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1.
Artigo em Inglês | MEDLINE | ID: mdl-39422751

RESUMO

PURPOSE: To characterize patients with cytomegalovirus (CMV) retinitis and identify risk factors for retinal detachment (RD) and mortality in this Taiwanese patient population. METHODS: This retrospective study included patients diagnosed with CMV retinitis between 2007 and 2019. The diagnosis was confirmed through aqueous polymerase chain reaction (PCR). Relevant data were collected from the Chang Gung Research Database. Univariate Cox regression was performed to identify the associations of RD and mortality risks with various patient characteristics, including demographic features, comorbidities, laboratory results, and medication use patterns. RESULTS: In total, 32 patients with CMV retinitis were included. Among these patients, 78.1% had an immunocompromised status, including 56.3% with high-dose systemic steroid use, 21.9% with HIV infection, 12.5% with hematologic malignancy, and 9.4% with renal transplantation. Approximately 21.9% of patients had RD 2.4 ± 2.1 months after CMV retinitis diagnosis, and 34.4% died within 6.2 [4.2, 38.2] months after diagnosis. Patients with RD had a statistically significant, but likely not clinically significant, later initiation of anti-CMV medications compared to their non-RD counterparts (8 [5, 23] days vs. 2 [1, 11] days, p = 0.039). Mortality was significantly associated with older age (hazard ratio [HR]: 1.06; 95% confidence interval [CI]: 1.02-1.10), hematologic malignancy (HR: 5.92; 95% CI: 1.44-24.37), and positivity for CMV on blood PCR (HR: 4.93; 95% CI: 1.49-16.35). CONCLUSION: Our study suggests that older age, hematologic malignancy, and positivity for CMV on blood PCR are risk factors for mortality in patients with CMV retinitis. KEY MESSAGES: What is known Cytomegalovirus (CMV) retinitis is the predominant sight-threatening opportunistic ocular infection in patients with acquired immunodeficiency syndrome (AIDS). What is new In the era of highly active antiretroviral therapy for AIDS, the majority of CMV retinitis patients are those receiving immunomodulatory therapy for underlying diseases. Older age, hematologic malignancy, and positive blood polymerase chain reaction for CMV are potential risk factors for mortality in patients with CMV retinitis.

2.
Int J Mol Sci ; 23(23)2022 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-36499293

RESUMO

Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night blindness in childhood with heterogeneous genetic, electrophysical, and clinical characteristics. The development of sequencing technologies and gene therapy have increased the ease and urgency of diagnosing IRDs. This study describes seven Taiwanese patients from six unrelated families examined at a tertiary referral center, diagnosed with CSNB, and confirmed by genetic testing. Complete ophthalmic exams included best corrected visual acuity, retinal imaging, and an electroretinogram. The effects of identified novel variants were predicted using clinical details, protein prediction tools, and conservation scores. One patient had an autosomal dominant CSNB with a RHO variant; five patients had complete CSNB with variants in GRM6, TRPM1, and NYX; and one patient had incomplete CSNB with variants in CACNA1F. The patients had Riggs and Schubert-Bornschein types of CSNB with autosomal dominant, autosomal recessive, and X-linked inheritance patterns. This is the first report of CSNB patients in Taiwan with confirmed genetic testing, providing novel perspectives on molecular etiology and genotype-phenotype correlation of CSNB. Particularly, variants in TRPM1, NYX, and CACNA1F in our patient cohort have not previously been described, although their clinical significance needs further study. Additional study is needed for the genotype-phenotype correlation of different mutations causing CSNB. In addition to genetic etiology, the future of gene therapy for CSNB patients is reviewed and discussed.


Assuntos
Oftalmopatias Hereditárias , Doenças Genéticas Ligadas ao Cromossomo X , Miopia , Cegueira Noturna , Humanos , Oftalmopatias Hereditárias/genética , Oftalmopatias Hereditárias/terapia , Oftalmopatias Hereditárias/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/terapia , Mutação , Miopia/diagnóstico , Miopia/genética , Miopia/terapia , Cegueira Noturna/diagnóstico , Cegueira Noturna/genética , Cegueira Noturna/terapia , Linhagem , Canais de Cátion TRPM/genética
3.
Retina ; 40(3): 572-580, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30531421

