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1.
Ophthalmic Surg Lasers Imaging Retina ; 52(4): 232-235, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-34039189

RESUMO

Presumed solitary circumscribed retinal astrocytic proliferation (pSCRAP) is a rare, benign retinal tumor, typically presenting as a yellow-white, well-defined lesion. It was first qualified as astrocytic, but thanks to the development of optical coherence tomography (OCT), the lesion was identified as a deep glial lesion, as the nerve fiber layer appeared to be spared. Herein, the authors report the case of a 90-year-old man with inferopapillary pSCRAP who benefited from swept-source OCT angiography images. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:232-235.].


Assuntos
Doenças Retinianas , Tomografia de Coerência Óptica , Idoso de 80 Anos ou mais , Astrócitos , Proliferação de Células , Angiofluoresceinografia , Humanos , Masculino
2.
Br J Ophthalmol ; 105(9): 1297-1301, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-30842084

RESUMO

PURPOSE: To evaluate swept source optical coherence tomography angiography (SS-OCTA) in patients treated with hydroxychloroquine (HCQ) for more than 5 years and to compare results with the tests currently recommended for screening of HCQ retinopathy. METHODS: In this controlled pilot study, consecutive patients treated with HCQ for more than 5 years underwent SS-OCTA, SS-OCT B-scan and en-face C-scan, fundus autofluorescence (FAF), 10-2 automated visual field (AVF) testing and multifocal electroretinography (mfERG). On SS-OCTA, evaluation of the retinal superficial capillary plexus, middle capillary plexus, and deep capillary plexus (DCP) and the choriocapillaris (CC) was obtained. RESULTS: We included 10 patients under HCQ treatment (20 eyes, mean age 38.91±11.73 years) and 18 healthy control patients (36 eyes, mean age 38.87±8.6 years). Mean duration of HCQ treatment was 10.0±3.25 (5-15) years and HCQ cumulative dose/body weight was 15.86±5.56 g/kg. The HCQ group showed a reduction of the vessel density in the 1 mm central, in the nasal and temporal subfields of DCP and in the 1 mm central subfield of CC, an increased foveal avascular zone in the three capillary plexuses, a greater frequency of CC flow voids and a reduced foveal choroidal thickness (p<0.05). Best-corrected visual acuity (BCVA), mfERG, SS-OCT B-scan and C-scan, AVF and FAF were normal in 20/20 eyes (100%). CONCLUSIONS: In patients treated with HCQ for more than 5 years, choroidal thinning and flow abnormalities at SS-OCTA in the retinal capillary plexuses and CC may be observed even if BCVA, FAF, mfERG, AVF and SS-OCT are normal.


Assuntos
Angiofluoresceinografia/métodos , Previsões , Hidroxicloroquina/uso terapêutico , Doenças Retinianas/tratamento farmacológico , Vasos Retinianos/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Antirreumáticos , Estudos Transversais , Eletrorretinografia/métodos , Feminino , Seguimentos , Humanos , Macula Lutea/irrigação sanguínea , Macula Lutea/patologia , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos Prospectivos , Doenças Retinianas/diagnóstico , Doenças Retinianas/fisiopatologia , Vasos Retinianos/fisiopatologia , Resultado do Tratamento , Adulto Jovem
3.
Retina ; 40(2): 333-344, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31972804

RESUMO

PURPOSE: To separately evaluate the three retinal capillary plexuses and the choriocapillaris in patients with diabetes mellitus (DM) Type 1 and Type 2, without clinical signs of diabetic retinopathy. METHODS: The study was prospective and cross-sectional. Only patients with age ≤55 years were included. We used a swept-source optical coherence tomography angiography device (Triton; Topcon, Tokyo, Japan) to obtain both quantitative and qualitative analysis of the retinal capillary plexuses (superficial capillary plexus; middle capillary plexus; and deep capillary plexus) and the choriocapillaris. RESULTS: We included 17 patients with DM Type 1 (age 34.52 ± 11.05 years, 29 eyes), 17 patients with DM Type 2 (age 48.76 ± 3.26 years, 32 eyes), and 23 healthy control subjects (age 41.82 ± 8.97 years, 43 eyes). When compared with controls, vessel density in the central 1 mm was reduced in both DM Type 1 and DM Type 2 groups in the superficial capillary plexus (P = 0.05 and P = 0.02, respectively), and in DM Type 2 in the deep capillary plexus (P = 0.03). Foveal avascular zone was increased in the middle capillary plexus and deep capillary plexus of DM Type 2 group compared with controls (P = 0.03 and P = 0.02, respectively). Choriocapillary voids were more frequent in DM Type 1 and DM Type 2 compared with controls (P = 0.003 and P < 0.001, respectively). CONCLUSION: Microvascular modifications are present in the three retinal capillary plexuses and the choriocapillaris in both DM Type 1 and DM Type 2 even in the absence of clinical signs of diabetic retinopathy.


