Navegando por Palavras-chave "Retinitis pigmentosa"
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- ItemAcesso aberto (Open Access)Acuidade visual e eletrorretinografia de campo total em pacientes com síndrome de Usher(Conselho Brasileiro de Oftalmologia, 2005-04-01) Mendieta, Luana [UNIFESP]; Berezovsky, Adriana [UNIFESP]; Salomão, Solange Rios [UNIFESP]; Sacai, Paula Yuri [UNIFESP]; Pereira, Josenilson Martins [UNIFESP]; Fantini, Sérgio Costa [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)PURPOSE: Usher's syndrome (US) is a group of genetically distinct autossomal conditions, characterized by sensorineural hearing loss accompanied by a retinal dystrophy indistinguishable from retinitis pigmentosa (RP). The purpose of this study was to analyze full-field electroretinography (ERG) and visual acuity (VA) among patients with type I and II Usher's syndrome. METHODS: Electroretinography responses and visual acuity were studied in 22 patients (mean age at test = 26.8±16.8 years). Seventeen patients had SU type I and 5 patients were diagnosed as Usher's syndrome type II. RESULTS: Mean visual acuity was 0.9 logMAR (20/160, Snellen equivalent) for patients with Usher's syndrome type I and 0.4 logMAR (20/50, Snellen equivalent) for patients with Usher's syndrome type II. Scotopic rod and maximal responses were non-detectable in both groups. Mean amplitude for oscillatory potentials was 14.5 µV ±6.1 in Usher's syndrome type I and 12.6 µV±5.2 in Usher's syndrome type II. Cone responses were non-detectable in 95% of the patients with Usher's syndrome I and in 100% of patients with Usher's syndrome II. Mean amplitude for 30 Hz flicker photopic cone response was 3.1 µV±4.1 for Usher's syndrome type I and 1.0 µV±0.6 for type II with mean implicit time of 34.0 ms±6.2 (US I) and 35.8 ms±3.1 (type II). CONCLUSIONS: Visual acuity was relatively preserved in both groups, however Usher's syndrome II group showed better visual acuity results. Electroretinography findings were severely reduced in both groups, with most patients showing non-detectable rod and cone responses.
- ItemAcesso aberto (Open Access)Acuidade visual e função de bastonetes em pacientes com retinose pigmentária(Conselho Brasileiro de Oftalmologia, 2004-10-01) Berezovsky, Adriana [UNIFESP]; Pereira, Josenilson Martins [UNIFESP]; Sacai, Paula Yuri [UNIFESP]; Fantini, Sérgio Costa [UNIFESP]; Salomão, Solange Rios [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)PURPOSE: To investigate visual acuity and rod function, and correlate them to different clinical parameters in patients with retinitis pigmentosa (RP). METHODS: A cohort of 199 patients with retinitis pigmentosa (110 males and 89 females), aged 6-79 years (mean = 36.8±17.5) had their monocular visual acuity measured by the ETDRS chart and rod function assessed by full-field electroretinogram and dark-adapted thresholds. The distribution of different genetic subtypes of retinitis pigmentosa was 20.3% autosomal dominant, 14.2% X - linked, 24.2% autosomal recessive and 41.3% isolated. History of consanguinity was found in 41 (20.6%) patients. Forty-one patients (20.6%) were 20 years old or less, 77 (38.6%) ranged from 21 - 40 years, 61 (30.7%) from 41 - 60 years, and 20 (10.1%) were 61 years or older. Peak-to-peak amplitude and b-wave implicit time were measured and statistically analyzed (one-way ANOVA). Pearson correlation was performed between rod amplitude and dark-adapted thereshold and rod amplitude and visual acuity. RESULTS: Analyzing the visual acuity data according to genetic subtypes, without considering age, showed that as a group, patients with autosomal recessive and isolated retinitis pigmentosa have less severe impairment of visual acuity, than those with X-linked retinitis pigmentosa. Nyctalopia begun earlier in X-linked groups, compared with the remaining groups (p=0.011). A negative correlation was found between dark-adapted thereshold and scotopic rod amplitude (Pearson correlation coefficient = - 0.772 and P =0.000). There were no significant relationships between visual acuity and rod response by electroretinogram (Pearson correlation coefficient = 0.0815 and P = 0.286), P > 0.050. CONCLUSIONS: In a cohort of retinitis pigmentosa patients, 31.2% had vision of 20/40 or better. Rod function loss was highly correlated when assessed electrophysiologically (ERG) and psychophysically (dark-adapted thershold). No correlation was found between rod response measured by electroretinogram and visual acuity.