RESUMO

OBJECTIVE: This study aims to examine retinal vascular findings for affected eyes and contralateral eyes as well in typical cases of unilateral persistent fetal vasculature. METHODS: We retrospectively reviewed all patients evaluated at Chang Gung Memorial Hospital, Linkou, for unilateral persistent fetal vasculature between January 2008 and July 2017. All patients underwent fluorescein angiography (FA) examination under general anesthesia. FA was performed using RetCam 3 (Clarity Medical Systems, Inc, Pleasanton, CA). RESULTS: Ten patients (eight male and two female) were identified as having adequate clinical data for the final analysis. The mean age at diagnosis was 13.7 ± 17.2 months (range 1-58). The mean axial length was shorter in the affected eyes as compared to the fellow eyes (17.27 ± 2.8 vs. 20.2 ± 1.7 mm; P = 0.024). In the affected eyes, nine cases (90.0%) showed a concomitant retrolental stalk, avascular peripheral retina, regional capillary dropout, and absence of foveal avascular zone. Hyperfluorescent stalk was seen in seven cases (70.0%). Four eyes (40.0%) showed leaking vessels. Terminal supernumerary branching was seen in two cases (20.0%). Popcorn hyperfluorescence was noted in one case (10.0%). In the fellow eyes, peripheral avascular zone was noted in nine eyes (90.0%), of which six (60.0%) had peripheral zones greater than two-disk diameters. Seven eyes (70.0%) presented with regional capillary dropout and abnormal choroidal filling. Three eyes (30.0%) had abnormal vessel straightening. Aberrant circumferential vessels and leaking spots were seen in two eyes (20.0%). Regional dilation of disk vessels, peripheral vessel dilation, and terminal bulbing were noted in one eye (10.0%). The mean best-corrected visual acuity of the fellow eyes was 20/39 (0.29 in logarithm of the minimum angle of resolution). CONCLUSION: Retinal vascular abnormalities in the affected eyes and fundoscopically normal fellow eyes of unilateral persistent fetal vasculature patients were found in 100% and 90.0% of patients, respectively. Fellow eyes had some subtle abnormalities that were only revealed through FA. These unilateral persistent fetal vasculature cases were still bilaterally affected.


Assuntos
Corioide/irrigação sanguínea , Angiofluoresceinografia/métodos , Vítreo Primário Hiperplásico Persistente/diagnóstico , Vasos Retinianos/patologia , Pré-Escolar , Feminino , Fundo de Olho , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos
4.
Retina ; 40(9): 1793-1803, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31800460

RESUMO

PURPOSE: To determine the rates and risk factors of recurrent retinopathy of prematurity (ROP) treated by laser photocoagulation, intravitreal bevacizumab (IVB) monotherapy, or intravitreal ranibizumab (IVR) monotherapy. METHODS: In this retrospective cohort study, consecutive infants with Type 1 ROP who received laser, IVB, or IVR treatments were followed for at least 75 weeks of postmenstrual age. Data analysis was performed between March 2010 and February 2017 in Chang Gung Memorial Hospital, Linkou, Taiwan. RESULTS: A total of 176 infants (340 eyes) were included in this study. The mean follow-up was 197.3 ± 110 weeks. All of the baseline demographic and ROP characteristics among the laser, IVB, and IVR groups were similar. The overall recurrence rate after treatment was 44 of 340 eyes (12.9%). The IVB group had a recurrence rate of 10.0%, followed by the laser group (18.0%) and the IVR group (20.8%); however, these rates were not significantly different (P = 0.0528). Compared with the laser group, the IVB and IVR groups exhibited recurrence at later ages (43.4 ± 3.5 weeks for the IVB group, 42.3 ± 2.0 weeks for the IVR group, and 39.5 ± 2.8 weeks for the laser group; P = 0.0058). The mean interval of recurrence from initial treatment in the laser group was 3.6 ± 1.4 weeks compared with 8.8 ± 3.9 weeks and 8.3 ± 1.6 weeks in the IVB and IVR groups, respectively (P = 0.0001). Overall, the independent risk factors of recurrence included an early postmenstrual age at initial treatment (P = 0.0160), Zone I (P = 0.0007), low Apgar score (P = 0.0297), and multiple births (P = 0.0285). There was no significant difference in progression to retinal detachment among the three groups (laser: 3/61, 4.9%; IVB: 2/231, 0.9%;and IVR: 1/48, 2.1%; P = 0.2701). CONCLUSION: Laser, IVR, and IVB are effective for Type 1 ROP. Retinopathy of prematurity recurrence requiring re-treatment was encountered as late as 50 weeks of postmenstrual age after IVB or IVR but earlier after laser. Longer follow-up for infants treated with anti-vascular endothelial growth factor is needed, especially in patients with significant risk factors such as an early postmenstrual age at initial treatment, Zone I ROP, low Apgar score, and multiple births.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Fotocoagulação a Laser , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/epidemiologia , Bevacizumab/uso terapêutico , Peso ao Nascer , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Injeções Intravítreas , Masculino , Oftalmoscopia , Ranibizumab/uso terapêutico , Recidiva , Retinopatia da Prematuridade/terapia , Estudos Retrospectivos , Fatores de Risco , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores
5.
Graefes Arch Clin Exp Ophthalmol ; 257(3): 447-452, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30547319

