ABSTRACT
ABSTRACT Syphilis is a sexually transmitted infection caused by the spirochete Treponema pallidum. Ocular involvement can occur at any time, and it may affect 10% of patients in the secondary stage, and from 2% to 5% in the tertiary stage. Uveitis is the most common presentation of ocular syphilis, affecting 0.4% to 8% of patients with systemic disease. Chorioretinitis is the most common posterior alteration. We present the case of a 53-year-old male patient, presenting with bilateral low visual acuity and nyctalopia for 3 years. His physical examination revealed decreased pupillary reflex, anterior vitreous cells, physiologic papillae, arteriolar attenuation, reduced foveal reflex, diffuse retinal pigment epithelium atrophy, peripapillary and perivascular punctate pigment accumulation and peripheral chorioretinitis. Full-field electroretinogram was extinct in both eyes. Treponemal syphilis test was positive. Previously diagnosed as retinitis pigmentosa, evolved to blindness, despite proper treatment. Our case shows syphilis as a significant cause of blindness. Atypical presentations of retinitis pigmentosa must warn ophthalmologists to etiologies of pseudoretinitis pigmentosa, such as syphilis.
RESUMO A sífilis é uma infecção sexualmente transmissível causada pela espiroqueta Treponema pallidum. A sífilis ocular pode ocorrer em qualquer estágio da doença, chegando a 10% na forma secundária e a 2% a 5% em sua forma terciária. A uveíte é a manifestação ocular mais comum, ocorrendo em 0,4% a 8% dos pacientes com a doença sistêmica. A coriorretinite é a manifestação mais comum do segmento posterior. Apresentamos o caso de um paciente do sexo masculino, 53 anos, com queixa de baixa acuidade visual e nictalopia há ٣ anos. Seu exame físico revelou lentificação dos reflexos pupilares, celularidade no vítreo anterior, papilas fisiológicas, atenuação arteriolar, redução do reflexo foveal, atrofia difusa do epitélio pigmentar da retina, acúmulo punctato de pigmento em regiões peripapilar e perivascular e coriorretinite periférica. Eletrorretinograma de campo total extinto em ambos os olhos. O teste treponêmico foi positivo. Foi previamente diagnosticado como portador de retinose pigmentar, evoluindo com cegueira, a despeito do tratamento correto instituído. Esse caso mostra a sífilis como importante causadora de cegueira. Casos atípicos de retinose pigmentar devem alertar o oftalmologista para causas de pseudorretinose pigmentar, como a sífilis.
Subject(s)
Humans , Male , Middle Aged , Retinal Diseases/etiology , Syphilis/complications , Retinitis Pigmentosa/etiology , Retinal Diseases/diagnosis , Ceftriaxone/therapeutic use , Syphilis Serodiagnosis/methods , Fluorescein Angiography , Syphilis/diagnosis , Syphilis/drug therapy , Visual Acuity , Uveitis, Posterior/diagnosis , Uveitis, Posterior/etiology , Retinitis Pigmentosa/diagnosis , Blindness/etiology , Tomography, Optical Coherence , Electroretinography , Fundus OculiABSTRACT
Resumo A Síndrome de Bardet-Biedl é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. As principais características são retinopatia pigmentar, obesidade, polidactilia, dificuldades de aprendizado, diversos graus de deficiência intelectual, anomalias renais e hipogonadismo. O objetivo desse trabalho é relatar dois casos de síndrome de Bardet-Biedl em pacientes diagnosticados no Instituto Benjamin Constant e fazer uma revisão literária da síndrome. Revisão de prontuário e pesquisa bibliográfica nas bases de dados do PubMed, SciELO, MEDLINE e LILACS. Atualmente não há tratamento para a Síndrome de Bardet-Biedl, mas o diagnóstico precoce é importante para orientar a gestão da criança através de uma avaliação regular da pressão arterial, peso, estudos de imagiologia renais, exames oftalmológicos e apoio psicológico.
