RESUMO
PURPOSE: To investigate the functional and structural outcomes after treatment with prednisolone eye drops in the following pachychoroid-related diseases: chronic central serous chorioretinopathy, pachychoroid pigment epitheliopathy, and peripapillary pachychoroid syndrome. METHODS: In this retrospective study, 54 eyes of 48 patients with pachychoroid-related disease were treated with prednisolone acetate 1% eye drops 3 times a day. Change in macular volume and retinal central subfield thickness on optical coherence tomography was measured. In addition, the foveal or complete resolution of fluid and the change in visual acuity were studied. RESULTS: The follow-up visit was at a mean of 41.2 ± 14.5 days. In the 44 eyes with chronic central serous chorioretinopathy, a significant reduction in retinal central subfield thickness ( P < 0.001) and macular volume ( P < 0.001) was observed. Foveal intra- or subretinal fluid resolved completely in 22% of the eyes. In the 8 peripapillary pachychoroid syndrome eyes, a reduction in the nasal retinal thickness was observed ( P = 0.025). One of the 2 pachychoroid pigment epitheliopathy eyes showed structural improvement. No significant change in visual acuity was observed in any of the pachychoroid spectrum diseases. CONCLUSION: In patients with chronic central serous chorioretinopathy, peripapillary pachychoroid syndrome, and pachychoroid pigment epitheliopathy, anatomical improvement was observed after therapy with prednisolone eye drops. Visual acuity did not change significantly.
Assuntos
Coriorretinopatia Serosa Central , Glucocorticoides , Soluções Oftálmicas , Prednisolona , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Estudos Retrospectivos , Masculino , Feminino , Prednisolona/análogos & derivados , Prednisolona/uso terapêutico , Prednisolona/administração & dosagem , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodos , Coriorretinopatia Serosa Central/tratamento farmacológico , Coriorretinopatia Serosa Central/diagnóstico , Coriorretinopatia Serosa Central/fisiopatologia , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Idoso , Adulto , Angiofluoresceinografia/métodos , Seguimentos , Doenças da Coroide/tratamento farmacológico , Doenças da Coroide/diagnósticoRESUMO
PURPOSE: To report long-term treatment outcomes of intravitreal bevacizumab in myopic macular neovascularization (MNV). METHODS: Retrospective analysis of longitudinal, clinical data of patients with high myopic MNV treated with intravitreal bevacizumab. One-hundred and seventeen eyes of 106 patients were followed from first injection up to 12 years. Outcome measures were best-corrected visual acuity change during follow-up and myopic MNV recurrence. RESULTS: Mean (±SD) baseline best-corrected visual acuity (0.56 ± 0.46 logMAR, 20/80) significantly improved after first treatment (0.33 ± 0.33, 20/50, P < 0.001). At 4 years (n = 86), best-corrected visual acuity was no longer significantly better than at baseline (0.55 ± 0.57, P = 0.30) and continued to deteriorate to 0.84 ± 0.76 (20/125) at 10 years (n = 27). Of the 27 eyes (23%) who reached 10 years of follow-up, 53% developed MNV-related chorioretinal atrophy. The cumulative incidence of recurrent myopic MNV was 34% at 2 years and 59% at 5 years. Best-corrected visual acuity decrease in eyes with or without recurrent MNV was similar ( P = 0.58). Patchy chorioretinal atrophy (hazard ratio 3.0, P = 0.02) and subfoveal MNVs (hazard ratio 2.5, P = 0.048) were significantly associated with recurrent MNV. CONCLUSION: This retrospective myopic MNV study revealed that visual improvement after intravitreal bevacizumab injections was not maintained over time. Macular neovascularization recurrences occurred frequently but did not alter the already poor visual prognosis.