RESUMO

Interferons are cytokines that regulate the host's response to viral infection, particularly in the setting of the immunologic response to the hepatitis C virus (HCV). While the virus has the ability to evade the host's innate and specific immunity, exogenous interferon-α with combined ribavirin, treatments have been found to achieve a significant sustained viral response in subgroups of patients with chronic HCV. One of the major side effects of interferon-α is an ocular retinopathy characterized by flame-shaped hemorrhages and cotton wool spots visualized on funduscopic examination. There have been documented cases of more severe side effects including optic nerve and retinal artery damage; however, these instances are the minority. We sought to investigate the literature surrounding interferon-induced retinopathy, clinically correlate our findings with two recent cases, and provide recommendations for practitioners who continue to manage chronic HCV patients using interferon-α with combined ribavirin treatments.


Assuntos
Hepatite C Crônica/tratamento farmacológico , Interferon-alfa/efeitos adversos , Guias de Prática Clínica como Assunto , Doenças Retinianas/induzido quimicamente , Antivirais/efeitos adversos , Antivirais/uso terapêutico , Humanos , Interferon-alfa/uso terapêutico , Retina/efeitos dos fármacos , Retina/patologia , Doenças Retinianas/diagnóstico , Tomografia de Coerência Óptica
6.
Graefes Arch Clin Exp Ophthalmol ; 256(3): 479-487, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29290015

RESUMO

BACKGROUND: To investigate the levels of VEGF in the systemic circulation of patients with type 1 ROP who received intravitreal injections of 1 mg (0.025 mL) aflibercept (IVA) or 0.625 mg (0.025 mL) bevacizumab (IVB). METHODS: Patients who had type 1 ROP and received either IVA or IVB were enrolled in this prospective study. Serum and plasma samples were collected prior to and up to 12 weeks after IVB or IVA treatment. The serum and plasma VEGF levels were measured using enzyme-linked immunosorbent assays (ELISAs), and the platelet levels in the blood were also quantified. The serum and plasma levels of VEGF, as well as the ratio of VEGF to platelet count (VEGF/PLT) were measured prior to and up to 12 weeks after anti-VEGF treatment. RESULTS: In total, 14 patients with type 1 ROP were enrolled in this study; five patients received IVA, and nine patients received IVB. Following either IVA or IVB treatment, all the eyes (100%) showed complete resolution of ROP-induced abnormal neovascularization and presented continued vascularization toward the peripheral retina. Compared to baseline, the serum VEGF levels were significantly reduced in the ROP patients up to 12 weeks after either IVA or IVB treatments (all P < 0.05). At 2, 4, and 8 weeks after intravitreal injection, the serum VEGF levels were more suppressed in the IVB group than in the IVA group (P = 0.039, P = 0.004, and P = 0.003, respectively). The serum VEGF/PLT ratio after IVA or IVB showed similar reductions and trends as the serum VEGF data. Changes in the plasma VEGF levels could not be properly assessed because some of the samples had VEGF levels below the detection limit of the ELISA. CONCLUSIONS: Serum VEGF levels and the VEGF/PLT ratio in patients with type 1 ROP were suppressed for 3 months after treatment with either IVA or IVB, but the suppression of systemic VEGF was more pronounced in patients treated with IVB than those treated with IVA.


