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1.
PLoS One ; 15(4): e0227240, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32298265

RESUMO

This study examined and compared outcomes of deep learning (DL) in identifying swept-source optical coherence tomography (OCT) images without myopic macular lesions [i.e., no high myopia (nHM) vs. high myopia (HM)], and OCT images with myopic macular lesions [e.g., myopic choroidal neovascularization (mCNV) and retinoschisis (RS)]. A total of 910 SS-OCT images were included in the study as follows and analyzed by k-fold cross-validation (k = 5) using DL's renowned model, Visual Geometry Group-16: nHM, 146 images; HM, 531 images; mCNV, 122 images; and RS, 111 images (n = 910). The binary classification of OCT images with or without myopic macular lesions; the binary classification of HM images and images with myopic macular lesions (i.e., mCNV and RS images); and the ternary classification of HM, mCNV, and RS images were examined. Additionally, sensitivity, specificity, and the area under the curve (AUC) for the binary classifications as well as the correct answer rate for ternary classification were examined. The classification results of OCT images with or without myopic macular lesions were as follows: AUC, 0.970; sensitivity, 90.6%; specificity, 94.2%. The classification results of HM images and images with myopic macular lesions were as follows: AUC, 1.000; sensitivity, 100.0%; specificity, 100.0%. The correct answer rate in the ternary classification of HM images, mCNV images, and RS images were as follows: HM images, 96.5%; mCNV images, 77.9%; and RS, 67.6% with mean, 88.9%.Using noninvasive, easy-to-obtain swept-source OCT images, the DL model was able to classify OCT images without myopic macular lesions and OCT images with myopic macular lesions such as mCNV and RS with high accuracy. The study results suggest the possibility of conducting highly accurate screening of ocular diseases using artificial intelligence, which may improve the prevention of blindness and reduce workloads for ophthalmologists.


Assuntos
Neovascularização de Coroide/diagnóstico , Aprendizado Profundo , Interpretação de Imagem Assistida por Computador/métodos , Miopia/diagnóstico , Retinosquise/diagnóstico , Adulto , Idoso , Cegueira/prevenção & controle , Corioide/diagnóstico por imagem , Neovascularização de Coroide/complicações , Conjuntos de Dados como Assunto , Diagnóstico Diferencial , Feminino , Humanos , Macula Lutea/diagnóstico por imagem , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Miopia/etiologia , Curva ROC , Retinosquise/complicações , Índice de Gravidade de Doença , Tomografia de Coerência Óptica
3.
Invest Ophthalmol Vis Sci ; 61(3): 19, 2020 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-32176269

RESUMO

Purpose: The purpose of this study was to analyze the clinical features of dome-shaped macula (DSM) in highly myopic eyes and its morphological relationship with myopic retinoschisis (MRS). Methods: In this cross-sectional study, 409 eyes of 409 patients with high myopia who had spectral-domain optical coherence tomography (OCT) examinations were included. The associations of DSM with the distribution of MRS and ocular biometry were evaluated. Results: Of 409 eyes, DSM was detected in 64 eyes (15.6%). The eyes with DSM were more myopic (-18.8 ± 3.9 vs. -13.4 ± 5.9; P < 0.001) and had longer axial length (31.7 ± 2.4 vs. 29.5 ± 2.5; P < 0.001) compared with those without DSM. A higher rate of extrafoveal retinoschisis (35.9% vs. 9.6%; P < 0.001) and a lower rate of foveoschisis (10.9% vs. 26.1%; P = 0.01) were detected in the eyes with DSM compared with those without DSM. In the eyes with DSM, MRS was detected in 30 eyes (46.9%). MRS predominantly affected the extrafoveal area (76.7%), especially the base of the dome (82.6%). The extrafoveal retinoschisis was most frequently distributed in the superior quadrant (52.2%). None of the eyes with DSM displayed fovea-only retinoschisis. The ratio of the height and width of the macular bulge was higher in eyes with MRS than those without MRS (0.05 vs. 0.04; P = 0.001). Conclusions: A DSM is found in highly myopic eyes with a longer axial length. MRS in eyes with DSM is more likely to affect the extrafoveal area, especially the base of the dome. A steeper macular bulge is associated with the occurrence of MRS.