Assuntos
Capilares/diagnóstico por imagem , Corioide/diagnóstico por imagem , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 2/diagnóstico , Angiofluoresceinografia/métodos , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Adolescente , Adulto , Criança , Estudos Transversais , Retinopatia Diabética , Feminino , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos Prospectivos , Pesquisa Qualitativa , Adulto Jovem
4.
Retina ; 40(5): 977-988, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-30789462

RESUMO

PURPOSE: To assess the status of the cone photoreceptors using adaptive optics flood illumination ophthalmoscopy in patients with birdshot chorioretinopathy and to study their relationship with optical coherence tomography (OCT) angiography. METHODS: Seventeen patients with birdshot chorioretinopathy were studied using standard automated perimetry, color vision testing, fluorescein angiography, indocyanine green angiography, spectral domain OCT, enhanced depth imaging OCT, and adaptive optics flood illumination ophthalmoscopy (rtx1, Imagine Eyes, Orsay, France) in a 90 × 90-µm area at 1.5° temporal of the fovea and OCT angiography (Spectralis OCT2, Heidelberg Engineering, Heidelberg, Germany). For adaptive optics flood illumination ophthalmoscopy, spectral domain OCT, and OCT angiography, a control group of 12 healthy patients (12 eyes) matched for age, sex, and refractive error was included. RESULTS: After excluding low-quality adaptive optics flood illumination ophthalmoscopy images, 12 eyes (12 patients, 7 women, mean age 53.5 ± 10.8 years) were analyzed. Best-corrected visual acuity was 0.01 ± 0.03 LogMAR (20/25 Snellen equivalent), and foveal threshold at standard automated perimetry was 35.2 ± 3.0. Cone density at 1.5° of the fovea in the birdshot chorioretinopathy group (11,435.25 ± 4,342.9 cells/mm) was significantly smaller than in the control group (24,594.04 ± 4,764.3 cells/mm, P < 0.001). In the same area, birdshot chorioretinopathy eyes showed disruption of the ellipsoid/interdigitation zone and vascular abnormalities, such as capillary loops (58.3%), increased superficial intercapillary spaces (75%), increased deep intercapillary spaces (58.3%), capillary dilations (58.3%), telangiectatic vessels (66.6%), and absence of choriocapillary flow (58%). Cone density at 1.5° was associated with duration of the disease (Spearman's rho -0.8, P = 0.01), although it was not associated with OCT angiography abnormalities in the same area. CONCLUSION: Birdshot chorioretinopathy can result in a reduction in cone density and development of macular vascular abnormalities even in the presence of preserved visual function.


Assuntos
Coriorretinopatia de Birdshot/diagnóstico , Capilares/patologia , Corioide/diagnóstico por imagem , Fóvea Central/patologia , Células Fotorreceptoras Retinianas Cones/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Oftalmoscopia/métodos , Estudos Prospectivos
5.
Br J Ophthalmol ; 104(8): 1057-1063, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31662311

RESUMO

AIMS: To evaluate the long-term progression of quiescent type 1 choroidal neovascularisation (CNV) associated with age-related macular degeneration (AMD) or with pachychoroid disease. METHODS: All cases of quiescent type 1 CNV with a minimum follow-up of 12 months seen at the Department of Ophthalmology of University Paris Est, Creteil and at the Centre Ophtalmologique de l'Odeon, Paris, between June 2009 and December 2018 were retrospectively reviewed. Optical coherence tomography angiography (OCT-A) of eyes not showing CNV activation during 24 months was evaluated for quantitative analyses of CNV status biomarkers (fractal dimension, lacunarity, vessel density, aspect ratio, CNV area). RESULTS: A total of 67 eyes (65 patients, 43 females, mean age 76.63±9.7 years) with quiescent CNV and a mean follow-up of 49.56±27.3 (12-112) months were included. Of 28 eyes showing activation of quiescent CNV, 12 eyes with pachychoroid-associated CNV showed reduced visual loss (-3.28 ETDRS letters, p=0.7 vs -13.03 ETDRS letters, p=0.02), greater choroidal thinning (-59.5 µm, p=0.03 vs - 16.36 µm, p=0.3) and needed less antivascular endothelial growth factor intravitreal injections (IVI) (0.09 vs 0.21, p=0.01) than 16 eyes with AMD-associated CNV. CNV area was the only OCT-A biomarker to significantly change during 24 months in inactive quiescent CNV (+29.5%, p=0.01, in pachychoroid group and +27.1%, p=0.03, in the AMD group). CONCLUSION: In the long-term follow-up, inactive quiescent CNV showed an increase of CNV area without significant changes of the other OCT-A biomarkers. Quiescent type 1 CNV undergoing activation showed greater response to IVI when associated to pachychoroid.