Assuntos
Neovascularização de Coroide , Miopia Degenerativa , Humanos , Bevacizumab/uso terapêutico , Inibidores da Angiogênese , Estudos Retrospectivos , Brancos , Anticorpos Monoclonais Humanizados/uso terapêutico , Fator A de Crescimento do Endotélio Vascular , Miopia Degenerativa/complicações , Neovascularização de Coroide/tratamento farmacológico , Seguimentos , Acuidade Visual , Injeções Intravítreas , Resultado do Tratamento , Atrofia/tratamento farmacológicoRESUMO
PURPOSE: A retrospective study was performed with data from the prospective randomized controlled trials, PLACE and SPECTRA, assessing the risk of foveal atrophy and the likelihood of structural and functional improvement on optical coherence tomography, after foveal half-dose photodynamic therapy in chronic central serous chorioretinopathy. METHODS: A total of 57 chronic central serous chorioretinopathy patients received a single half-dose photodynamic therapy with a treatment spot that included the fovea. Optical coherence tomography scans and fundus autofluorescence images were analyzed for structural improvement and possible atrophy development, at baseline and at several visits after treatment. Main outcome measures were integrity of the external limiting membrane and ellipsoid zone on optical coherence tomography and hypoautofluorescence on fundus autofluorescence. RESULTS: The subfoveal external limiting membrane was graded as continuous in 21 of 57 of patients (36.8%) at baseline, and the subfoveal ellipsoid zone was graded as continuous in 5 of 57 patients (8.8%) at first visit, which improved to 50 of 51 (98.0%) and 32 out of 51 (62.7%) at the final visit at 2 years, respectively (both P < 0.001). Hypoautofluorescent changes on fundus autofluorescence were present in 25 of 55 patients (45.5%) at baseline and in 23 of 51 patients (45.1%) at the final visit ( P = 0.480). CONCLUSION: In patients with chronic central serous chorioretinopathy who received a single, foveal, half-dose photodynamic therapy, a significant improvement in structure and function was seen at the final follow-up. None of the patients developed foveal atrophy.
Assuntos
Coriorretinopatia Serosa Central , Fotoquimioterapia , Porfirinas , Humanos , Coriorretinopatia Serosa Central/tratamento farmacológico , Fármacos Fotossensibilizantes/uso terapêutico , Verteporfina/uso terapêutico , Estudos Retrospectivos , Estudos Prospectivos , Porfirinas/uso terapêutico , Angiofluoresceinografia , Fotoquimioterapia/métodos , Doença Crônica , Tomografia de Coerência Óptica , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
PURPOSE: To understand and compare perspectives of patients and professionals on current ophthalmologic care for high myopia, and to identify challenges and future opportunities. METHODS: Self-reported data were collected through two online questionnaires. Patient perspective was obtained from highly myopic members of a patient organisation based in the Netherlands using a 17-item questionnaire consisting of open and multiple-choice questions regarding personal experience with myopia care. The ophthalmologist perspective was obtained from practising Dutch ophthalmologists with a 12-item questionnaire of multiple-choice questions on work-related demographics, myopia care in daily practice and need for improvement. The response rate for patients was 27% (n = 136/500) and for ophthalmologists, 24% (n = 169/716). RESULTS: Patients were highly concerned about personal progressive loss of vision (69%) and feared their psychological well-being (82%) in case this would happen. The quality of performance of care provided by ophthalmologists was rated as excellent or satisfactory by 64% of the patients. These ratings for multidisciplinary care and insurance reimbursement were as low as 28% and 18% respectively. The mean concern among ophthalmologists about the rise in high myopia was 6.9 (SEM 0.1) on a 10-point scale. Sixty-nine per cent of the ophthalmologists reported that asymptomatic myopic patients should not be examined regularly at outpatient clinics. Ophthalmologists urged the development of clinical guidelines (74%), but did report (95%) that they informed patients about risk factors and complications. This contrasted with the view of patients, of whom 42% were discontent with information provided by ophthalmologists. CONCLUSIONS: These questionnaires demonstrated that the current clinical care delivered to highly myopic patients is in need of improvement. The expected higher demand for myopia care in the near future requires preferred practice patterns, professionals specifically trained to manage myopic pathology, accurate and comprehensive information exchange and collaboration of in- and out-of-hospital professionals across the full eye care chain.
Assuntos
Miopia , Humanos , Miopia/diagnóstico , Miopia/terapia , Inquéritos e Questionários , Fatores de Risco , Previsões , EtnicidadeRESUMO
Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Recently, variants in the arylsulfatase G (ARSG) gene have been reported to underlie USH type IV. This distinct type of USH is characterized by late-onset RP with predominantly pericentral and macular changes, and late onset SNHL without vestibular dysfunction. In this study, we describe the USH type IV phenotype in three unrelated subjects. We identified three novel pathogenic variants, two novel likely pathogenic variants, and one previously described pathogenic variant in ARSG. Functional experiments indicated a loss of sulfatase activity of the mutant proteins. Our findings confirm that ARSG variants cause the newly defined USH type IV and support the proposed extension of the phenotypic USH classification.