Abstract The Bardet-Biedl Syndrome is a rare autosomal recessive disorder with clinical and genetic heterogeneity. Its main characteristics are pigmentary retinopathy, obesity, polydactyly, learning disabilities, various degrees of intellectual disability, renal anomalies and hypogonadism. The objective of this study is to report two cases of the Bardet-Biedl syndrome in patients diagnosed at the Benjamin Constant Institute and to perform a literary review of the syndrome. Review of medical records and bibliographic research were made from the PubMed, SciELO, MEDLINE and LILACS databases. Currently, treatment for the Bardet-Biedl Syndrome does not exist, but early diagnosis is important to guide the child through a regular assessment of blood pressure, weight, renal imaging studies, eye exams and psychological support.
Subject(s)
Humans , Female , Adolescent , Adult , Retinitis Pigmentosa/etiology , Bardet-Biedl Syndrome/complications , Retinal Dystrophies/etiology , Retina/pathology , Retinitis Pigmentosa/diagnosis , Bardet-Biedl Syndrome/diagnosis , Bardet-Biedl Syndrome/genetics , Tomography, Optical Coherence , Diagnostic Techniques, Ophthalmological , Retinal Dystrophies/diagnosisABSTRACT
Objetivo: describir las reacciones producidas por la ozonoterapia durante la aplicación de la estrategia cubana para pacientes portadores de retinosis pigmentaria. Métodos: se realizó un estudio descriptivo, longitudinal, retrospectivo en 6 414 pacientes portadores de retinosis pigmentaria, atendidos en el Centro Internacional de Retinosis Pigmentaria Camilo Cienfuegos, a quienes se les aplicó ozonoterapia como parte de la estrategia cubana multiterapéutica de control para pacientes portadores de esta enfermedad. En un grupo de pacientes se aplicaron 10 sesiones de autohemoterapia mayor y en otro grupo se administraron 10 sesiones por insuflación rectal. Para la aplicación de la ozonoterapia se utilizó un equipo Ozomed. Los datos estadísticos se analizaron y compararon usando la prueba t de Student. Se consideró p< 0,05 como significación estadística. Resultados: se observaron reacciones adversas en 28 pacientes; de ellos, 5 recibieron ozono por insuflación rectal y 23 por autohemoterapia mayor. Se observaron 4 pacientes con náuseas, 6 con sensación de estómago repleto, 5 con euforia, 1 con fatiga inusual y 1 con sabor metálico bucal. Esto representa el 0,004 por ciento de la muestra estudiada. Conclusión: la ozonoterapia demuestra ser un tratamiento médico muy seguro e inocuo en pacientes con retinosis pigmentaria(AU)
Objective: to describe adverse reactions of ozone therapy after the Cuban strategy for patients with retinitis pigmentosa. Methods: a retrospective, longitudinal and descriptive study was conducted in 6 414 patients with retinitis pigmentosa seen at Camilo Cienfuegos International Center of Retinitis Pigmentosa. They had been treated with ozone therapy as part of the Cuban multi-therapy strategy for management of these patients. A group of patients received ten applications of major autohemotherapy whereas another group was administered 10 ozone sessions through rectal insufflation. The Ozomed machine was the choice for ozone therapy. Student's test was used to analyze and to compare statistical data. Significant statistical index was p< 0,05. Results: twenty eight patients were found to have adverse reactions, 5 of them under rectal insufflation and 23 in the major autohemotherapy group. There were observed 4 patients with nauseas, 6 with stomach bloating, 5 with euphoria, one with unusual fatigue and one with strange metallic taste. This represented 0,004 percent in this sample. Conclusion: the ozone therapy has been found to be an extremely safe medical therapy in patients with retinitis pigmentosa(AU)
Subject(s)
Humans , Autohemotherapy/statistics & numerical data , Drug-Related Side Effects and Adverse Reactions/therapy , Insufflation/statistics & numerical data , Ozone/administration & dosage , Retinitis Pigmentosa/diagnosis , Epidemiology, Descriptive , Longitudinal Studies , Retrospective StudiesABSTRACT