Assuntos
Macula Lutea/patologia , Miopia/complicações , Retinosquise/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biometria/métodos , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Macula Lutea/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Miopia/diagnóstico por imagem , Miopia/patologia , Retinosquise/diagnóstico por imagem , Retinosquise/patologia , Tomografia de Coerência Óptica/métodos , Adulto Jovem
4.
Optom Vis Sci ; 97(2): 104-109, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-32011583

RESUMO

SIGNIFICANCE: Peripapillary retinoschisis is associated with primary and secondary glaucoma. It is important that clinicians are familiar with the presentation and management of peripapillary retinoschisis to understand its effects on the patient's glaucoma and to avoid unnecessary referral when the macula is not involved. PURPOSE: We present a case of peripapillary retinoschisis found incidentally on routine optical coherence tomographic (OCT) surveillance of primary open-angle glaucoma. CASE REPORT: A 70-year-old man presented for his annual diabetic eye examination. Surveillance with OCT revealed a splitting of the inner peripapillary retina corresponding to a previously noted notch in the right optic nerve. Further imaging of the right eye using enhanced depth imaging OCT revealed a defect in the lamina cribrosa that may have contributed to the formation and persistence of peripapillary retinoschisis. Retinal nerve fiber layer analysis showed a 5-year history of progressive temporal and inferotemporal thickening in the right eye. The patient was managed conservatively with instruction on regular Amsler grid testing. CONCLUSIONS: As seen in this case, peripapillary retinoschisis typically alters retinal nerve fiber layer thickness on OCT and can be mistakenly attributed to glaucomatous change. Glaucoma-associated peripapillary retinoschisis is usually not vision threatening and can be managed conservatively; in rare cases of progression to macular involvement, patients should be referred to a retina specialist.


Assuntos
Glaucoma de Ângulo Aberto/diagnóstico por imagem , Disco Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/diagnóstico por imagem , Retinosquise/diagnóstico por imagem , Idoso , Humanos , Pressão Intraocular/fisiologia , Masculino , Fibras Nervosas/patologia , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica/métodos
5.
Am J Ophthalmol ; 212: 98-104, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31765628

RESUMO

PURPOSE: To explore the experiences of parents of sons with X-linked retinoschisis (XLRS). DESIGN: Mixed methods-qualitative interviews with quantitative survey. METHODS: Parents of sons with XLRS who were evaluated at the National Eye Institute between December 2017 and January 2019 were eligible for this study. Participation involved engaging in a semistructured interview and completing a survey assessing optimism, anxiety, personality traits, and sociodemographics using valid and reliable scales. Interview transcripts were coded and analyzed thematically, and scales were scored and used descriptively. RESULTS: Eleven mothers and 8 fathers from 13 families participated. Optimism, anxiety, and personality traits fell into the normative ranges for the scales. Parents described a process of continuous adaptation to their son's condition. The initial diagnosis was characterized by shock, grief, and "devastation" for most parents. Maternal guilt was common, but usually lessened over time. As parents adjusted to life postdiagnosis, they attempted to achieve a state of normalcy while balancing a desire to protect their sons. Significant sources of stress included decisions around sports participation and driving. Among all parents, the fear of retinal detachment was an ongoing concern. Most parents did identify perceived benefits from their experiences, such as feelings of gratitude or family cohesion. CONCLUSIONS: Most parents viewed XLRS as a significant challenge in their sons' lives, but one that could be overcome. Clinical encounters may be enhanced for families with XLRS by providing accurate information, preparing families for potential challenges, anticipating stressful decisions, and meeting other families with XLRS.


Assuntos
Atitude Frente a Saúde , Pai/psicologia , Mães/psicologia , Poder Familiar/psicologia , Retinosquise/psicologia , Adaptação Psicológica , Adolescente , Adulto , Ansiedade/etiologia , Criança , Feminino , Culpa , Humanos , Masculino , Pessoa de Meia-Idade , Núcleo Familiar , Relações Pais-Filho , Educação de Pacientes como Assunto , Percepção , Qualidade de Vida , Esportes/psicologia , Adulto Jovem
6.
Eur J Ophthalmol ; 30(2): 392-395, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31766876