Assuntos
Neovascularização de Coroide/diagnóstico , Degeneração Macular/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Inibidores da Angiogênese/uso terapêutico , Biomarcadores , Neovascularização de Coroide/tratamento farmacológico , Neovascularização de Coroide/fisiopatologia , Progressão da Doença , Feminino , Angiofluoresceinografia , Seguimentos , Humanos , Injeções Intravítreas , Degeneração Macular/tratamento farmacológico , Degeneração Macular/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologia
6.
Ophthalmologica ; 241(1): 49-55, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29920484

RESUMO

PURPOSE: To evaluate 2-year choroidal changes in eyes with birdshot retinochoroiditis (BRC). METHODS: Thirteen patients (26 eyes) with BRC were prospectively evaluated during a 2-year period with standard automated perimetry (SAP), fluorescein angiography, indocyanine green angiography and optical coherence tomography (Spectralis Heidelberg Retinal Angiograph + optical coherence tomography). Enhanced-depth imaging optical coherence tomography was performed. RESULTS: Eight patients (61%) were females; the patients mean age was 60 ± 4.7 (range 49-66) years. At baseline, best-corrected visual acuity (BCVA) was 0.08 ± 0.2 and foveal sensitivity threshold (FST) at SAP was 34.04 ± 2.6; at 2-year visit, no significant changes were observed (BCVA 0.06 ± 02, p = 0.1 and FST 34.36 ± 2.6, p = 0.1). In all cases, at the 2-year visit, a significant reduction of choroidal thickness was present only at the fovea (p = 0.01). The rate of foveal choroidal thinning was 1.8 ± 1.6 µm per month. When compared to baseline, suprachoroidal fluid (SCF) was more frequent (42.3 vs. 23%; p = 0.002). The amount of foveal choroidal thinning was associated with the presence of SCF at baseline (p = 0.005). CONCLUSION: In patients with BRC, foveal choroidal thinning and increase of SCF at 2-year follow-up can be observed, even in the absence of visual loss.


Assuntos
Coriorretinite/diagnóstico , Corioide/patologia , Angiofluoresceinografia/métodos , Tomografia de Coerência Óptica/métodos , Idoso , Coriorretinopatia de Birdshot , Progressão da Doença , Feminino , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Tempo
7.
Retin Cases Brief Rep ; 12(1): 29-32, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-27579567

RESUMO

BACKGROUND: Posterior polar annular choroidal dystrophy (PPACD) is a rare disease. Patients with PPACD show loss of retinal pigment epithelium and choriocapillaries surrounding the vascular arcades and optic nerve. METHODS: Two patients with PPACD were evaluated with multimodal imaging, including fundus autofluorescence (FAF) and adaptive optics (AO). REPORT OF CASES: One patient (32 year old, one eye) with PPACD was followed up for 3 years. Best-corrected visual acuity (BCVA) was stable at 20/40, whereas a slight enlargement of paravascular atrophy of pigment epithelium was observed at fundus autofluorescence (FAF). Adaptive optics obtained at last examination showed reduced density of foveal cone photoreceptors. The second patient (30 year old, two eyes) with PPACD showed bilateral normal BCVA, associated with reduction in the density of foveal cone photoreceptors. CONCLUSION: At FAF, longitudinal follow-up of PPACD showed progression of the paravascular atrophy of the pigment epithelium. Foveal cone photoreceptors can be reduced even in the presence of preserved visual acuity.


Assuntos
Doenças da Coroide/diagnóstico , Corioide/patologia , Angiofluoresceinografia/métodos , Imagem Multimodal , Células Fotorreceptoras Retinianas Cones/patologia , Tomografia de Coerência Óptica/métodos , Adulto , Seguimentos , Fundo de Olho , Humanos , Masculino , Doenças Raras , Epitélio Pigmentado da Retina/patologia , Acuidade Visual
8.
Ophthalmic Res ; 58(4): 231-241, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28957818