Assuntos
Retinose Pigmentar , Síndromes de Usher , Arilsulfatases , Humanos , Proteínas Mutantes , Retinose Pigmentar/genética , Sulfatases , Síndromes de Usher/genética , Síndromes de Usher/metabolismoRESUMO
PURPOSE: To report a series of 21 patients with perifoveal exudative vascular anomalous complex (PEVAC) and to investigate the anatomical changes over time. METHODS: We conducted a retrospective study. Clinical data of consecutive patients, presenting at the Rotterdam Eye Hospital between 2014 and 2019, were analyzed. The data collected included best-corrected visual acuity, fundus photography, optical coherence tomography (OCT), OCT-angiography, fluorescence angiography, and indocyanine green angiography. RESULTS: We included 21 patients with a PEVAC lesion with a mean follow-up of 24.3 ± 13.8 months (range, 9-46 months). Patients with PEVAC were on average 75.3 ± 11.1 years (range, 53-90 years). The large perifoveal vascular aneurysmal abnormality was associated with small retinal hemorrhages in six patients and hard exudates in three patients. The PEVAC lesion was associated with intraretinal cystic spaces on OCT in 15 patients. Twelve of 21 patients showed no changes in cystic spaces on OCT during follow-up: 9 patients had stable cystic spaces and 3 patients had no cystic spaces. In contrast, in 9 of 21 patients, we observed changes in cystic spaces on OCT during follow-up. In two patients, cystic spaces appeared during follow-up, and in seven patients, there was a spontaneous resolution of cystic spaces. In three of these seven patients, the PEVAC lesion completely disappeared. Two patients, with stable intraretinal cystic spaces on OCT, were treated with intravitreal injections of anti-vascular endothelial growth factor without improvement. CONCLUSION: Perifoveal exudative vascular anomalous complex is an idiopathic perifoveal retinal vascular abnormality that is associated with intraretinal cystic spaces. These intraretinal cystic spaces associated with a PEVAC lesion, and even the PEVAC lesion itself, can have a spontaneous resolution over time.
Assuntos
Angiofluoresceinografia/métodos , Fóvea Central/patologia , Imagem Multimodal , Doenças Retinianas/diagnóstico , Vasos Retinianos/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Idoso , Idoso de 80 Anos ou mais , Exsudatos e Transudatos/diagnóstico por imagem , Feminino , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
PURPOSE: To increase insight into the myopic presentation of central serous chorioretinopathy (CSC) by comparing a large group of myopic patients with CSC with reference groups with only one of the diagnoses. METHODS: Myopic patients with CSC (spherical equivalent ≤-3D, n = 46), emmetropic patients with CSC (spherical equivalent -0.5 to 0.5 D, n = 83), and myopic, non-CSC patients (n = 50) were included in this multicenter cross-sectional study. Disease characteristics and imaging parameters, such as subfoveal choroidal thickness and indocyanine green angiography patterns, were compared between cases and reference groups. RESULTS: In myopic patients with CSC, median subfoveal choroidal thickness (286 µm [IQR 226-372 µm]) was significantly thicker than subfoveal choroidal thickness in myopic, non-CSC patients (200 µm [IQR 152-228 µm], P < 0.001) but thinner than emmetropic patients with CSC (452 µm [IQR 342-538 µm], P < 0.001). They also had pachyvessels in 70% of the eyes comparable with emmetropic CSC (76%, P = 0.70). Choroidal hyperpermeability was frequently present on indocyanine green angiography in both myopic and emmetropic CSC eyes. Need for treatment, treatment success, and recurrence rate were not significantly different between CSC groups. CONCLUSION: Myopic CSC presents with similar imaging and clinical characteristics as emmetropic CSC, apart from their thinner choroids. Keeping in mind the structural changes of myopia, other imaging characteristics could aid the diagnostic process.
Assuntos
Coriorretinopatia Serosa Central/diagnóstico , Corioide/patologia , Miopia/diagnóstico , Adulto , Corantes/administração & dosagem , Estudos Transversais , Emetropia , Feminino , Angiofluoresceinografia , Humanos , Verde de Indocianina/administração & dosagem , Masculino , Pessoa de Meia-Idade , Acuidade VisualRESUMO
Central serous chorioretinopathy (CSCR) is characterised by retinal serous detachment usually localised in the macular region. CSCR predominantly affects men between 30 and 50 years of age. Traditional classification differentiates between acute (duration shorter than 4 to 6 months) and chronic disease (duration longer than 4 to 6 months). The pathogenesis is multifactorial and current thinking assumes the presence of localised choroidal hyperpermeability with subsequent secondary changes in the retinal pigment epithelium (RPE). The symptoms of acute CSCR include central blurred vision, often with deterioration in visual acuity. Optical coherence tomography (OCT) reveals subretinal fluid (SRF) and/or single retinal pigment epithelial detachments. Fluorescein angiography (FA) usually shows a leaking point with absent or only minor RPE changes in the acute phase and indocyanine green angiography (ICG) highlights circumscribed areas of thickened and hyperpermeable choroid. Acute cases may show spontaneous resolution of SRF, but may also recur and/or become chronic. After the initial diagnosis, spontaneous remission is seen in about 70 to 80% of cases, with a recurrence rate of about 50%. Due to the favourable spontaneous course, it is recommended to wait for 4 to 6 months after the first symptoms manifest. Steroid therapy is considered as a major risk factor. Chronic cases are characterised by slow deterioration in visual acuity with reduced contrast and colour perception. There are extensive RPE changes, with secondary degenerative changes of the photoreceptors. The disease can by complicated by choroidal neovascularisation (CNV), especially in elderly patients. The literature lists a number of treatments: The leakage point (visible in the FA) can be treated by focal laser therapy, either micropulse laser or, if sufficiently distant from the fovea, by argon laser coagulation. Randomised trials in chronic CSCR demonstrated good outcomes with photodynamic therapy. With observation periods ranging from 3 to 6 months, several case series reports found improvement after systemic administration of mineralocorticoid receptor antagonists, carbonic anhydrase inhibitors or non-steroidal anti-inflammatory drugs. In the presence of secondary CNV, anti-VEGF treatment should be initiated. It is unclear whether the combination with PDT might be useful.