RESUMO

PURPOSE: To describe a new surgical technique, using a human amniotic membrane patch, in two cases of retinal detachment with paravascular retinal breaks over patchy chorioretinal atrophy in pathologic myopia, already underwent pars plana vitrectomy with the internal limiting membrane peeling for myopic foveoschisis. METHODS: Surgical technique description with surgical video. A 23-gauge pars plana vitrectomy was performed. A human amniotic membrane patch was implanted under the neuroretina to seal the posterior retinal break. Standard silicone oil tamponade was performed at the end of the surgery. The patients were positioned face down after the operation for the first week. Optical coherence tomography scans were used in the follow-ups. RESULTS: The 2 weeks postoperative optical coherence tomography showed a new tissue growth over the human amniotic membrane patch. The 3 months optical coherence tomography showed the new tissue entirely covering the human amniotic membrane plug. Visual acuity improved from 20/2000 (2 LogMAR) to 20/250 (1.1 LogMAR) 3 months after the operation in both patients. The silicone oil was extracted 2 months after surgery, and no recurrences were observed. The patient's visual acuity remained stable at 20/250 after the silicone oil extraction. CONCLUSION: In these complex cases, human amniotic membrane transplantation can be a valid option, when internal limiting membrane has already been peeled in previous surgeries, to seal the posterior retinal breaks over high myopic chorioretinal atrophy, with encouraging results.


Assuntos
Âmnio/cirurgia , Miopia Degenerativa/complicações , Descolamento Retiniano/cirurgia , Perfurações Retinianas/cirurgia , Vitrectomia/métodos , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miopia Degenerativa/cirurgia , Retina/patologia , Retinosquise/cirurgia , Estudos Retrospectivos , Óleos de Silicone/administração & dosagem , Tomografia de Coerência Óptica , Acuidade Visual
7.
Ophthalmic Surg Lasers Imaging Retina ; 50(12): 791-794, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31877225

RESUMO

A 57-year-old female presented with macula-involving retinal detachment secondary to degenerative retinoschisis. She was repaired with transscleral cryotherapy to both inner and outer retinoschisis breaks followed by intravitreal sulfur hexafluoride (SF6) gas injection and anterior chamber paracentesis. Postoperative imaging at 4 months showed preserved fovea and completely attached retina. To the best of the authors' knowledge, this is the first report in the literature treating retinoschisis-related detachment with this minimally invasive technique without subretinal fluid drainage. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:791-794.].


Assuntos
Crioterapia , Tamponamento Interno , Descolamento Retiniano/terapia , Retinosquise/terapia , Hexafluoreto de Enxofre/administração & dosagem , Feminino , Humanos , Pressão Intraocular , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos , Descolamento Retiniano/fisiopatologia , Descolamento Retiniano/cirurgia , Retinosquise/fisiopatologia , Retinosquise/cirurgia , Acuidade Visual/fisiologia
8.
BMC Ophthalmol ; 19(1): 212, 2019 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-31684897

RESUMO

BACKGROUND: To report and describe an unusual case of a patient with optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retinoschisis in the other eye. CASE PRESENTATION: A 21-year-old woman presented with optic disc pit in the right eye and optic disc coloboma with a focal pit like excavation in the left eye. Macular spectral domain optical coherence tomography (SD-OCT) of the left eye revealed macular retinoschisis, without serous detachment. CONCLUSIONS: Proper monitoring of patients with disc anomalies associated with maculopathy is mandatory. The use of OCT imaging during follow-up can help to identify involvement of the fovea or enlargement of the retinoschisis area.


Assuntos
Coloboma/complicações , Angiofluoresceinografia/métodos , Macula Lutea/patologia , Disco Óptico/patologia , Nervo Óptico/anormalidades , Retinosquise/complicações , Tomografia de Coerência Óptica/métodos , Campos Visuais , Coloboma/diagnóstico , Feminino , Fundo de Olho , Humanos , Retinosquise/diagnóstico , Adulto Jovem
9.
Invest Ophthalmol Vis Sci ; 60(14): 4872-4881, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31747688

RESUMO

Purpose: To assess retinal function in young patients with X-linked juvenile retinoschisis (XLRS), a disorder that is known to alter ERG postreceptor retinal components and also possibly photoreceptor components. Methods: ERG responses to full-field stimuli were recorded under scotopic and photopic conditions in 12 XLRS patients aged 1 to 15 (median 8) years. A- and b-wave amplitudes and implicit times were examined over a range of stimulus intensities. Rod and cone photoreceptor (SROD, RROD, SCONE, RCONE) and rod-driven postreceptor (log σ, VMAX) response parameters were calculated from the a- and b-waves. Data from XLRS patients were evaluated for significant change with age. Results: A- and b-wave amplitudes were smaller in XLRS patients compared with controls under both scotopic and photopic conditions. Saturated photoresponse amplitude (RROD), postreceptor b-wave (log σ), and saturated b-wave amplitude (VMAX) were significantly lower in XLRS patients than in controls; SROD did not differ between the two groups. SCONE and RCONE values were normal. In XLRS patients, neither a- and b-wave amplitudes nor calculated parameters (SROD, RROD, log σ, VMAX,SCONE, and RCONE) changed with age. Conclusions: In these young XLRS patients, RROD and a-wave amplitudes were significantly smaller than in controls. Thus, in addition to XLRS causing postreceptor dysfunction, an effect of XLRS on rod photoreceptors cannot be ignored.