Objetivo: describir los efectos sobre los vasos coroideos generados por la primera aplicación del tratamiento multiterapéutico cubano en pacientes con retinosis pigmentaria. Métodos: se realizó una investigación descriptiva longitudinal prospectiva, donde se seleccionaron 32 pacientes con retinosis pigmentaria, a quienes se les aplicó el tratamiento multiterapéutico cubano para esta enfermedad. Se utilizó un video angiógrafo de Heidelberg tipo 2 para realizar oftalmoscopia confocal por barrido láser infrarrojo, para adquirir y procesar imágenes de la capa media de vasos coroideos antes del tratamiento, 15 días y un año después de realizar este. El análisis de los resultados se realizó mediante Statistica 6.0 y SPSS 15.0 sobre Windows. Resultados: se observaron aumentos significativos de los diámetros vasculares en los cuadrantes temporales inferiores. En los temporales superiores hubo disminución no significativa; en los nasales inferiores se observaron aumentos significativos, y en los nasales superiores disminución significativa. Conclusión: después de aplicar el tratamiento multiterapéutico cubano para la retinosis pigmentaria, aumentan de forma duradera los diámetros de los vasos coroideos de la capa media solamente en el cuadrante temporal inferior(AU)
Objective: to describe the effects on the choroidal vessels after the first application of the Cuban multi-therapeutic treatment for patients with retinitis pigmentosa. Methods: a prospective, longitudinal and descriptive study of 32 patients with retinitis pigmentosa, who had undergone the Cuban multi-therapeutic treatment for this disease. There was used Heidelberg Retinal Angiograph- 2 to perform infrared laser scanning confocal ophthalmoscopy in order to take and to process images from the medial layer of the choroidal vessels before, 15 days, and one year after treatment. The results were analyzed with Statistica 6.0 and SPSS 15.0 on Windows. Results: significant increases in vascular diameters of the lower temporal quadrants were observed whereas non-significant decrease occurred in the upper temporal quadrants. Additionally, the choroidal vascular diameters increased significantly in the lower nasal quadrants and decreased in a significant way in the upper nasal ones. Conclusions: the Cuban multi-therapeutic treatment for retinitis pigmentosa increases the diameter of choroidal vascular vessels in a permanent way just in the lower temporal quadrant(AU)
Subject(s)
Humans , Choroid/drug effects , Microscopy, Confocal/statistics & numerical data , Ophthalmoscopy/adverse effects , Retinitis Pigmentosa/diagnosis , Treatment Outcome , Databases, Pharmaceutical/statistics & numerical data , Epidemiology, Descriptive , Longitudinal Studies , Ozone/adverse effects , Prospective StudiesABSTRACT
A tomografia de coerência óptica (OCT) é um exame não invasivo e de não contato que permite avaliar a retina e o nervo óptico. As imagens da OCT fornecem informações da constituição da retina e sua integridade estrutural in vivo, gerando imagens de alta resolução, que se assemelham à microscopia óptica. Objetivou-se descrever a técnica de tomografia de coerência óptica (OCT) e sua utilização em cães. Foi possível diferenciar claramente as camadas retinianas de cães hígidos e compará-las com as de cães portadores de atrofia progressiva de retina, que apresentaram perda da estratificação e diminuição significativa das camadas. No descolamento de retina (DR) foi possível observar a separação entre a retina neurossensorial e o epitélio pigmentário da retina (EPR), além da presença de exsudatos intrarretinianos. Assim, a OCT mostrou-se eficaz no diagnóstico de retinopatias.
The OCT is a noninvasive and noncontact exam capable to evaluate the retina and optic nerve. The OCT images provide information of the constitution of the retina and its structural integrity in vivo, providing high-resolution images that resemble optical microscopy. The objective of this paper was to describe and document the use of the optical coherence tomography (OCT) in dogs. It was possible differentiate the retinal layers of healthy dogs and compare them with dogs with progressive retinal atrophy which showed altered stratification and significant reduce of the layers. In cases of retinal detachment was observed separation of neurosensory retina from the retinal pigment epithelium, and the presence of intrarretinal exudates. Thus, the OCT was effective in the diagnosis of retinopathy.
Subject(s)
Animals , Dogs , Dogs , Retinal Detachment/veterinary , Retinitis Pigmentosa/veterinary , Tomography, Optical/veterinary , Retinitis Pigmentosa/diagnosisABSTRACT
A retinose pigmentar unilateral é uma doença rara caracterizada pela perda de fotorreceptores e deposição de pigmento na retina sem acometimento do olho contralateral. Apesar de descrita há mais de cem anos sua existência ainda é questionada. Este artigo relata o caso de um paciente com alterações sugestivas de retinose pigmentar unilateral. Os aspectos clínicos e os exames complementares são discutidos.