Assuntos
Coriorretinopatia Serosa Central , Idoso , Coriorretinopatia Serosa Central/diagnóstico , Coriorretinopatia Serosa Central/terapia , Corioide , Angiofluoresceinografia , Humanos , Masculino , Estudos Retrospectivos , Líquido Sub-Retiniano , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To assess clinical characteristics and visual outcome in chronic central serous chorioretinopathy patients with posterior cystoid retinal degeneration (PCRD). METHODS: Patients' medical records were reviewed retrospectively in 62 cases (83 eyes, mean age = 59 years, 88% male). Data were collected at central serous chorioretinopathy diagnosis, at PCRD manifestation, and at final visit. All treatment modalities were reviewed. Main outcome measures were treatment efficacy in achieving PCRD resolution, and final best-corrected visual acuity. RESULTS: In 63 eyes (76%), subretinal fluid was present at first PCRD manifestation, whereas fluorescein angiography showed active focal or diffuse leakage in 65 eyes (78%). Seventy-six eyes (81%) received treatment, and PCRD had resolved completely in 31 eyes (37%) at the final visit. Photodynamic therapy was most successful in achieving a complete PCRD resolution. Best-corrected visual acuity did not improve, even after complete PCRD resolution (mean baseline best corrected visual acuity = 69 ± 19, and mean final best corrected visual acuity = 67 ± 20 ETDRS letters [20/40 and 20/50 in Snellen equivalent respectively], P = 0.354). CONCLUSION: Posterior cystoid retinal degeneration is a relatively common finding in chronic central serous chorioretinopathy, which is often accompanied by active subretinal fluid leakage. Treatment may be beneficial to stop the subretinal fluid leakage component, but is less likely to result in a complete PCRD resolution and/or a best-corrected visual acuity improvement.
Assuntos
Coriorretinopatia Serosa Central/fisiopatologia , Edema Macular/fisiopatologia , Adulto , Idoso , Coriorretinopatia Serosa Central/diagnóstico , Coriorretinopatia Serosa Central/tratamento farmacológico , Doença Crônica , Corantes/administração & dosagem , Feminino , Angiofluoresceinografia , Humanos , Verde de Indocianina/administração & dosagem , Edema Macular/diagnóstico , Edema Macular/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Fotoquimioterapia , Estudos Retrospectivos , Líquido Sub-Retiniano , Tomografia de Coerência Óptica , Acuidade Visual/fisiologiaRESUMO
PURPOSE: To study genetic predispositions and differences between severe chronic central serous chorioretinopathy (cCSC), nonsevere cCSC, and acute central serous chorioretinopathy (aCSC). METHODS: One hundred seventy-three severe cCSC patients, 272 nonsevere cCSC patients, 135 aCSC patients, and 1,385 control individuals were included. Eight single-nucleotide polymorphisms were genotyped in the ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Additionally, C4B gene copy numbers were analyzed. RESULTS: A significant association in 5 single-nucleotide polymorphisms in the CFH gene could be reproduced among severe cCSC patients, including rs800292 (P = 0.0014; odds ratio [OR] = 1.93; 95% confidence interval [CI] = 1.51-2.47), rs1065489 (P = 2.22 × 10; OR = 0.49; 95% CI = 0.34-0.72), rs1329428 (P = 0.001; OR = 1.89; 95% CI = 1.49-2.40), rs2284664 (P = 1.21× 10; OR = 1.65; 95% CI = 1.28-2.13), and rs3753394 (P = 6.10× 10; OR = 0.61; 95% CI = 0.46-0.81). Carrying three C4B copies was protective for severe cCSC (P = 0.001; OR = 0.29; 95% CI = 0.14-0.61). No significant differences in allele frequencies could be found among the CSC phenotypes. CONCLUSION: Acute CSC, nonsevere cCSC, and severe cCSC all showed a similar association with the CFH and C4B genes, and the three phenotypes could not be distinguished based on the genetics. This shows that despite the differences in clinical presentation and severity, there is an overlap in the genetic predisposition of different CSC phenotypes. Nongenetic factors may play a more important role in determining the clinical course of CSC.
