 % and ametropia 0.32 %. DISCUSSION: The total percentage of rare causes was 5.12 % in our study, including one case of hyperopia. These etiologies, although rare, do exist. CONCLUSION: Rare causes of leukocoria require special attention. The discovery of leukocoria necessitates rigorous etiological work-up. Ametropia must be a diagnosis of exclusion.


Assuntos
Distúrbios Pupilares/diagnóstico , Distúrbios Pupilares/epidemiologia , Distúrbios Pupilares/etiologia , Catarata/complicações , Catarata/diagnóstico , Catarata/epidemiologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Incidência , Lactente , Doenças da Íris/diagnóstico , Doenças da Íris/epidemiologia , Masculino , Vítreo Primário Hiperplásico Persistente/complicações , Vítreo Primário Hiperplásico Persistente/diagnóstico , Vítreo Primário Hiperplásico Persistente/epidemiologia , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/epidemiologia , Neoplasias da Retina/complicações , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/epidemiologia , Retinoblastoma/complicações , Retinoblastoma/diagnóstico , Retinoblastoma/epidemiologia , Estudos Retrospectivos
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