- ItemAcesso aberto (Open Access)Classificação diagnóstica dos portadores de doenças degenerativas de retina, integrantes dos grupos Retina São Paulo e Retina Vale do Paraíba(Conselho Brasileiro de Oftalmologia, 2003-08-01) Unonius, Nichard [UNIFESP]; Farah, Michel Eid [UNIFESP]; Sallum, Juliana Maria Ferraz [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)PURPOSE: To organize a regional data bank of all individuals that have retinal degenerative diseases, with the aim to classify each patient according to the type of distrophy and pattern of inheritance. METHODS: During the meeting of the São Paulo Retina Group on May 5th, 2001, two hundred and forty-three persons were registered, part of whom provided information concerning ocular, personal and family history and family tree. Ninety-three patients were asked about age, origin, type of dystrophy, family history and family tree information, type of inheritance, other systemic abnormalities and complementary examination. They were classified according to the diagnosis and pattern of inhe-ritance. RESULTS: The distrophies found in the registered two hundred and forty-three patients, were: retinitis pigmentosa, Stargardt disease, Usher syndrome, Leber congenital amaurosis and choroideremia. Of the ninety-three patients examined on the same day, sixty-two had retinitis pigmentosa, thirteen had Stargardt disease, thirteen had Usher syndrome, three had Leber congenital amaurosis and two had choroideremia. The inheritance pattern of the patients with retinitis pigmentosa was autosomal dominant in 4 cases (7%), autosomal recessive in twenty cases (32%), X-linked recessive in 7 cases (11%). Twenty-nine cases were isolated (47%) and two had an indeterminate pattern of inheritance (3%). Of the Stargardt disease patients, three (23%) were autosomal recessive and ten (77%) were isolated cases. Of the thirteen patients with Usher syndrome, eight (61.5%) were autosomal recessive, four (31%) were isolated cases and one (7.5%) did not have a determined inheritance pattern. The two patients with choroideremia were X-linked recessive. In Leber congenital amaurosis one (33.5%) was autosomal recessive and two (66.5%) were isolated cases. CONCLUSION: This study highlights the importance of this classification as being the first reference of inheritance patterns of retinal distrophies in our country. This is the first step to further classify the genetic and molecular characteristics based on the sequencing of each gene that causes each inheritance pattern. The frequency of each disease is similar to that of the literature.
- ItemAcesso aberto (Open Access)Contribuição diagnóstica da avaliação eletrofisiológica visual em pacientes atendidos em hospital universitário(Conselho Brasileiro de Oftalmologia, 2003-01-01) Sacai, Paula Yuri [UNIFESP]; Berezovsky, Adriana [UNIFESP]; Fantini, Sérgio Costa; Salomão, Solange Rios [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)PURPOSE: To determine the frequency of diagnostic categories obtained in a clinical vision electrophysiology laboratory at a university hospital. METHODS: Patients who underwent visual electrodiagnostic testing from October 1998 to October 2000 (N=570) were cross-sectionally studied. Electroretinogram (ERG) was performed in 385 (68%) patients and pattern and/or flash visually evoked potentials were performed in 185 (32%) patients. RESULTS: After electroretinogram assessment, the most frequently identified diagnostic categories were (in this order): retinitis pigmentosa, Stargardt's disease, cone dystrophy, cone-rod degeneration, retinotoxic effects due to several agents (chloroquine, tamoxifen, methanol, etc) and ocular trauma, besides unclear visual loss. In 23% of the cases, it was impossible to obtain a final diagnosis on the first examination. The largest group referred to electroretinogram testing was for documentation or exclusion of tapetoretinal degenerations (42%). In this group, 110 cases of RP were identified: 91 isolated and 19 syndromic cases. Visually evoked potential testing helped to identify the following diagnostic categories: diseases affecting only the optic nerve (optic nerve atrophy, optic neuritis, optic disk edema, etc); neurological conditions affecting the visual pathway (multiple sclerosis, cerebral palsy, blunt head trauma, tumors, etc): pediatric eye and/or neurological conditions (congenital cataract, cortical visual impairment, congenital glaucoma, etc) and opaque media (leucoma, ocular trauma, etc). CONCLUSIONS: Frequent and meaningful indications for visual electrophysiologic recording and diagnostic decisions arise from this relatively large group of studied patients. A number of diagnoses can hardly, if not all, be established without visual electrophysiologic testing. These include early stages of retinitis pigmentosa, progressive cone dystrophy, toxic retinopathy without fundus changes, optic nerve or retinal dysfunction in opaque media, optic nerve involvement in multiple sclerosis and pediatric eye disease with or without neurological damage.