Assuntos
Coriorretinopatia Serosa Central/genética , Predisposição Genética para Doença/genética , Proteínas/genética , Receptores de Mineralocorticoides/genética , Doença Aguda , Adulto , Idoso , Estudos de Casos e Controles , Coriorretinopatia Serosa Central/diagnóstico , Complemento C4b/genética , Fator H do Complemento/genética , Feminino , Dosagem de Genes , Frequência do Gene , Técnicas de Genotipagem , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To describe the clinical and multimodal imaging findings of a series of cases of serous macular detachment (SMD) caused by Best disease (BD) masquerading as neovascular age-related macular degeneration or central serous chorioretinopathy that were inappropriately treated with intravitreal anti-vascular endothelial growth factor or laser therapy. This study will also present data to support age-related progressive choroidal thickening in BD patients, which may play a role in the development of SMD in this population. METHODS: Clinical examination and multimodal imaging findings, including color fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, and optical coherence tomography-angiography, were reviewed and analyzed. Subfoveal choroidal thickness was also formally measured, and an age-related choroidal thickness analysis was performed and compared with a normal population. RESULTS: Twenty-six eyes of 13 patients (5 women) were included. Median age was 44 years. Nine patients presented with a history of SMD and subretinal fluid recalcitrant to various therapies, including intravitreal anti-vascular endothelial growth factor injections and photodynamic therapy. Best disease was subsequently diagnosed genetically in six patients and by detailed family history in seven. Mean logarithm of the minimum angle of resolution best-corrected visual acuity for all 26 eyes at last follow-up was +0.36 (Snellen equivalent of 20/46). Subfoveal choroidal thickness positively correlated with age for our cohort, increasing linearly at a rate of 25.6 µm per decade (R = 0.64; P < 0.001). Choroidal neovascularization was identified in four eyes on optical coherence tomography angiography, but these eyes did not respond to anti-vascular endothelial growth factor treatment. CONCLUSION: The diagnosis of BD should be considered in patients presenting with SMD and recalcitrant subretinal fluid masquerading as neovascular age-related macular degeneration or chronic central serous chorioretinopathy to avoid unnecessary treatment procedures. The positive correlation of subfoveal choroidal thickness with age in BD patients may be a factor in the pathogenesis and development of SMD in this population. Recognizing the multimodal imaging features of SMD associated with BD, described in detail in this study, will guide practitioners to the accurate diagnosis of BD and reduce the risk of unnecessary intraocular procedures with potential complications.
Assuntos
Erros de Diagnóstico , Descolamento Retiniano/etiologia , Distrofia Macular Viteliforme/complicações , Distrofia Macular Viteliforme/diagnóstico por imagem , Adolescente , Adulto , Idoso , Inibidores da Angiogênese/uso terapêutico , Coriorretinopatia Serosa Central/diagnóstico por imagem , Coriorretinopatia Serosa Central/tratamento farmacológico , Corioide/patologia , Neovascularização de Coroide/diagnóstico por imagem , Neovascularização de Coroide/tratamento farmacológico , Corantes/administração & dosagem , Diagnóstico Diferencial , Feminino , Angiofluoresceinografia , Humanos , Verde de Indocianina/administração & dosagem , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Imagem Óptica , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/tratamento farmacológico , Estudos Retrospectivos , Líquido Sub-Retiniano , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologia , Distrofia Macular Viteliforme/tratamento farmacológico , Degeneração Macular Exsudativa/diagnóstico por imagem , Degeneração Macular Exsudativa/tratamento farmacológico , Adulto JovemRESUMO
PURPOSE: To investigate genetic associations in white patients with acute central serous chorioretinopathy (aCSC) and to assess genetic differences between aCSC and chronic CSC (cCSC). METHODS: A total of 135 aCSC patients, 272 cCSC patients, and 1,385 control individuals were included. Eight single nucleotide polymorphisms were genotyped for ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Also, C4B gene copy numbers were analyzed. RESULTS: Three single nucleotide polymorphisms in the CFH gene were significantly associated with aCSC: rs800292 (P = 0.003, odds ratio = 1.53 [95% confidence interval = 1.15-2.03]), rs1061170 (P = 0.002, odds ratio = 0.64 [95% confidence interval = 0.48-0.86]), and rs1329428 (P = 5.87 × 10, odds ratio = 1.83 [95% confidence interval = 1.40-2.38]). A significant difference was found in the distribution of C4B gene copy numbers in aCSC patients compared with controls (P = 0.0042). No differences could be found among the selected variants between aCSC and cCSC patients. CONCLUSION: Three variants in the CFH gene and copy number variations in C4B were found to be significantly associated with the risk of aCSC development. Despite the differences in clinical presentation, acute and chronic CSC may share a similar genetic predisposition based on our present analysis. Other genetic and/or nongenetic risk factors may be more influential in the differentiation toward an acute or a chronic phenotype of CSC.