Assuntos
Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Proteínas Recombinantes de Fusão/administração & dosagem , Retinopatia da Prematuridade/tratamento farmacológico , Fatores de Crescimento do Endotélio Vascular/sangue , Inibidores da Angiogênese/administração & dosagem , Biomarcadores/sangue , Relação Dose-Resposta a Droga , Ensaio de Imunoadsorção Enzimática , Feminino , Seguimentos , Humanos , Recém-Nascido , Injeções Intravítreas , Masculino , Prognóstico , Estudos Prospectivos , Receptores de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores , Retinopatia da Prematuridade/sangue , Retinopatia da Prematuridade/diagnóstico , Fatores de Tempo , Resultado do Tratamento
7.
Retina ; 38(2): 263-271, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28196060

RESUMO

PURPOSE: To determine the incidence and clinical characteristics of angiographic subtypes of polypoidal choroidal vasculopathy (PCV). METHODS: It is a prospective, multicenter, cross-sectional study. Patients with newly diagnosed exudative macular degeneration are classified into PCV, age-related macular degeneration (AMD), and retinal angiomatous proliferation. Polypoidal choroidal vasculopathy is further classified into two subtypes depending on the presence (Type 1: polypoidal choroidal neovascularization) or absence (Type 2: typical PCV) of feeder vessels on indocyanine green angiography. RESULTS: We enrolled 169 patients: 76 (45%) with PCV, 75 (44.4%) with AMD, and 14 (8.3%) with retinal angiomatous proliferation. Of the patients with PCV, 20 (26%) were classified as Type 1 PCV and 56 (74%) were classified as Type 2 PCV. The Type 1 PCV had a similar mean age compared to the AMD group (73.1 ± 9.6 vs. 75.6 ± 8.8 years, P = 0.281) and the Type 2 PCV (68.8 ± 9.6 years) was younger than the AMD group (P < 0.001). Type 1 PCV presented with worse visual acuity compared with the AMD. Both PCV subtypes had a higher incidence of hemorrhagic complications (85% and 75% respectively). CONCLUSION: Type 2 PCV is more common than Type 1 PCV in Taiwan. Our results support the hypothesis that polypoidal choroidal neovascularization and typical PCV may be distinct entities.


Assuntos
Doenças da Coroide/diagnóstico , Corioide/irrigação sanguínea , Angiofluoresceinografia/métodos , Pólipos/diagnóstico , Vasos Retinianos/patologia , Idoso , Idoso de 80 Anos ou mais , Doenças da Coroide/classificação , Doenças da Coroide/epidemiologia , Estudos Transversais , Feminino , Seguimentos , Fundo de Olho , Humanos , Incidência , Masculino , Estudos Prospectivos , Taiwan/epidemiologia , Acuidade Visual
8.
Retina ; 38(5): 1047-1057, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-28376043

RESUMO

PURPOSE: To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies. METHODS: We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM). Details of abnormalities of retinal morphology were evaluated using fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain optical coherence tomography. RESULTS: In six X-linked retinitis pigmentosa carriers, fundus appearance varied from unremarkable to the presence of tapetal-like reflex and pigmentary changes. On FAF imaging, all carriers exhibited a bright radial reflex against a dark background. By spectral domain optical coherence tomography, loss of the ellipsoid zone in the macula was observed in 3 carriers (50%). Regarding the retinal laminar architecture, 4 carriers (66.7%) showed thinning of the outer nuclear layer and a dentate appearance of the outer plexiform layer. All five X-linked ocular albinism carriers showed a characteristic mud-splatter patterned fundus, dark radial streaks against a bright background on FAF imaging, and a normal-appearing retinal structure by spectral domain optical coherence tomography imaging. Two of the 3 CHM carriers (66.7%) showed a diffuse moth-eaten appearance of the fundus, and all 3 showed irregular hyper-FAF and hypo-FAF spots throughout the affected area. In the CHM carriers, the structural changes observed by spectral domain optical coherence tomography imaging were variable. CONCLUSION: Our findings in an Asian cohort suggest that FAF imaging is a practical diagnostic test for differentiating X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM carriers. Wide-field FAF is an easy and helpful adjunct to testing for the correct diagnosis and identification of lyonization in carriers of these three mosaic retinopathies.