Assuntos
Retina/fisiopatologia , Retinosquise/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Visão de Cores/fisiologia , Adaptação à Escuridão , Eletrorretinografia , Feminino , Humanos , Lactente , Masculino , Visão Noturna/fisiologia , Estimulação Luminosa , Células Fotorreceptoras de Vertebrados/fisiologia , Retinosquise/diagnóstico por imagem , Tomografia de Coerência Óptica , Adulto Jovem
11.
BMJ Case Rep ; 12(9)2019 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-31558488

RESUMO

We describe a case of a 23-year-old man with giant macular schisis which can be seen in Goldmann-Favre syndrome. Associated history of decreased night vision and an enhanced S cone electroretinogram helps in confirming the diagnosis. Swept source optical coherence tomography of the same helps in confirming the schisis and delineates the extent and level of schisis. Other differential diagnosis of bilateral macular schisis in a young man could be juvenile X-linked retinoschisis.


Assuntos
Oftalmopatias Hereditárias/complicações , Macula Lutea/patologia , Degeneração Retiniana/complicações , Retinosquise/etiologia , Transtornos da Visão/complicações , Anti-Hipertensivos/uso terapêutico , Diagnóstico Diferencial , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico por imagem , Oftalmopatias Hereditárias/tratamento farmacológico , Humanos , Macula Lutea/diagnóstico por imagem , Macula Lutea/efeitos dos fármacos , Masculino , Cegueira Noturna , Degeneração Retiniana/diagnóstico por imagem , Degeneração Retiniana/tratamento farmacológico , Retinosquise/diagnóstico por imagem , Retinosquise/tratamento farmacológico , Sulfonamidas/uso terapêutico , Tiofenos/uso terapêutico , Tomografia de Coerência Óptica , Transtornos da Visão/diagnóstico por imagem , Transtornos da Visão/tratamento farmacológico , Adulto Jovem
12.
Ophthalmic Surg Lasers Imaging Retina ; 50(8): e196-e202, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31415704

RESUMO

BACKGROUND AND OBJECTIVE: Retinal imaging can help differentiate retinoschisis (RS) from retinal detachment (RD). This study describes new sonographic features of RS using ultrasound biomicroscopy (UBM) and evaluates their diagnostic value. PATIENTS AND METHODS: Medical records of subjects diagnosed with RS and RD who underwent imaging prior to intervention were reviewed. Images were evaluated for detachment shape ultrasound (US) B-mode, as well as presence of intraretinal pillars, retinal layers split, and intraretinal cysts on UBM. RESULTS: Of 48 eyes from 48 patients in the study, 25 were diagnosed as RS and 23 as RD. "Retinal layers split" was the most common UBM finding in the RS group (72%), followed by intraretinal pillars (64%) and intraretinal cysts (36%). No RD case exhibited these findings (P < .001). CONCLUSIONS: UBM might assist in difficult cases to differentiate between RS and RD by detection of the unique sonographic features of RS described herein. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e196-e202.].


Assuntos
Técnicas de Diagnóstico Oftalmológico , Microscopia Acústica , Retinosquise/diagnóstico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Retinosquise/patologia
13.
Ophthalmic Surg Lasers Imaging Retina ; 50(8): e203-e210, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31415705

RESUMO

BACKGROUND AND OBJECTIVE: Knobloch syndrome is a genetic disorder defined by occipital defect, high myopia, and vitreoretinal degeneration. The authors studied retinal changes in patients with Knobloch syndrome using optical coherence tomography (OCT). PATIENTS AND METHODS: The authors report patients with Knobloch syndrome who received OCT testing during their care from 2011 to 2016. Diagnosis was based on high myopia, characteristic fundus, and occipital scalp or skull abnormalities with/without featureless irides and/or ectopia lentis. When available, diagnosis was confirmed by the detection of COL18A1 mutations. RESULTS: The authors studied eight eyes from five patients. Two eyes were excluded due to chronic retinal detachment. OCT findings included epiretinal membrane, peripapillary vitreoretinal traction with retinoschisis, absent or rudimentary foveal pits, mean macular thickness of 113.4 µm, poor lamination, retinal pigment epithelium (RPE) atrophy, photoreceptor depletion, and mean choroidal thickness of 168.5 µm with enlarged choroidal vessels. CONCLUSION: OCT findings in Knobloch syndrome include abnormal vitreoretinal traction, poor foveal differentiation, poor retinal lamination, retinal thinning, RPE attenuation, myopic choroidal thinning, and pachychoroid. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e203-e210.].