Assuntos
Coriorretinopatia Serosa Central/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Proteínas/genética , Receptores de Mineralocorticoides/genética , Doença Aguda , Adulto , Idoso , Estudos de Casos e Controles , Coriorretinopatia Serosa Central/diagnóstico , Doença Crônica , Corantes/administração & dosagem , Complemento C4b/genética , Fator H do Complemento/genética , Feminino , Angiofluoresceinografia , Dosagem de Genes , Técnicas de Genotipagem , Humanos , Verde de Indocianina/administração & dosagem , Masculino , Pessoa de Meia-Idade , Oftalmoscopia , Fenótipo , Fatores de Risco , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To assess ophthalmologic characteristics in patients and unaffected individuals in families with multiple members affected by central serous chorioretinopathy (CSC), both at presentation and long-term follow-up. METHODS: In 103 subjects from 23 families with at least 2 affected patients with CSC per family, prospective extensive ophthalmologic examination was performed, including best-corrected visual acuity, indirect ophthalmoscopy, digital color fundus photography, optical coherence tomography, fundus autofluorescence, and fluorescein angiography imaging. From these, 24 individuals from 6 families had undergone extensive ophthalmologic examination in either 1994 or 1995 and were followed up in this study. RESULTS: Subretinal fluid accumulation on optical coherence tomography and/or "hot spots" of leakage on fluorescein angiography indicative of CSC were detected in 45 of 103 phenotyped subjects (44%). Findings suggestive of CSC, but without the presence of subretinal fluid on optical coherence tomography and/or "hot spots" of leakage on fluorescein angiography, were observed in an additional 27 family members (26%). In 4 of 17 previously nonaffected subjects (24%) from the 24 individuals that were followed up after more than 20 years, we found more severe abnormalities. CONCLUSION: Extensive ophthalmologic phenotyping resulted in the detection of (suggestive) CSC in 52% of family members of patients with CSC. Genetic factors may play an important role in these specific CSC cases. Moreover, during follow-up, progressive disease can occur in a noteworthy number of patients.
Assuntos
Coriorretinopatia Serosa Central/genética , Corioide/patologia , Angiofluoresceinografia/métodos , Oftalmoscopia/métodos , Retina/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Coriorretinopatia Serosa Central/diagnóstico , Coriorretinopatia Serosa Central/epidemiologia , Progressão da Doença , Feminino , Seguimentos , Fundo de Olho , Humanos , Incidência , Masculino , Países Baixos/epidemiologia , Linhagem , Fenótipo , Estudos ProspectivosRESUMO
PURPOSE: This prospective case series is aimed at exploring optical coherence tomographic angiography (OCT-A) as a treatment monitoring tool in patients treated for retinal angiomatous proliferation (RAP). METHODS: Twelve treatment-naïve RAP patients were included, with a median age of 79 years (range 65-90). Patients were imaged with an experimental 1,040-nm swept-source phase-resolved OCT-A instrument before and after treatment. Treatment consisted of either intravitreal bevacizumab or triamcinolone injections with or without photodynamic therapy (PDT). Abnormal blood flow after treatment was graded as increased, unchanged, decreased, or resolved. RESULTS: OCT-A images before and after treatment could be obtained in 9 patients. The median follow-up period was 10 weeks (range 5-19). After various treatments, the RAP lesion resolved in 7 patients, in 1 patient the OCT-A depicted decreased flow in the lesion, and 1 patient showed unchanged abnormal blood flow. Monotherapy with intravitreal bevacizumab injections resolved RAP in 1 out of 2 patients. Combined therapy of bevacizumab with PDT resolved RAP in 6 out of 7 patients. CONCLUSIONS: OCT-A visualized resolution of abnormal blood flow in 7 out of 9 RAP patients after various short-term treatment sequences. OCT-A may become an important noninvasive monitoring tool for optimizing treatment strategies in RAP patients.