RESUMO

PURPOSE: The hypothesis that oral supplementation of the epilutein/lutein combination could augment the macular pigment optical density (MPOD) in patients with age-related macular degeneration (AMD) was tested. METHODS: In a prospective randomized interventional study, 40 consecutive patients with early-stage AMD were recruited. After a 2-week run-in period, patients were randomly treated with a daily oral administration of 8 mg epilutein and 2 mg lutein (group 1) or 10 mg lutein (group 2) for 2 months. At baseline (BL) and 1-month (M1) and 2-month visits (M2), all patients underwent a complete ophthalmological examination, including measurement of MPOD in a 7° area (Visucam 200; Carl Zeiss Meditec, Milan, Italy). Xanthophylls were quantified in plasma, as well as the HDL, non-HDL, and erythrocyte fractions at each study visit. RESULTS: Twenty-one patients (mean age 69.4 ± 6.7 years, 35 eyes) were included in group 1. Mean MPOD was 0.203 ± 0.02 optical density units (ODU) at BL, and increased to 0.214 ± 0.04 ODU at M1 (p = 0.008) and 0.206 ± 0.03 ODU at M2 (p = 0.04). Sixteen patients (mean age 72.0 ± 6.3 years, 29 eyes) were included in group 2. Mean MPOD was 0.215 ± 0.03 at BL, which reduced to 0.202 ± 0.03 ODU at M1 (p = 0.003) and 0.207 ± 0.02 ODU at M2 (p < 0.001). A rise in the systemic level of total xanthophylls was observed at M1 for both groups. At M2, total xanthophylls were significantly increased only in group 1 and decreased in group 2. CONCLUSION: In patients with early-stage AMD, the administration of lutein in combination with epilutein was associated with an increased MPOD compared to the administration of lutein alone.


Assuntos
Luteína/administração & dosagem , Macula Lutea/patologia , Degeneração Macular Exsudativa/tratamento farmacológico , Administração Oral , Idoso , Suplementos Nutricionais , Relação Dose-Resposta a Droga , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Tempo , Tomografia de Coerência Óptica , Resultado do Tratamento , Acuidade Visual , Degeneração Macular Exsudativa/diagnóstico , Xantofilas/administração & dosagem
9.
Semin Ophthalmol ; 32(3): 358-362, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27077682

RESUMO

PURPOSE: To evaluate the incidence of strabismus in congenital and developmental cataract surgery in patients with a follow-up longer than five years. METHODS: All patients with congenital and developmental cataracts observed from 1996 to 2013 with a follow-up longer than five years were retrospectively included. RESULTS: We included 117 patients (58 females and 59 males, mean age 0.62±0.3 years, 160 eyes) with congenital cataracts and 73 patients (32 females and 41 males, mean age 6.63±0.7 years, 121 eyes) with developmental cataracts. Before cataract surgery, strabismus was present in 88 patients with congenital cataracts (75.2%) and in 30 patients with developmental cataracts (41.1%) (p=0.01). After a follow-up of 9.26±1.3 years (range, 5-14 years), a significantly greater incidence of strabismus was observed after surgery only in patients with unilateral congenital cataracts who underwent cataract removal and primary IOL implantation (p=0.02). Distance BCVA and near BCVA were better after surgery for developmental cataracts (p<0.05). Presence of binocular vision was more frequent after surgery for developmental cataracts (p=0.001). CONCLUSION: Incidence of strabismus and postsurgical onset of strabismus at long-term follow-up was greater in patients with congenital cataracts.


Assuntos
Extração de Catarata/efeitos adversos , Catarata/etiologia , Previsões , Lentes Intraoculares , Refração Ocular , Estrabismo/etiologia , Visão Binocular/fisiologia , Adolescente , Catarata/diagnóstico , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Estrabismo/fisiopatologia
10.
Semin Ophthalmol ; 32(3): 363-370, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27078055

RESUMO

PURPOSE: To study the correlation between right (RE) and left eye (LE) keratometry readings (K) and axial lengths (AL) in a population-based sample of normal subjects. METHODS: In a cross-sectional retrospective study conducted at S. Giuseppe Moscati Hospital, Avellino, Italy, 4516 eyes of 2258 patients with a mean age of 67 ± 16.36 years (range 18-96 years) were included. Partial coherence interferometry data obtained in right (RE) and left (LE) eyes were analyzed and correlated. RESULTS: The average K was 44.01 ± 1.50 diopters (D) (range 39.09-49.89 D) in the RE and 44.04 ± 1.53 D (range 39.63-51.89 D) in the LE (p = 0.0075). 4.5% of the patients (101) presented with differences in the corneal power ≥ 1 D, corresponding to a difference of roughly 1 D in the IOL power. The average AL was 23.89 ± 1.77 mm (range 19.09-35.15 mm) in the RE and 23.84 ± 1.68 mm (range 19.23-35.04 mm) in the LE (p = 0.0018). 19.2% of the patients (433) presented with differences in the AL ≥ 0.4 mm, corresponding to a difference of roughly 1 D in the IOL power. CONCLUSIONS: In calculating the IOL power, we must be aware of these results when we measure the fellow eye to validate the measurements in the first eye. In the case of postcataract refractive error, the outcome could be used for the second eye only when symmetric biometric findings are present.