Unilateral retinitis pigmentosa is a rare disease characterized by loss of photoreceptors and retinal pigment deposition without affecting the contralateral eye. Although described more than one hundred years its existence is still questioned. This article reports a case of a patient with abnormalities suggestive of unilateral retinitis pigmentosa. The clinical and complementary examinations are discussed.
Subject(s)
Humans , Male , Young Adult , Retinitis Pigmentosa/diagnosis , Diagnosis, Differential , Electroretinography , Fluorescein Angiography , Retina/pathology , Retinitis Pigmentosa/physiopathology , Visual Acuity , Visual Field TestsABSTRACT
Purpose: To assess contrast visual acuity (CVA) in patients with retinitis pigmentosa (RP) and compare the result with standard visual acuity (VA), retinal thickness, status of inner segment/outer segment junction, and central visual field. Materials and Methods: Thirty-nine eyes of 39 patients with RP and 39 eyes of 39 healthy individuals were studied. To see the difference in CVA between RP patients and normal controls, only subjects with standard VA of 1.0 (20/20) or better were included. This was a cross-sectional study. CVA in various light conditions was measured with CAT-2000 and was compared between patients and controls. CVA of patients was further analyzed for association with other parameters including foveal retinal thickness, outer nuclear layer thickness, the status of inner segment/outer segment junction measured with optical coherence tomography (OCT), and visual field mean deviation (MD) measured with Humphrey field analyzer 10-2 program. Results: CVA impairment was evident in RP patients compared to controls (P < 0.01, in all measurement conditions). Multivariate analysis showed association of logarithm of the minimum angle of resolution (logMAR) with CVAs in several conditions. None of the OCT measurements was associated with CVA. When patients were divided into three groups based on MD, the most advanced group (MD worse than or equal to –20 dB) showed impairment of mesopic CVA (P < 0.05, under mesopic condition of 100% without glare, with glare, and 25% without glare). Conclusion: CVA impairment was confirmed in RP patients, especially in advanced cases. CVA measured with CAT-2000 may be a useful tool for assessing foveal function in RP patients.
Subject(s)
Contrast Sensitivity , Diagnostic Techniques, Ophthalmological/instrumentation , Humans , Multivariate Analysis , Retinitis Pigmentosa/diagnosis , Tomography, X-Ray Computed , Visual AcuityABSTRACT
A retinose pigmentada constitui um grupo de doenças causadas por alterações genéticas que levam à degeneração progressiva dos fotorreceptores, principalmente bastonetes. Em geral, tem apresentação bilateral. Este estudo é um relato de caso de uma paciente com acometimento unilateral da retina, de características semelhantes às da retinose pigmentada, com história de trauma ocular antigo. Descrevem-se sua história clínica e achados oftalmológicos.
Retinitis 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.
Subject(s)
Female , Humans , Middle Aged , Eye Injuries/diagnosis , Retinitis Pigmentosa/diagnosis , Eye Injuries/complications , Fluorescein Angiography , Retina , Retinitis Pigmentosa/etiologyABSTRACT
Se conoce por retinosis pigmentaria al conjunto de anomalías hereditarias, progresivas, que difusa y primariamente afectan los fotorreceptores y el epitelio pigmentario, en la que la visión periférica y nocturna se va perdiendo ocasionando alteraciones oftalmoscópicas en la retina y en la que no se puede demostrar una causa secundaria. Se presenta el caso de un adolescente de 15 años, blanca, femenina, que acude a Consulta de Retina del Centro Oftalmológico de Ciego de Ávila en septiembre 2010 por presentar visión borrosa bilateral que ha sido estudiada en múltiples ocasiones sin diagnóstico confirmado. Se realiza interrogatorio y examen físico ocular completo. Se recoge el dato de un familiar de tercer orden con retinosis pigmentaria y al examen del fondo de ojo se encuentra una membrana celofánica en ambos ojos con distorsión de los finos capilares maculares, reflejo en baba de caracol y alteraciones de epitelio pigmentario en ausencia de pigmentos en la periferia retiniana de ambos ojos. El campo visual mostró un escotoma central y superior bilateral y las pruebas electrofisiológicas señalaron una respuesta de bastones anormal en amplitud, avalando el criterio clínico y electrofisiológico de presentar una retinosis pigmentaria atípica inversa.