- ItemAcesso aberto (Open Access)Correlação entre fenótipo e genótipo de pacientes com doença de Stargardt(Universidade Federal de São Paulo (UNIFESP), 2018-08-30) Salles, Mariana Vallim [UNIFESP]; Sallum, Juliana Maria Ferraz [UNIFESP]; http://lattes.cnpq.br/0856630824759511; Pesquero, João Bosco; http://lattes.cnpq.br/2233267084488852; http://lattes.cnpq.br/6434715002327011; Universidade Federal de São Paulo (UNIFESP)Purpose: To identify genetic variants in Brazilian patients with clinical diagnosis of Stargardt disease and to correlate with its phenotypic manifestation and hereditary characteristics. Methods: Patients with clinical diagnosis of Stargardt disease from retina clinic of UNIFESP were included. Medical records from patients from the Instituto de Genética Ocular, São Paulo – Brazil, were reviewed. The ABCA4, ELOVL4 and PROM1 genes were analyzed by the nextgeneration sequencing (NGS) and complementation with the Sanger sequencing. Results: 52 patients from 47 families were included. In the first phase 24 patients from 21 families from retina clinic of UNIFESP were selected. In the second phase, 254 medical records from Instituto de Genética Ocular were reviewed. Of these, 28 patients from 26 families with pathogenic variants in the ABCA4 and PROM1 genes detected by NGS were selected. No patient had genetic alteration in the ELOVL4 gene. The age of the patients varied from 10 to 66 years and the age of onset of symptoms was on average 14 years of age (ranged from 5 to 40 years of age). A visual acuity ranged from 20/40 to 20 cm at the time of examination. Retinal flecks was found in the retina examination and was associated with macular atrophy. The ABCA4 gene sequencing was conclusive in 41 patients, inconclusive in 8 and negative in 1 case. Two patients have their phenotypic characteristics due to the presence of variants in the PROM1 gene. This study described 5 new pathogenic variants and 3 new complex alleles in the ABCA4 gene. Conclusion: The NGS gene panel was effective to conclude the diagnosis in approximately 80% of the patients. Despite wide genetic and clinic variability, there was concordance in sibling disease expression with the same genotype. The identification of the complex alleles in 14 families (30% of cases) reinforces the importance of the segregation test for the conclusion of the molecular diagnosis related to the ABCA4 gene.
- ItemAcesso aberto (Open Access)Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review(Conselho Brasileiro de Oftalmologia, 2009-10-01) Andrade, Luis Jesuino De Oliveira; Andrade, Rafael [UNIFESP]; França, Caroline Santos; Bittencourt, Alcina Vinhaes; Universidade Estadual de Santa Cruz Faculdade de Medicina; Universidade Federal de São Paulo (UNIFESP); Universidade Federal da Bahia Hospital Universitário Prof. Edgard Santos Serviço de Oftalmologia; UFBABardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.
- ItemAcesso aberto (Open Access)Reabilitação visual em pacientes com retinose pigmentária(Conselho Brasileiro de Oftalmologia, 2006-10-01) Castro, Celina Tamaki Monteiro de [UNIFESP]; Berezovsky, Adriana [UNIFESP]; Castro, Danilo Dimas Monteiro De [UNIFESP]; Salomão, Solange Rios [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)PURPOSE: To determine which low-vision aids could be useful to patients with retinitis pigmentosa and also the benefits that the rehabilitation program could provide based on visual acuity and/or daily visual tasks. METHODS: A group of 30 patients with retinitis pigmentosa aged from 7 to 73 years were enrolled in this study. Visual acuity and visual function tests (visual field, full-field electroretinogram) was performed and low-vision aids tested. Information about the use of the remaining vision was obtained. After choosing the best optical or electronic devices and before their prescription, a low-vision training program was carried out. RESULTS: The best corrected visual acuity varied from HM (hand movements) to 20/40 for distance and visual acuity better than 16M to 0.5M for near. 90% of the patients had optical devices prescribed: 13 for near, 9 for distance, 2 electronic devices and 3 filters. Three patients with extremely narrow visual field and very low visual acuity were referred to orientation and mobility. CONCLUSIONS: The low-vision aids were useful for the retinitis pigmentosa patients: telescopes, hand-held magnifiers, stand magnifiers, half-eye base-in prism lenses, electronic devices and illumination control were beneficial to enhance visual acuity and visual efficiency. The prescription of low-vision aids was helpful in daily-life activities and a high level of satisfaction with the implemented visual rehabilitation program was reported.
- ItemAcesso aberto (Open Access)Retinose pigmentada unilateral secundária a trauma: relato de caso(Conselho Brasileiro de Oftalmologia, 2012-06-01) Cestari, Alexandre Tagliari; Sallum, Juliana Maria Ferraz [UNIFESP]; De Conti, Marina Lourenço [UNIFESP]; Tagliari, Thiago Iorio; Barboza, Marcello Novoa Colombo; Fundação Lusíada Faculdade de Ciências Médicas de Santos; Universidade Federal de São Paulo (UNIFESP); Santa Casa de São Paulo Faculdade de Ciências MédicasRetinitis pigmentosa is a group of diseases caused by genetic changes that lead to progressive degeneration of photoreceptors, rods mainly. In general, it has bilateral presentation. This study is a case report of a patient with unilateral involvement of the retina, similar to the characteristics of retinitis pigmentosa, and an old ocular trauma history. It describes her history and ophthalmologic findings.