Assuntos
Anisometropia/diagnóstico , Comprimento Axial do Olho/anatomia & histologia , Biometria/métodos , Lentes Intraoculares , Refração Ocular , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Interferometria , Itália , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Acuidade Visual , Adulto Jovem
11.
Semin Ophthalmol ; 31(3): 261-5, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-25323995

RESUMO

PURPOSE: To evaluate long-term functional outcomes after surgery for congenital and developmental cataracts. METHODS: In this retrospective interventional study, patients with congenital and developmental cataracts observed from 1996 to 2013 were included. Traumatic cataracts and cataracts secondary to other pathologies were excluded from the study. Minimum follow-up for inclusion was five years. RESULTS: We included 117 patients operated on for congenital cataracts (58 females and 59 males, mean age 0.59 ± 0.2 years, 160 eyes) and 73 patients operated on for developmental cataracts (32 females and 41 males, mean age 6.63 ± 0.7 years, 121 eyes). Mean postsurgical follow-up was 9.26 ± 1.3 years (range, 5-14 years). After surgery for developmental cataracts, both distance and near BCVA were greater (p = 0.001), as was the presence of binocular vision (p = 0.001), while incidence of strabismus and myopic shift was lower (p = 0.001 and p = 0.02, respectively). CONCLUSION: Postsurgical data showed better functional outcomes in developmental cataracts when compared to congenital cataracts.


Assuntos
Extração de Catarata , Catarata/congênito , Implante de Lente Intraocular , Afacia Pós-Catarata/fisiopatologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Miopia/fisiopatologia , Pseudofacia/fisiopatologia , Estudos Retrospectivos , Estrabismo/fisiopatologia , Visão Binocular/fisiologia , Acuidade Visual/fisiologia
12.
Semin Ophthalmol ; 31(6): 548-53, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-25751633

RESUMO

PURPOSE: In congenital cataracts, the need for early intervention is well established to prevent visual deprivation and amblyopia. We evaluated patients with unilateral amblyogenic congenital who had undergone simultaneous cataract removal and intraocular lens implantation. METHODS: We retrospectively reviewed all patients operated on between 1990 and 2010 at the Pediatric Eye Department of the University Federico II of Naples (Italy). Minimum follow-up for inclusion was 48 months. RESULTS: 52 patients (28 females, 24 males, mean age at surgery 9.0 ± 4.5 months, range 2-21 months) were included in this retrospective review. Mean follow-up was 100.7 ± 57.0 months (range, 48-270 months). At last visit, mean BCVA in the operated eyes was 0.65 ± 0.4 (range, 0.04-1.3) LogMAR and 40 patients (76.9%) had strabismus. In patients undergoing surgery at an age >12 months, BCVA was significantly lower (0.92 ± 0.4 LogMAR versus 0.60 ± 0.4 LogMAR, p = 0.01), although development of myopic shift was less frequent (61.5% versus 43.5%, p = 0.03). BCVA at last visit was higher in patients with a first stable pseudophakic SE between +1D and +3D (p = 0.02). CONCLUSIONS: Worse final BCVA, despite less frequent development of myopic shift, was observed when surgery was performed after 12 months of age. A hyperopic correction in first stable pseudophakic SE seems advisable.


Assuntos
Catarata/congênito , Implante de Lente Intraocular , Facoemulsificação , Feminino , Seguimentos , Humanos , Lactente , Masculino , Nistagmo Patológico/complicações , Pseudofacia/fisiopatologia , Estudos Retrospectivos , Estrabismo/complicações , Acuidade Visual/fisiologia
13.
Mol Cytogenet ; 8: 18, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25821518

RESUMO

BACKGROUND: Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still missing. Thus, the aim of this study is to realize a detailed clinical and molecular analysis of a family affected by syndromic X-linked hearing loss with intellectual disability. RESULTS: Clinical analyses revealed a very complex phenotype that included inner ear malformations, vestibular problems, choroideremia and hypotonia with a peculiar pattern of phenotypic variability. Genomic analysis revealed, for the first time, the presence of two close interstitial deletions in the Xq21.1-21.3, harboring 11 protein coding, 9 non-coding genes and 19 pseudogenes. Among these, 3 protein coding genes have already been associated with X-linked hearing loss, intellectual disability and choroideremia. CONCLUSIONS: In this study we highlighted the presence of peculiar genotypic and phenotypic details in a family affected by syndromic X-linked hearing loss with intellectual disability. We identified two, previously unreported, Xq21.1-21.3 interstitial deletions. The two rearrangements, containing several genes, segregate with the clinical features, suggesting their role in the pathogenicity. However, not all the observed phenotypic features can be clearly associated with the known genes thus, further study is necessary to determine regions involved.