Retinitis pimentosa is a set of inherited, progressive anomalies that diffuse and primarily affect the photoreceptors and the pigment epithelium, in which the peripheral and night vision is losing resulting ophtalmoscopic features in the retina and which can not show a secondary cause. It is presented the case of a female, white teenager of fifteen years old sending from hers pediatrician to the Retina specialty in Ciego de Avila Ophthalmology Center in September 2010 complaining of bilateral blurred vision thats been studied several times without any confirmed diagnosis. An interrogation and complete ocular physical examination is carried out. A complete ophthalmic examination was done and a third generation relative affected of retinitis pigmentosa was identified. A fundus examination shows a cellophane membrane with distortion of the thin macular capillary vessels in both eyes, with reflex like snail track degeneration and pigmentary epithelium alterations with no pigments in retinal periphery in each eye. The visual field shows a bilateral central and superior scotoma. The electrophysiological test shows an abnormal amplitude rods response, value the electrophysiological and clinic criteria of inverse retinitis pigmentosa.
Subject(s)
Humans , Female , Adolescent , Retinitis Pigmentosa/diagnosisABSTRACT
Purpose: To compare electroretinogram [ERG] characteristics in patients with retinitis pigmentosa [RP] and normal subjects using frequency domain analysis
Methods: Five basic ERG recordings were performed in normal subjects and patients with a clinical diagnosis of RP according to the ISCEV [International Society of Clinical Electrophysiology of Vision] protocol. Frequency domain analysis was performed by MATLAB software. Different frequency domain parameters were compared between the study groups
Results: Peak frequency [Fmod] of flicker and oscillatory responses in RP patients showed significant [P<0.0001] high pass response as compared to normal controls. Peak frequency [Fmod] of the other responses was not significantly different between the two groups
Conclusion: In addition to conventional ERG using time domain methods, frequency domain analysis may be useful for diagnosis of RP. Oscillatory and flicker responses may be analyzed in frequency domain. Fast Fourier transform may reveal two distinct high pass responses [shift to higher frequencies] in Fmod. Time and frequency domain analyses may be performed simultaneously with many modern ERG machines and may therefore be recommended in RP patients
Subject(s)
Humans , Retinitis Pigmentosa/diagnosis , Eye Diseases/diagnosisABSTRACT
Aims: To determine waveforms of multifocal electroretinogram (mfERG) in patients with retinitis pigmentosa (RP) contributing significantly to the overall retinal response by using principal components’ analysis. Settings and Design: Prospective, non-randomized, single-visit, observational, case-control study from a single tertiary ophthalmic center. Materials and Methods: Patients with various forms of RP underwent mfERG testing for a period of one year. The first-order kernel responses of RP cases were compared with concurrently recruited healthy controls. Statistical Analysis Used: Parametric data was analyzed using the unpaired t test for differences between the implicit time and amplitudes of cases and controls. Principal components’ analysis was done for each implicit time and amplitude in cases with RP using the Varimax rotation method. Results: From March 2006 to March 2007, 24 cases with typical RP (56%, 47 eyes) were included in the final analysis. Their mean age was 33.7 years (19-69 ± 15.5 years). Comparison of latencies and amplitudes among RP cases with log MAR acuity ≤ 0.18 and those > 0.18, revealed significant difference in the implicit time (P1) in Ring 2 only (P=0.028). Two components (predominently from Ring 1 and 2) each contributing 66.8% and 88.8% of the total variance in the data for latencies and amplitudes respectively, were seen. Conclusions: The first two rings of the mfERG contributed to the variance of waveforms in RP, irrespective of the visual acuity and poor visual field results.
Subject(s)
Adult , Aged , Electroretinography/methods , Female , Follow-Up Studies , Humans , Male , Middle Aged , Principal Component Analysis/methods , Prospective Studies , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/physiopathology , Severity of Illness Index , Visual Acuity , Visual Fields , Young AdultABSTRACT
Cistos vítreos são achados raros do segmento posterior ocular. Podem ocorrer em olhos com doenças oculares preexistentes ou em olhos aparentemente normais. Este estudo é um relato de caso de um paciente com retinose pigmentária e cisto vítreo, e descreve sua apresentação clínica e ultrassonográfica.