Assuntos
Albinismo Ocular/patologia , Coroideremia/patologia , Técnicas de Diagnóstico Oftalmológico , Triagem de Portadores Genéticos , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Retinose Pigmentar/patologia , Adulto , Albinismo Ocular/diagnóstico por imagem , Criança , Pré-Escolar , Coroideremia/diagnóstico por imagem , Feminino , Angiofluoresceinografia , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Estudos Prospectivos , Retinose Pigmentar/diagnóstico por imagem , Tomografia de Coerência Óptica , Adulto Jovem
10.
Retina ; 37(4): 694-701, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27467377

RESUMO

PURPOSE: To investigate vascular endothelial growth factor (VEGF) levels in the systemic circulation after intravitreal injections of bevacizumab (IVB) or ranibizumab (IVR) in patients with Type 1 retinopathy of prematurity (ROP). METHODS: Patients who had Type 1 ROP and received IVB or IVR were enrolled. Serum samples were collected before and up to 12 weeks after IVB or IVR treatment. The main outcome measurements were serum levels of VEGF up to 12 weeks after anti-VEGF treatment. RESULTS: In total, 10 patients with Type 1 ROP were enrolled in this study. All the eyes had complete resolution of abnormal neovascularization of ROP after IVB or IVR. In the direct comparison of IVB with IVR, serum VEGF was found to be suppressed more in patients with Type 1 ROP who received IVB treatment, compared with those who received IVR treatment (P = 0.01, P = 0.03, and P = 0.03, respectively, 2, 4, and 8 weeks after intravitreal injection). CONCLUSION: Serum VEGF levels in patients with Type 1 ROP were suppressed for 2 months after treatment with IVB, and VEGF levels were less affected after IVR treatment. Further studies are warranted to investigate the long-term effects of VEGF changes in ROP patients.


Assuntos
Bevacizumab/uso terapêutico , Ranibizumab/uso terapêutico , Retinopatia da Prematuridade/sangue , Retinopatia da Prematuridade/tratamento farmacológico , Fator A de Crescimento do Endotélio Vascular/sangue , Inibidores da Angiogênese/uso terapêutico , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Injeções Intravítreas , Masculino , Estudos Prospectivos
11.
BMC Ophthalmol ; 16: 27, 2016 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-26975871

RESUMO

BACKGROUND: Controlling retinoblastoma with seeding is challenging despite advances in treatment modalities. Intravitreal melphalan is an alternative to external beam radiation or enucleation for recurrent or refractory vitreous seeds. Significant ocular side effects following intravitreal melphalan injections are uncommon. Complications have been reported in eyes receiving higher concentrations of melphalan and repetitive injections. We report a case in which diffuse chorioretinal atrophy was developed at the injection site after a single, standard low-dose intravitreal melphalan injection. CASE PRESENTATION: A 12-month-old female child without a family history of retinoblastoma presented with unilateral group C retinoblastoma in her right eye. A solitary tumour with retinal breaks on the tumour surface, and vitreous seeds overlying the tumour were observed at the 8 o'clock position of the retina. After two cycles of intra-arterial chemotherapy with melphalan, the main tumour displayed significant regression, but the vitreous seeds overlying the main tumour were still active. Because of the persistence of vitreous seeds and the inadequate response to intra-arterial melphalan treatment, intravitreal melphalan (8 µg in 0.05 mL) was injected using a 32-gauge needle 2.5 mm from the 5 o'clock position of the limbus, the meridian opposite to the vitreous seeds. After 1 month, the retina around the injection site demonstrated diffuse retinal pigment epithelium alterations with dense hard exudates. Although the main retinal mass, and vitreous seeds resolved, the hard exudates persisted for more than 2 years after the single low-dose melphalan injection. CONCLUSIONS: Intravitreal melphalan injections should be cautiously used for eyes with refractory seeds, particularly when multiple injections are required to control retinoblastoma seeds. Dose- related retinal toxicity could occur in pre-treated eyes even when a relatively low standard dose is used. Such patients should be followed up closely to monitor the treatment response and to assess potential delayed toxicity.