14.
Mol Vis ; 20: 575-92, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24791142

RESUMO

PURPOSE: To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease. METHODS: In this retrospective observational study performed between January 2007 and December 2012, 21 patients (42 eyes) with Best VMD from eight families with the BEST1 mutation were included. Best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SDOCT) were evaluated at study entry and at last visit. RESULTS: The mean age of patients was 26.3±17.4 years. Seven new missense mutations in BEST1 were identified. Mean follow-up was 41.1±18.5 months. Mean BCVA was 0.34±0.34 LogMAR at study entry and 0.32±0.33 LogMAR at last follow-up visit (p = 0.2). The overall lesion area on FAF increased from 6.62±4.9 mm² to 7.34±6.1 mm² (p = 0.05). At study entry, on SD-OCT, photoreceptor inner segment ellipsoid portion (ellipsoid zone, EZ) was normal in 15 eyes, disrupted in 14 eyes, and absent in 13 eyes. In two eyes, EZ changed from normal to disrupted during follow-up. Three eyes of three patients showing pseudohypopyon lesions at study entry progressed to vitelliruptive lesions at the last follow-up visit. Three eyes of three patients showing vitelliruptive lesion at study entry reverted to pseudohypopyon lesion with overall enlargement of the lesion size. CONCLUSIONS: Multimodal analysis allowed documenting a continuous material accumulation and reabsorption in Best VMD progression. Blue FAF and SD-OCT could represent noninvasive imaging techniques to monitor Best VMD.


Assuntos
Progressão da Doença , Imagem Multimodal , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/patologia , Adolescente , Adulto , Idoso , Criança , Feminino , Fluorescência , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia de Coerência Óptica , Adulto Jovem
15.
J Refract Surg ; 30(2): 116-20, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24763477

RESUMO

PURPOSE: To assess the long-term effectiveness and safety of refractive surgery with LASIK or photorefractive keratectomy (PRK) for treating accommodative esotropia in adults. METHODS: All patients with accommodative esotropia treated with LASIK or PRK until December 2007 and with a minimum follow-up of 5 years were retrospectively included. RESULTS: LASIK was performed on 44 eyes of 22 patients (12 women, 10 men; mean age: 22.7 ± 2.9 years). Mean postoperative follow-up was 62.1 ± 3.2 months. PRK was performed on 16 eyes of 8 patients (4 women, 4 men; mean age: 23.7 ± 1.7 years). Mean postoperative follow-up was 61.3 ± 2.8 months. At the 5-year follow-up, the mean cycloplegic refraction was more hyperopic in the PRK group (0.3 ± 0.8 vs 0.06 ± 0.3 diopters, P = .01). Correction of esotropia to esophoria or orthotropia was present in 21 patients (95.4%) treated with LASIK and in all patients treated with PRK. CONCLUSIONS: Both LASIK and PRK were effective in the long-term reduction of accommodative esotropia.


Assuntos
Acomodação Ocular , Esotropia/cirurgia , Ceratomileuse Assistida por Excimer Laser In Situ , Lasers de Excimer/uso terapêutico , Ceratectomia Fotorrefrativa , Adolescente , Adulto , Feminino , Seguimentos , Humanos , Masculino , Refração Ocular/fisiologia , Resultado do Tratamento , Acuidade Visual/fisiologia , Adulto Jovem
16.
Ophthalmic Res ; 51(1): 32-6, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24158037

RESUMO

PURPOSE: To investigate light sensitivity in eyes presenting with subretinal drusenoid deposits (SDD). METHODS: All consecutive patients with SDD only seen between January 2012 and July 2012 were included. A control group of consecutive age- and sex-matched control subjects presenting at least one eye with early age-related macular degeneration was considered. In all cases best-corrected visual acuity (BCVA), color fundus photography, fundus autofluorescence imaging and spectral-domain-optical coherence tomography with integrated microperimetry were performed. RESULTS: Twenty-one eyes (21 patients, 9 females, 12 males, mean age 69.2 ± 5.3 years, mean BCVA 0.18 ± 0.14 LogMAR) were included in the SDD group. Twenty eyes of 20 patients (13 females, 7 males, mean age 69.1 ± 3.9 years, mean BCVA 0.16 ± 0.15 LogMAR) were included in the control group. In eyes with SDD the choroid was thinner at the subfoveal location, and at 1,500 µm superior, inferior, temporal and nasal to the fovea (p < 0.05). In eyes with SDD, the overall mean light sensitivity in the central macula (4.21 ± 2.46 dB) was significantly reduced when compared to the control group (6.81 ± 2.12 dB, p = 0.001), while stable fixation was present in both groups. Correlation between BCVA and mean light sensitivity in the central 7 × 7 mm square was low in the SDD group (Pearson's rho = 0.4, p = 0.01), while it was good in the control group (Pearson's rho = 0.7, p = 0.001). CONCLUSIONS: Eyes with SDD showed reduced sensitivity despite preserved BCVA. Reduced choroidal thickness could be involved in reduction of light sensitivity.