Vitreous cyst is a rare condition of the posterior segment of the eye. It can occur in eyes with coexistent ocular diseases or in eyes that are otherwise normal. This study reports a case of vitreous cyst in a patient with retinitis pigmentosa and presents its clinical and ultrasonographic features.
Subject(s)
Humans , Male , Middle Aged , Cysts/diagnosis , Retinitis Pigmentosa/diagnosis , Vitreous Body , Cysts/complications , Retinitis Pigmentosa/complications , Visual AcuityABSTRACT
To report a case of Boucher-Neuhauser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced progressive deterioration of his balance and gait disturbance. Then he was referred to our clinic because Boucher-Neuhauser syndrome was suspected. He had no specific family history; his visual acuity was 0.04 in both eyes. We observed broad retinal pigment epithelium atrophy and degeneration in both fundi. Both fluorescein and indocyanine green angiography showed choriocapillaris atrophy in the posterior pole area and midperiphery. Macular optical coherence tomography showed thinning of the neurosensory retina. An electroretinographic examination showed no photopic or scotopic responses. The Boucher-Neuhauser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.
Subject(s)
Adolescent , Humans , Male , Atrophy , Cerebellum/pathology , Coloring Agents , Electroretinography , Fluorescein Angiography , Hypogonadism/diagnosis , Indocyanine Green , Magnetic Resonance Imaging , Photoreceptor Cells, Vertebrate/physiology , Retinal Degeneration/diagnosis , Retinal Pigment Epithelium/pathology , Retinitis Pigmentosa/diagnosis , Spinocerebellar Degenerations/diagnosis , Syndrome , Tomography, Optical CoherenceABSTRACT
A 5-year-old girl was admitted with pallor, hypopigmented sparse hair, tongue ulcers, atrophic nail changes, hypoplastic anemia and bilateral exudative retinopathy. A diagnosis of Revesz syndrome was made. She had the additional features of retinal detachment and retinitis pigmentosa, which are hitherto unreported in this syndrome.
Subject(s)
Bone Marrow Diseases/diagnosis , Child, Preschool , Diagnosis, Differential , Dyskeratosis Congenita/diagnosis , Fatal Outcome , Female , Humans , Intellectual Disability/diagnosis , Retinal Detachment/diagnosis , Retinitis Pigmentosa/diagnosis , SyndromeABSTRACT
Retinitis pigmentosa (RP) is associated with a wide variety of ocular and systemic disorders. The Weill-Marchesani syndrome is a multi-system disorder with microspherophakia as one of the common manifestations. A 14-year-old girl presented with short stature, short and stubby fingers, hypodontia and low-set ears. Slit-lamp examination revealed microspherophakia, with shallow anterior chambers with irido and phacodonesis. Ultrasonographic biomicroscopy confirmed the clinical findings and revealed hypoplastic ciliary body. Electroretinogram confirmed the diagnosis of RP. Though RP has been associated with ectopia lentis in earlier reports, this is, to the best of our knowledge, the first case report describing the association of RP and Weill-Marchesani syndrome.
Subject(s)
Abnormalities, Multiple , Adolescent , Diagnosis, Differential , Dwarfism/diagnosis , Electroretinography , Female , Fingers/abnormalities , Glaucoma, Angle-Closure/diagnosis , Hand Deformities, Congenital/diagnosis , Humans , Lens Subluxation/diagnosis , Microscopy, Acoustic , Myopia/diagnosis , Prognosis , Retinitis Pigmentosa/diagnosis , SyndromeABSTRACT
Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. The eye disease may be congenital amaurosis of Leber type or pigmentary retinal degeneration and electroretinogram (ERG) helps in the diagnosis of these varieties. The disease progresses inexorably to chronic renal failure. Here is a case of twins with Senior-Loken syndrome emphasizing the importance of ophthalmic examination in children with renal failure, for determining a correct diagnosis.