Assuntos
Antineoplásicos Alquilantes/efeitos adversos , Melfalan/efeitos adversos , Distrofias Retinianas/induzido quimicamente , Neoplasias da Retina/tratamento farmacológico , Retinoblastoma/tratamento farmacológico , Antineoplásicos Alquilantes/administração & dosagem , Atrofia , Feminino , Humanos , Lactente , Injeções Intravítreas , Melfalan/administração & dosagem , Retina/efeitos dos fármacos , Retina/patologia , Distrofias Retinianas/diagnóstico , Neoplasias da Retina/patologia , Retinoblastoma/patologia
12.
Mol Vis ; 21: 487-501, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25999676

RESUMO

PURPOSE: To investigate the clinical characteristics of X-linked retinoschisis (XLRS) and identify genetic mutations in Taiwanese patients with XLRS. METHODS: This study included 23 affected males from 16 families with XLRS. Fundus photography, spectral domain optical coherent tomography (SD-OCT), fundus autofluorescence (FAF), and full-field electroretinograms (ERGs) were performed. The coding regions of the RS1 gene that encodes retinoschisin were sequenced. RESULTS: The median age at diagnosis was 18 years (range 4-58 years). The best-corrected visual acuity ranged from no light perception to 20/25. The typical spoke-wheel pattern in the macula was present in 61% of the patients (14/23) while peripheral retinoschisis was present in 43% of the patients (10/23). Four eyes presented with vitreous hemorrhage, and two eyes presented with leukocoria that mimics Coats' disease. Macular schisis was identified with SD-OCT in 82% of the eyes (31/38) while foveal atrophy was present in 18% of the eyes (7/38). Concentric area of high intensity was the most common FAF abnormality observed. Seven out of 12 patients (58%) showed electronegative ERG findings. Sequencing of the RS1 gene identified nine mutations, six of which were novel. The mutations are all located in exons 4-6, including six missense mutations, two nonsense mutations, and one deletion-caused frameshift mutation. CONCLUSIONS: XLRS is a clinically heterogeneous disease with profound phenotypic inter- and intrafamiliar variability. Genetic sequencing is valuable as it allows a definite diagnosis of XLRS to be made without the classical clinical features and ERG findings. This study showed the variety of clinical features of XLRS and reported novel mutations.


Assuntos
Proteínas do Olho/genética , Genes Ligados ao Cromossomo X , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mutação , Retinosquise/diagnóstico , Retinosquise/genética , Adolescente , Adulto , Sequência de Aminoácidos , Povo Asiático/genética , Criança , Pré-Escolar , Sequência Conservada , Análise Mutacional de DNA , Eletrorretinografia , Éxons/genética , Feminino , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Homologia de Sequência de Aminoácidos , Taiwan , Adulto Jovem
13.
Retina ; 35(1): 141-8, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25170854

RESUMO

PURPOSE: To investigate the 2-year outcomes of the natural history of retinopathy of prematurity (ROP) in Taiwan. METHODS: A prospective study was conducted at two tertiary medical centers. Premature infants were screened and examined for ROP. The postmenstrual ages of developing each stage of ROP and the associated risk factors were recorded. RESULTS: A total of 698 infants were included. The incidences of ROP and treatment-requiring ROP in all patients with ROP were 29.7% and 37.2%. When only including patients with birth weight of 1,250 g or less, the incidences were 62.2% and 39.1%, respectively. In patients with ROP with birth weight over 1,250 g, 25% of them developed treatment-requiring ROP. The median postmenstrual ages for the development of Stage 1, Stage 2, and Type 1 ROP were 33.0, 34.0, and 34.7 weeks, respectively. Gestational age at birth and birth weight were the most important factors associated with treatment-requiring ROP (hazard ratios of 0.3 and 0.6). CONCLUSION: Our hospital-based study reveals an earlier postmenstrual age of developing ROP in this Asian population than in the Early Treatment for ROP study. Infants with birth weight over 1,250 g could still develop treatment-requiring ROP. Suboptimal oxygen control, different genetic dispositions among different races, inconsistencies in ROP diagnosis, and earlier screening might account for such a phenomenon.