Assuntos
Bevacizumab/administração & dosagem , Angiofluoresceinografia/métodos , Degeneração Macular/tratamento farmacológico , Fotoquimioterapia/métodos , Neovascularização Retiniana/tratamento farmacológico , Tomografia de Coerência Óptica/métodos , Triancinolona/administração & dosagem , Idoso , Idoso de 80 Anos ou mais , Inibidores da Angiogênese/administração & dosagem , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Feminino , Seguimentos , Fundo de Olho , Glucocorticoides/administração & dosagem , Humanos , Injeções Intravítreas , Degeneração Macular/diagnóstico , Masculino , Fármacos Fotossensibilizantes/uso terapêutico , Estudos Prospectivos , Receptores de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores , Retina/patologia , Neovascularização Retiniana/diagnóstico , Resultado do Tratamento , Acuidade VisualRESUMO
BACKGROUND: Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that severely impairs sight in children. Gene therapy can result in modest improvements in night vision, but knowledge of its efficacy in humans is limited. METHODS: We performed a phase 1-2 open-label trial involving 12 participants to evaluate the safety and efficacy of gene therapy with a recombinant adeno-associated virus 2/2 (rAAV2/2) vector carrying the RPE65 complementary DNA, and measured visual function over the course of 3 years. Four participants were administered a lower dose of the vector, and 8 were administered a higher dose. In a parallel study in dogs, we investigated the relationship among vector dose, visual function, and electroretinography (ERG) findings. RESULTS: Improvements in retinal sensitivity were evident, to varying extents, in six participants for up to 3 years, peaking at 6 to 12 months after treatment and then declining. No associated improvement in retinal function was detected by means of ERG. Three participants had intraocular inflammation, and two had clinically significant deterioration of visual acuity. The reduction in central retinal thickness varied among participants. In dogs, RPE65 gene therapy with the same vector at lower doses improved vision-guided behavior, but only higher doses resulted in improvements in retinal function that were detectable with the use of ERG. CONCLUSIONS: Gene therapy with rAAV2/2 RPE65 vector improved retinal sensitivity, albeit modestly and temporarily. Comparison with the results obtained in the dog model indicates that there is a species difference in the amount of RPE65 required to drive the visual cycle and that the demand for RPE65 in affected persons was not met to the extent required for a durable, robust effect. (Funded by the National Institute for Health Research and others; ClinicalTrials.gov number, NCT00643747.).
Assuntos
DNA Complementar/administração & dosagem , Terapia Genética , Vetores Genéticos/administração & dosagem , Amaurose Congênita de Leber/terapia , Retina/fisiologia , cis-trans-Isomerases/genética , Adolescente , Animais , Criança , Dependovirus , Modelos Animais de Doenças , Progressão da Doença , Cães , Humanos , Amaurose Congênita de Leber/genética , Mutação , Células Fotorreceptoras de Vertebrados , Visão Ocular , Adulto JovemRESUMO
PURPOSE: To describe cases presenting with features of idiopathic macular telangiectasia (MacTel) Type 2 and central serous chorioretinopathy (CSC). METHODS: Databases from four tertiary retina centers were searched for cases copresenting CSC and MacTel Type 2. RESULTS: Five cases were identified (4 men, 1 woman; mean age: 67.2 years). Four patients were referred for chronic or nonresolving CSC, and the diagnosis of MacTel Type 2 was made based on multimodal imaging findings. One patient had advanced MacTel Type 2, and developed acute CSC. Regarding the MacTel Type 2 findings, all subjects presented perifoveal telangiectasia on fluorescein angiography, and four subjects showed intraretinal cavitations typical of MacTel Type 2 on optical coherence tomography, in one or both eyes. Regarding the CSC findings, fluorescein angiography identified focal or extended retinal pigment epithelium alteration in all eyes, and an active leakage in two eyes. Indocyanine green angiography showed choroidal vascular hyperpermeability in four subjects. On optical coherence tomography, pigment epithelial detachments were detected in five eyes (four subjects), and foveal detachments were present in five eyes (three subjects), which spontaneously resolved (two eyes), responded to photodynamic therapy (two eyes), or persisted (one eye). Mean choroidal thickness was 402 ± 99 µm. CONCLUSION: The codiagnosis of CSC and MacTel Type 2 should be considered in atypical presentations associating features from both disorders.