Assuntos
Drusas Retinianas/fisiopatologia , Transtornos da Visão/fisiopatologia , Campos Visuais/fisiologia , Fatores Etários , Idoso , Análise de Variância , Estudos de Casos e Controles , Feminino , Humanos , Luz , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Acuidade Visual/fisiologia , Testes de Campo Visual/métodos
17.
Ocul Immunol Inflamm ; 22(2): 133-7, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24063263

RESUMO

PURPOSE: To compare primary versus secondary intraocular lens (IOL) implantation after cataract removal in patients with juvenile idiopathic arthritis (JIA). METHODS: Retrospective interventional study. Data were obtained for 40 children (40 eyes) with JIA-associated uveitis operated on for cataract before the age of 16 years between January 1998 and January 2005. RESULTS: Twenty-one patients underwent primary IOL implantation at a mean age of 13.1 ± 2.6 (9-16) years. Mean follow-up was 48.2 ± 5.4 (35-64) months. Nineteen patients underwent cataract removal at a mean age 12.3 ± 2.0 (9-16) years and secondary IOL implantation 13.6 ± 0.3 (11-16) months later. Mean follow-up was 47.2 ± 6.5 (32-64) months. BCVA difference between the two groups was significant at 24-month visit only (p = 0.001). Incidence of secondary glaucoma was significantly lower in the group that underwent secondary IOL implantation (p = 0.01). CONCLUSION: Secondary IOL implantation after cataract removal in children with JIA-related uveitis provided a significantly lower incidence of secondary glaucoma.


Assuntos
Artrite Juvenil/complicações , Extração de Catarata/métodos , Catarata/complicações , Implante de Lente Intraocular/métodos , Adolescente , Criança , Seguimentos , Glaucoma/epidemiologia , Glaucoma/etiologia , Humanos , Incidência , Itália/epidemiologia , Complicações Pós-Operatórias , Prognóstico , Estudos Retrospectivos , Fatores de Tempo
18.
Cornea ; 32(9): 1227-31, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23860427

RESUMO

PURPOSE: To apply scanning electron microscopy to impression cytology (IC) to evaluate conjunctival damage in patients undergoing topical glaucoma therapy. METHODS: All patients undergoing glaucoma therapy and without ocular surface disorders between September 2012 and January 2013 were enrolled. An age- and gender-matched group without glaucoma served as the control group. Conjunctival epithelium was evaluated with the ferning test (FT), impression cytology with light optic microscopy (ICOM), and impression cytology with scanning electron microscopy (ICSEM). RESULTS: Twenty patients (40 eyes; 11 men and 9 women, mean age 59.9 ± 11 years) constituted the treated group. The mean duration of glaucoma therapy was 25.5 ± 13.8 months (range, 6-48 months). The mean FT, ICOM, and ICSEM grades were 2.52 ± 0.5, 2.52 ± 0.6, and 2.55 ± 0.7, respectively. Treatment duration was not significantly correlated with FT/IC grade (P = 0.1), whereas it was significantly correlated with microvilli count at ICSEM (P = 0.01). The mean FT, ICOM, and ICSEM grades were significantly lower in the control group (40 eyes; 11 men and 9 women, mean age 61.1 ± 7.12 years) than in the treated group (1.22 ± 0.4, 1.25 ± 0.4 and 1.15 ± 0.3, respectively, P < 0.001). CONCLUSIONS: The FT, ICOM, and ICSEM grades were lower in eyes undergoing glaucoma therapy than in control eyes. Treatment duration was significantly associated with a reduced microvilli count at ICSEM, but not with FT or ICOM grades. Reduction of microvilli could be the first sign of cellular damage during chronic glaucoma therapy.