Assuntos
Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/epidemiologia , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Unidades de Terapia Intensiva Neonatal , Triagem Neonatal , Oftalmoscopia , Estudos Prospectivos , Retinopatia da Prematuridade/classificação , Fatores de Risco , Taiwan/epidemiologia
14.
Eye (Lond) ; 38(4): 778-785, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37865724

RESUMO

OBJECTIVES: To investigate the changes in the temporal vascular angles after epiretinal membrane (ERM) surgery and utilize the angles to predict visual outcomes. METHODS: A total of 168 eyes from 84 patients with unilateral ERM who underwent vitrectomy were enrolled from a single institution. The angles of temporal venous (anglevein) and arterial arcades (angleartery) were measured on fundus photographs. The relationships between the angles and the best-corrected visual acuity (BCVA) were explored and multivariable logistic models and receiver operating characteristic (ROC) curves were analyzed to identify the factors that predicted visual outcomes. RESULTS: At baseline, both angleartery and anglevein were narrower in the eyes with ERM than the fellow eyes (p < 0.001 and 0.007) but had no correlation with the baseline BCVA (p = 0.754 and 0.804). Postoperatively, the angleartery and anglevein significantly widened (both p < 0.001) and a greater BCVA improvement was associated with a greater widening of the angleartery (p = 0.029) and anglevein (p = 0.050). Multivariable logistic analyses found a narrower baseline angleartery compared to the fellow eye had a higher chance for BCVA improvement ≧ 2 lines (Odds ratio = 0.97; 95% CI, 0.94-0.99; p = 0.016). ROC curve showed the baseline difference in the angleartery between bilateral eyes predicted BCVA improvement ≧ 2 lines (area under the curve = 0.74; p = 0.035), and a 0.73 sensitivity and 0.80 specificity with a cut-off value of -27.19 degrees. CONCLUSIONS: The retinal vascular angles widened after ERM surgery and the fundus photograph-derived angles may serve as a highly-accessible biomarker to predict postoperative visual outcomes.


Assuntos
Membrana Epirretiniana , Macula Lutea , Humanos , Membrana Epirretiniana/cirurgia , Tomografia de Coerência Óptica , Acuidade Visual , Vitrectomia , Biomarcadores , Estudos Retrospectivos
16.
Taiwan J Ophthalmol ; 13(4): 556-559, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38249498

RESUMO

We report a case of successful management of intravitreal injections of anti-vascular endothelial growth factor antibody bevacizumab in two unusual complications, preretinal neovascularization and vitreous hemorrhage, secondary to a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). A male pediatric patient suffered from decreased vision in the right eye at 5-year-old. His ophthalmologic examination revealed a CHRRPE involving the superior area of the optic disc and macula in the right eye. The patient's family history and neurological examinations of tuberous sclerosis were absent. While no lesion growth was observed over time, preretinal vascularization and recurrent nonclearing hemorrhage occurred 2 years after the initial presentation. The patient was successfully managed with two intravitreal injections of bevacizumab. No recurrences of vitreous hemorrhage were observed at a 7-year post-treatment follow-up. Intravitreal injections of bevacizumab were safe and effective in the management of uncommon complications of preretinal neovascularization and vitreous hemorrhage of CHRRPE in a pediatric patient in long-term follow-up.

17.
Invest Ophthalmol Vis Sci ; 64(1): 15, 2023 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-36656566

RESUMO

Purpose: Choroidal melanoma (CM) and ciliary body melanoma (CBM) are the two most common subtypes of uveal melanoma. Starting from the observation that CBM tends to have a higher metastatic potential than CM, we hypothesized that specific cytogenetic abnormalities could be associated with tumor location - reflecting distinct genetic signatures that would drive the risk of distant spread. Methods: Chromosomal alterations were investigated by molecular cytogenetic techniques in 217 and 97 patients with CM and CBM, respectively. Cox proportional hazards regression analysis was used to identify the independent predictors of distant metastasis. Results: Patients with CBM had larger tumor sizes (P < 0.001), higher disease stages (P < 0.001), and more frequently showed distant metastasis (P = 0.002) than those with CM. On analyzing the entire study cohort, we found that specific chromosomal alterations - including chromosome 8p loss (P < 0.001), 1p loss (P < 0.001), and monosomy 3 (P < 0.005) - were independent predictors of distant metastasis. Based on a decision-tree learning algorithm, we identified three specific subgroups of patients with uveal melanoma at high risk of distant spread. Monosomy 3 occurred significantly more frequently in patients with T3 CBM tumors. Conclusions: Specific cytogenetic abnormalities - including chromosome 8p loss, 1p loss, and monosomy 3 - are independent risk factors for distant metastasis in uveal melanoma. Larger tumor size at presentation and monosomy 3 contribute to a higher metastatic risk in patients with CBM.