Subject(s)
Age of Onset , Child , Diseases in Twins , Female , Humans , Kidney Diseases, Cystic/diagnosis , Kidney Failure, Chronic/etiology , Nephritis, Hereditary/diagnosis , Nephritis, Interstitial/diagnosis , Retinitis Pigmentosa/diagnosis , SyndromeABSTRACT
OBJETIVO: Investigar a acuidade visual e a função dos bastonetes e correlacioná-las com diferentes parâmetros clínicos freqüentemente observados em pacientes com retinose pigmentária (RP). MÉTODOS: Participaram deste estudo 199 pacientes com retinose pigmentária (110 homens e 89 mulheres), com idades variando entre 6 e 79 anos (média = 36,8±17,5), para avaliação da acuidade visual e da função de bastonetes obtidas pelo eletrorretinograma de campo total (ERG) e limiar de adaptação ao escuro (LAE). A distribuição dos diferentes subtipos genéticos da retinose pigmentária foi de 20,3 por cento autossômica dominante, 14,2 por cento ligada ao X , 24,2 por cento autossômica recessiva e 41,3 por cento isolada. Consangüinidade familiar positiva foi encontrada em 41 (20,6 por cento) pacientes. Com relação à idade, 41 pacientes (20,6 por cento) apresentavam idade inferior a 20 anos, 77 (38,6 por cento) entre 21 - 40 anos, 61 (30,7 por cento) entre 41 - 60 anos, e 20 (10,1 por cento) apresentaram idade superior a 61 anos. A amplitude pico a pico e tempo de culminação da onda-b foram medidos e posteriormente analisados (ANOVA de uma via). A correlação de Pearson foi calculada entre amplitudes de bastonetes e o limiar de adaptação ao escuro e amplitude de bastonetes e acuidade visual. RESULTADOS: Analisando a acuidade visual de acordo com os sub-grupos de retinose pigmentária, sem levar em consideração a idade, obser-vamos que os pacientes com retinose pigmentária autossômica dominante, retinose pigmentária autossômica recessiva e retinose pigmentária isolada têm comprometimento da acuidade visual menor quando comparado a retinose pigmentária ligada ao X. A nictalopia teve início mais precocemente nos pacientes do subtipo retinose pigmentária ligada ao X quando comparada aos restantes (P = 0,0011). Correlação negativa foi obtida entre a perda de função de bastonetes medida pelo eletrorretinograma de campo total e pelo limiar de adaptação ao escuro (coeficiente de correlação de Pearson = - 0,772, P = 0,286, P> 0,050). CONCLUSAO: Neste grupo de pacien-te com retinose pigmentária, 31,2 por cento tiveram acuidade visual de 20/40 ou superior. A perda de função de bastonetes foi altamente correlacionada quando avaliada eletrofisiologicamente pelo eletrorretinograma de campo total e psicofisicamente pelo limiar de adaptação ao escuro. Não houve correlação entre a perda de função de bastonetes medida pelo eletrorretinograma e a acuidade visual.
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Dark Adaptation , Retinal Rod Photoreceptor Cells , Retinitis Pigmentosa/diagnosis , Visual Acuity , Visual Fields , Electrophysiology , Electroretinography/methodsABSTRACT
La retinosis pigmentaria (RP) inversa es una rara degeneración tapetorretiniana que destruye los fotorreceptores del polo posterior del ojos., conduciendo a una importante disminución de la agudeza visual y a escotoma centrales o paracentrales. Como en la forma clásica de RP, los pacientes quejan ceguera nocturna y alteración de la percepción cromática, pero conservan la visión periférica. Desde su descripción en 1876, sólo se han publicado unas pocas docenas de pacientes afectos de RP. Presentamos un nuevo caso correspondiente a un a mujer de 38 años de edad, que no fue remitida a un estadio avanzado de la enfermedad, que no presentaba antecedentes familiares ni se pudo objetivar mutación génica alguna. Se hace hincapié en el diagnóstico diferencial del proceso y se apuntan algunas esperanzadoras terapias experimentales.
Subject(s)
Humans , Adult , Female , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/therapyABSTRACT
O presente estudo teve por objetivo apresentar um caso da Síndrome de Usher tipo II. O diagnóstico foi realizado por meio de avaliaçöes oftalmológica, otorrinolaringológica e fonoaudiológica, e as manifestaçöes foram fundamentais para a classificaçäo da síndrome como tipo II. Os resultados evidenciaram o diagnóstico ressaltando a importância de um trabalho em equipe integrado para o acompanhamento e readaptaçäo social do sujeito, considerando as características progressivas da sintomatologia.