Assuntos
Anti-Hipertensivos/efeitos adversos , Túnica Conjuntiva/ultraestrutura , Doenças da Túnica Conjuntiva/diagnóstico , Epitélio/ultraestrutura , Glaucoma de Ângulo Aberto/tratamento farmacológico , Contagem de Células , Túnica Conjuntiva/efeitos dos fármacos , Doenças da Túnica Conjuntiva/induzido quimicamente , Quimioterapia Combinada , Epitélio/efeitos dos fármacos , Feminino , Células Caliciformes/patologia , Humanos , Pressão Intraocular , Masculino , Microscopia Eletrônica de Varredura , Pessoa de Meia-Idade , Soluções Oftálmicas , Estudos Retrospectivos , Lágrimas/química , Fatores de Tempo
19.
J Ocul Pharmacol Ther ; 29(8): 733-7, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23844756

RESUMO

PURPOSE: To evaluate long-term follow-up of the orally administered combination of flavonoids with Centella asiatica and Melilotus for treatment of diabetic cystoid macular edema (CME) without macular thickening. METHODS: Seventy consecutive patients with type 2 diabetes and CME without macular thickening at optical coherence tomography (OCT) were prospectively and randomly enrolled in two groups of 35 subjects each (treatment and control groups). Patients in the treatment group were treated with an oral combination of diosmin (300 mg/day), with C. asiatica (15 mg/day) and Melilotus (160 mg/day). All patients underwent a complete ophthalmologic examination, OCT (Spectralis HRA-OCT), and central microperimetry (SD-SLO/OCT) at baseline, month 3, month 6, month 12, month 24, and month 36. RESULTS: No differences in HbAc1 percentage, blood pressure, microalbuminuria, visual acuity, mean central retinal thickness, and stability of fixation were present between the two groups during follow up (p>0.05). Retinal sensitivity reduced in the control group only from month 6 until month 36 (p<0.001). In the treatment group, a greater retinal sensitivity was present at month 12, month 24, and month 36 (p=0.001). No side effects of treatment were observed. CONCLUSION: Oral administration of flavonoids, C. asiatica and Melilotus, in patients with CME without macular thickening provided preservation of retinal sensitivity during 36 months of follow up when compared with untreated patients.


Assuntos
Centella/química , Complicações do Diabetes/tratamento farmacológico , Diosmina/uso terapêutico , Edema Macular/tratamento farmacológico , Melilotus/química , Preparações de Plantas/uso terapêutico , Administração Oral , Idoso , Complicações do Diabetes/etiologia , Complicações do Diabetes/fisiopatologia , Diosmina/administração & dosagem , Quimioterapia Combinada , Feminino , Seguimentos , Humanos , Edema Macular/etiologia , Edema Macular/fisiopatologia , Masculino , Pessoa de Meia-Idade , Preparações de Plantas/administração & dosagem , Estudos Prospectivos , Resultado do Tratamento , Acuidade Visual/efeitos dos fármacos
20.
Graefes Arch Clin Exp Ophthalmol ; 251(6): 1601-6, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23446556

RESUMO

PURPOSE: To assess the long-term outcomes and complications of patients with uveitis from juvenile idiopathic arthritis (JIA) treated with adalimumab. METHODS: Prospective interventional case series. All patients who underwent treatment with adalimumab for JIA and anterior uveitis were prospectively included in the study. The anterior chamber inflammation was evaluated according to the Standardization of Uveitis Nomenclature criteria. RESULTS: Twenty-one patients (16 females, five males, 38 eyes) were included in the study. Mean age of patients at referral was 11.1 ± 3.8 (5-17) years. Before initiation of treatment, mean duration of arthritis was 7.0 ± 5.5 (median, 6) months, mean duration of uveitis was 7.0 ± 4.4 (median, 7) months. Oligoarticular arthritis was present in 15 cases (71 %), polyarticular arthritis in six cases (28 %). After a mean follow-up of 18.2 ± 7.7 (9-41) months, resolution of anterior chamber inflammation was obtained in 29/38 eyes (76 %). The anterior uveitis flare rate during the 12 months prior to enrollment was 1.6 ± 0.4/year, and was reduced during adalimumab treatment to 0.7 ± 0.3/year (p<0.001). A significant decrease of the number of relapses/month was present after onset of treatment with adalimumab (0.18 ± 0.2 before versus 0.02 ± 0.1 after treatment onset, p<0.001). No significant correlation was found between relapse number and age, sex, type of JIA and doses of previous steroid treatment (p>0.05). CONCLUSION: Adalimumab showed to be effective and relatively safe for treatment of JIA-associated uveitis.


Assuntos
Anti-Inflamatórios/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Antirreumáticos/uso terapêutico , Artrite Juvenil/tratamento farmacológico , Uveíte Anterior/tratamento farmacológico , Adalimumab , Adolescente , Anti-Inflamatórios/efeitos adversos , Anticorpos Monoclonais Humanizados/efeitos adversos , Antirreumáticos/efeitos adversos , Artrite Juvenil/complicações , Criança , Pré-Escolar , Feminino , Angiofluoresceinografia , Seguimentos , Humanos , Pressão Intraocular , Masculino , Estudos Prospectivos , Tomografia de Coerência Óptica , Resultado do Tratamento , Uveíte Anterior/etiologia , Acuidade Visual
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