Assuntos
Neoplasias da Coroide , Melanoma , Neoplasias Uveais , Humanos , Corpo Ciliar/patologia , Neoplasias Uveais/genética , Neoplasias Uveais/patologia , Melanoma/genética , Melanoma/patologia , Neoplasias da Coroide/genética , Neoplasias da Coroide/patologia , Deleção Cromossômica , Monossomia , Fatores de Risco , Cromossomos Humanos Par 3/genética
18.
Ocul Immunol Inflamm ; 31(10): 2009-2017, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36696667

RESUMO

PURPOSE: To assess the epidemiology, treatment, and outcomes of juvenile idiopathic arthritis (JIA)-associated uveitis (JIA-U) in Taiwan. METHODS: Retrospective, multicenter database. RESULTS: Totally, 44 (6.1%) of the 722 JIA patients had uveitis. The mean ages of JIA and JIA-U diagnosis were 10.7 and 11.1 years, respectively. JIA-U patients had more antinuclear antibody presence. Among JIA-U patients, 25 (56.8%) were male, 11 (25.0%) experienced any ocular complication, and 8 (18.2%) received ocular surgery. Inactivity lasting ≥6 months was achieved in 17 (38.6%) patients; however, 11 (25.0%) of those experienced reactivation with a mean of 624.7 days after achieving inactivity. Female had more ocular complications and surgeries. CONCLUSION: Late age at JIA-U diagnosis and male predominance were distinctive in Taiwan. For patients with inactivity lasting ≥ 6 months was achieved, they still required close follow-up due to the high reactivation rate within 2 years. Female had poorer ocular outcomes.


Assuntos
Artrite Juvenil , Uveíte , Humanos , Masculino , Feminino , Criança , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico , Artrite Juvenil/epidemiologia , Estudos Retrospectivos , Taiwan/epidemiologia , Uveíte/diagnóstico , Uveíte/epidemiologia , Uveíte/etiologia
20.
Ophthalmology ; 119(9): 1907-16, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22578258

RESUMO

PURPOSE: To examine the optical components and spectral-domain optical coherence tomography (OCT) findings in children with a history of retinopathy of prematurity (ROP) and to identify any associations between the OCT findings and the visual acuities of the patients. DESIGN: Prospective, case-controlled study. PARTICIPANTS AND CONTROLS: Children who were between 6 and 14 years of age were divided into the following 4 groups: Patients with a history of threshold ROP who had been treated using laser therapy or cryotherapy (group 1), patients with regressed ROP who had not received any treatment (group 2), patients who were born prematurely but who had no history of ROP (group 3), and normal full-term children (group 4). The posterior poles of the eyes of all of the patients seemed to be normal. METHODS: Visual acuities, optical components, and macular thicknesses were measured in 4 groups of patients, and comparisons between the groups were made. Macular thicknesses were measured using OCT. MAIN OUTCOME MEASURES: Visual acuity (VA), optical components, and OCT findings. RESULTS: We enrolled 133 patients in the study. Patients in group 1 had significantly thicker foveas than the other patients, as demonstrated by OCT, and this finding was negatively correlated with gestational age. The incidence of abnormal foveal contours among patients in group 1 was significantly higher than among the rest of the patients. Retention of the inner retinal layers was noted in group 1 patients; however, the structure of the outer retina remained intact. Greater degrees of myopic shift and astigmatism, steeper corneal curvatures, shallower anterior chamber depths, and thicker lenses were noted in previously treated ROP patients. These findings corresponded with poor VA and high refractive errors in group 1 patients. CONCLUSIONS: Patients with a history of threshold ROP are more likely to show abnormal foveal development and have a poorer visual prognosis than other patient groups despite a fundus with no macular dragging, disc dragging, or retinal detachment. A steeper corneal curvature, shallower anterior chamber, and greater lens thickness are the main changes in the optical components in these patients.


Assuntos
Macula Lutea/patologia , Erros de Refração/fisiopatologia , Retinopatia da Prematuridade/fisiopatologia , Acuidade Visual/fisiologia , Adolescente , Peso ao Nascer , Estudos de Casos e Controles , Criança , Crioterapia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Terapia a Laser , Masculino , Estudos Prospectivos , Retinopatia da Prematuridade/cirurgia , Tomografia de Coerência Óptica
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