Assuntos
Coriorretinopatia Serosa Central/complicações , Corioide/patologia , Macula Lutea/patologia , Telangiectasia Hemorrágica Hereditária/complicações , Idoso , Coriorretinopatia Serosa Central/diagnóstico , Coriorretinopatia Serosa Central/fisiopatologia , Feminino , Angiofluoresceinografia/métodos , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Retina , Estudos Retrospectivos , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/fisiopatologia , Tomografia de Coerência Óptica/métodos , Acuidade VisualRESUMO
PURPOSE: To study the relationship of choroidal abnormalities with serous retinal detachment (SRD) in eyes with staphyloma, dome-shaped macula, or tilted disk syndrome. METHODS: Group 1, 28 eyes of 20 patients with staphyloma/dome-shaped macula/tilted disk syndrome associated with SRD was compared with Group 2, 30 eyes of 20 patients, with staphyloma/dome-shaped macula/tilted disk syndrome but without SRD. Radial and en-face optical coherence tomography and choroidal analysis were performed. RESULTS: Group 1 had a thicker mean subfoveal choroidal thickness (161 µm vs. 92 µm, P < 0.05) and a greater variation in choroidal thickness (112 µm vs. 76 µm, P > 0.05) compared with eyes of Group 2. Focal abrupt changes in choroidal thickness were more commonly seen in Group 1 versus eyes in Group 2 (90% vs. 30%, P < 0.05) and this area of abrupt change was located within or at the edge of the SRD in 64% of eyes. Large choroidal vessels (pachyvessels) (82% located within the area of SRD) were always associated with the presence of SRD. CONCLUSION: An abrupt transition in choroidal thickness may be involved in the pathogenesis of SRD. In some cases, a radial scan pattern may better demonstrate mild SRD, choroidal contours and the focal choroidal variations than horizontal or vertical raster scan patterns.
Assuntos
Doenças da Coroide/diagnóstico , Corioide/patologia , Macula Lutea/patologia , Disco Óptico/patologia , Doenças do Nervo Óptico/diagnóstico , Descolamento Retiniano/patologia , Doenças da Esclera/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças da Coroide/etiologia , Estudos Transversais , Progressão da Doença , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Nervo Óptico/complicações , Descolamento Retiniano/complicações , Estudos Retrospectivos , Doenças da Esclera/complicações , Síndrome , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto JovemRESUMO
PURPOSE: To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations. METHODS: Patients with clinically suspected and subsequently genetically proven autosomal recessive bestrophinopathy underwent full ophthalmic examination and investigation with fundus autofluorescence imaging, spectral domain optical coherence tomography, electroretinography, and electrooculography. Mutation analysis of the BEST1 gene was performed through direct Sanger sequencing. RESULTS: Five affected patients from four families were identified. Mean age was 16 years (range, 6-42 years). All affected patients presented with reduced visual acuity and bilateral, hyperautofluorescent subretinal yellowish deposits within the posterior pole. Spectral domain optical coherence tomography demonstrated submacular fluid and subretinal vitelliform material in all patients. A cystoid maculopathy was seen in all but one patient. In 1 patient, the location of the vitelliform material was seen to change over a follow-up period of 3 years despite relatively stable vision. Visual acuity and fundus changes were unresponsive to topical and systemic carbonic anhydrase inhibitors and systemic steroids. Carriers had normal ocular examinations including normal fundus autofluorescence. Three novel mutations were detected. CONCLUSION: Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown. Mutations causing autosomal recessive bestrophinopathy are mostly located outside of the exons that usually harbor vitelliform macular dystrophy-associated dominant mutations.
Assuntos
Canais de Cloreto/genética , Oftalmopatias Hereditárias/genética , Proteínas do Olho/genética , Mutação , Doenças Retinianas/genética , Adulto , Bestrofinas , Criança , Análise Mutacional de DNA , Eletroculografia , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/fisiopatologia , Angiofluoresceinografia , Genes Recessivos , Humanos , Reação em Cadeia da Polimerase , Doenças Retinianas/diagnóstico , Doenças Retinianas/fisiopatologia , Tomografia de Coerência Óptica , Acuidade Visual/fisiologiaRESUMO
Central serous chorioretinopathy (CSC) is characterized by leakage of fluid from the choroid into the subretinal space and, consequently, loss of central vision. The disease is triggered by endogenous and exogenous corticosteroid imbalance and psychosocial stress and is much more prevalent in men. We studied the association of genetic variation in 44 genes from stress response and corticosteroid metabolism pathways with the CSC phenotype in two independent cohorts of 400 CSC cases and 1,400 matched controls. The expression of cadherin 5 (CDH5), the major cell-cell adhesion molecule in vascular endothelium, was downregulated by corticosteroids which may increase permeability of choroidal vasculature, leading to fluid leakage under the retina. We found a significant association of four common CDH5 SNPs with CSC in male patients in both cohorts. Two common intronic variants, rs7499886:A>G and rs1073584:C>T, exhibit strongly significant associations with CSC; P = 0.00012; odds ratio (OR) = 1.5; 95%CI [1.2;1.8], and P = 0.0014; OR = 0.70; 95%CI [0.57;0.87], respectively. A common haplotype was present in 25.4% male CSC cases and in 35.8% controls (P = 0.0002; OR = 0.61, 95% CI [0.47-0.79]). We propose that genetically predetermined variation in CDH5, when combined with triggering events such as corticosteroid treatment or severe hormonal imbalance, underlie a substantial proportion of CSC in the male population.