Assuntos
Encefalocele/complicações , Membrana Epirretiniana/diagnóstico , Degeneração Retiniana/complicações , Descolamento Retiniano/congênito , Descolamento Retiniano/diagnóstico , Retinosquise/diagnóstico por imagem , Adolescente , Adulto , Criança , Pré-Escolar , Corioide/patologia , Feminino , Humanos , Lactente , Masculino , Descolamento Retiniano/complicações , Epitélio Pigmentado da Retina/patologia , Tomografia de Coerência Óptica , Adulto Jovem
16.
Ophthalmologica ; 242(4): 208-213, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31315117

RESUMO

PURPOSE: To evaluate the effect of pars plana vitrectomy (PPV) and internal limiting membrane (ILM) peeling for lamellar macular hole (LMH) with or without macular retinoschisis in highly myopic eyes. METHODS: In this retrospective, consecutive case-control study, 21 highly myopic patients (22 eyes) with LMH were divided into two groups based on preoperative optical coherence tomography (OCT): the "flat group" had no macular retinoschisis (n = 10), and the "retinoschisis group" had macular retinoschisis (n = 12). The average follow-up time was 17.2 ± 12.6 months. Outcomes were based on 6-month postoperative best-corrected visual acuity (BCVA), integrity of the ellipsoid zone (EZ), external limiting membrane (ELM), and residual foveal thickness (RFT). RESULTS: The appearance of the macula on OCT was normalized in 19 eyes (86.3%) at the final follow-up visit. Compared to the flat group, the retinoschisis group presented a significantly higher incidence of epiretinal membrane (p = 0.046) and lower refractive error (p = 0.033), shorter axial length (p = 0.0009), better integrity of ELM and EZ (p = 0.005 and p = 0.005, respectively), and better preoperative and postoperative BCVAs (p = 0.015). CONCLUSIONS: PPV is an effective method to achieve a high anatomical success, improve postoperative vision, and prevent foveal thinning in highly myopic eyes with LMH. In these eyes, the presence of retinoschisis strongly indicates the need for vitrectomy.


Assuntos
Membrana Basal/cirurgia , Macula Lutea/patologia , Miopia Degenerativa/complicações , Perfurações Retinianas/cirurgia , Retinosquise/cirurgia , Acuidade Visual , Vitrectomia/métodos , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Miopia Degenerativa/fisiopatologia , Refração Ocular , Perfurações Retinianas/diagnóstico , Perfurações Retinianas/etiologia , Retinosquise/diagnóstico , Retinosquise/etiologia , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Resultado do Tratamento
17.
Ophthalmic Genet ; 40(3): 288-292, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31264930

RESUMO

Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family. Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent comprehensive eye examinations for best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, retinal fluorescein angiography (FA), and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant genes (SureSelect Focused Exome, Agilent) was performed using the Illumina HiSeq 3000 system. Candidate variants were validated and segregated by Sanger sequencing. Results: The affected siblings had bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy, ERG, and FA results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer. Our data analysis pipeline identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs*25). Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome.


Assuntos
Fóvea Central/patologia , Predisposição Genética para Doença , Proteínas de Membrana/genética , Microftalmia/etiologia , Mutação , Retinite Pigmentosa/etiologia , Retinosquise/etiologia , Adulto , Criança , Feminino , Fóvea Central/metabolismo , Humanos , Masculino , Microftalmia/patologia , Fenótipo , Prognóstico , Retinite Pigmentosa/patologia , Retinosquise/patologia , Adulto Jovem
20.
Indian J Ophthalmol ; 67(7): 1226-1229, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31238476

RESUMO

A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family.


Assuntos
DNA/genética , Proteínas do Olho/genética , Glaucoma de Ângulo Fechado/diagnóstico , Mutação , Retinosquise/diagnóstico , Criança , Análise Mutacional de DNA , Proteínas do Olho/metabolismo , Testes Genéticos , Glaucoma de Ângulo Fechado/complicações , Glaucoma de Ângulo Fechado/genética , Humanos , Masculino , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Retinosquise/complicações , Retinosquise/genética , Tomografia de Coerência Óptica , Acuidade Visual
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