Cases reported "Retinal Diseases"

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1/36. Upward extension of an atrophic tract of the retinal pigment epithelium associated with congenital macular toxoplasmosis.

    PURPOSE: To report an unusual case of gravitational atrophic tract of the retinal pigment epithelium in a 20-year old woman. methods: Case Report. RESULTS: The patient had macular cicatricial congenital toxoplasmic chorioretinitis in both eyes. In the right eye, an atrophic tract of the retinal pigment epithelium originating from the upper margin of the macular scar extended upwards toward the retinal periphery. CONCLUSION: The unusual upward direction of the atrophic tract of retinal pigment epithelium may be explained by the in utero head position during the active phase of the chorioretinal disease.
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ranking = 1
keywords = retinal disease
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2/36. Dark spots in late-phase indocyanine green angiographic studies in a patient with presumed ocular histoplasmosis syndrome.

    PURPOSE: We analyzed indocyanine green (ICG) angiograms in a patient with presumed ocular histoplasmosis syndrome (POHS) complaining about "seeing spots" and decreased visual acuity in order to identify the pathologic process. patients AND methods: A 30-year-old caucasian man with clinical signs of POHS who had previously undergone laser photocoagulation for secondary choroidal neovascularization developed visual disturbances primarily in his temporal visual field. We performed fundus photography, fluorescein angiography and ICG angiography before, during and after the episode of visual disturbance. ICG angiographic findings were correlated to fundus photographs and fluorescein angiograms. RESULTS: Fundus examination, fluorescein angiograms and early-phase ICG angiograms were unremarkable at all time points. However, during the phase of visual disturbance, late-phase ICG angiographic study revealed hypofluorescent lesions in the area representing the visual disturbances. At 1 week follow-up, these hypofluorescent lesions were reduced in size and number; at 6 months follow-up they had completely resolved. CONCLUSIONS: Late-phase ICG angiographic study can provide additional information in inflammatory retinal disease by virtue of identifying areas of choroidal alterations while standard diagnostic examination remain unremarkable.
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ranking = 1
keywords = retinal disease
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3/36. The 22-kDa antigen in optic nerve and retinal diseases.

    OBJECTIVE: patients with unexplained visual loss were evaluated for the possibility of immunologic involvement. Antibody reactions were sought that might identify a common indication of retinal hypersensitivity. methods: The enzyme-linked immunosorbent assay (ELISA) and Western blot analysis were used to identify autoantibody reactions with retina and optic nerve components. Comparisons were made with the autoantibody reaction of normal subjects and patients with recognized forms of retinal decay: macular degeneration, retinitis pigmentosa, diabetic retinopathy, and paraneoplastic retinopathy. RESULTS: Eight patients, one man and seven women, were found to produce an autoantibody reaction with retina and optic nerve, including a novel 22-kDa neuronal antigen present within the retina and optic nerve. One of the eight had retinopathy associated with melanoma (MAR Syndrome). Seven of the eight patients had electroretinogram abnormalities, varying from mild to severe. Six displayed features of optic atrophy. One patient with progressive visual loss had visual function stabilized after immunosuppressive therapy. CONCLUSIONS: In the eight cases described, unexplained visual loss was associated with autoantibody reactions with retina and optic nerve, including a common antibody reaction with a 22-kDa neuronal antigen found in the retina and optic nerve. All the patients had either an abnormal electroretinogram or optic atrophy. Six patients had both. The 22-kDa immunologic marker may not be directly involved in the patient's vision loss, but rather may be related to a nonspecific destruction of retina and optic nerve. However, the marker may be useful in identifying a specific subgroup of patients for further analysis.
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ranking = 4
keywords = retinal disease
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4/36. A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation.

    X-linked retinoschisis (XLRS) is a vitreoretinal disease responsible for most cases of juvenile macular degeneration in males. retinoschisis carrier females generally manifest no pathological symptoms. However, a large affected family from colombia presented three affected females with typical RS phenotype similar to their 27 affected male relatives. Fundus examination as well as electroretinograms (ERG) indicate that the disease in these three affected females is as severe as in their affected male counterparts. dna sequence analysis of the XLRS1 gene in the affected members of this family indicates a single base (G) deletion at the 639 base position (639delG). This deletion causes a frameshift during translation and results in a larger (235 amino acids) than normal peptide (224 amino acids) with grossly altered discoidin domain, which is considered critical for the cellular function of the protein. The co-segregation of this gene mutation with the RS phenotype and the RS carrier status as well as its complete absence in normal controls indicates that this genetic change is responsible for the RS pathology in this family. This (639delG) is a novel RS mutation and reported here for the first time. Furthermore, the analysis of the three affected females indicates that the RS pathology in affected females (a very rare occurrence) is due to XLRS1 mutations carried on both of their X chromosomes.
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ranking = 1
keywords = retinal disease
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5/36. Enhanced visualisation of acute macular neuroretinopathy by spectral imaging.

    PURPOSE: To report photographic findings from a case of acute macular neuroretinopathy. methods: Fundus photography on color transparencies, red-free digital CCD-recording, and laser-scanning ophthalmoscopy with monochromatic red and blue illumination. RESULTS: The visibility of the retinal lesions was markedly enhanced by narrowing the illumination bandwidth and by the stray light suppression of the confocal laser scanning ophthalmoscope. CONCLUSIONS: The diagnosis of acute macular neuroretinopathy, and possibly other chorioretinal diseases as well, can be facilitated by multispectral imaging and stray-light reduction optics.
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ranking = 1
keywords = retinal disease
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6/36. Nystagmus mimicking spasmus nutans as the presenting sign of bardet-biedl syndrome.

    PURPOSE: To investigate the nystagmus of twin brothers presenting with spasmus nutans later diagnosed as bardet-biedl syndrome. methods: The twins presented at the age of 14 months with a presumed diagnosis of spasmus nutans. They were followed clinically and with quantitative electro-oculographic eye movement recordings until the age of 6 years. RESULTS: polydactyly, truncal obesity, mild delay in cognitive development, visual acuity of 20/100, attenuated retinal vessels and pale disks, and bilaterally almost extinguished scotopic and photopic electroretinograms were found in both brothers. They had fine, fast, pendular, disconjugate, intermittent, oblique nystagmus. No head nodding was observed. CONCLUSION: As described in patients with other retinal diseases such as achromatopsia and congenital stationary night blindness, nystagmus of patients with bardet-biedl syndrome can mimic spasmus nutans.
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ranking = 1
keywords = retinal disease
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7/36. Scanning laser entoptic perimetry for the screening of macular and peripheral retinal disease.

    OBJECTIVE: To determine the effectiveness of scanning laser entoptic perimetry as a noninvasive platform for screening for retinal damage in visually asymptomatic patients within the central 120 degrees (diameter) of vision. DESIGN: A masked study comparing entoptic perimetry with fundus photographs. SETTING: The Shiley eye Center and the AIDS Ocular research Unit at the University of california, San Diego. patients: Fifty-eight patients recruited during ophthalmologic visits for treatment or follow-up of ocular disease. MEASUREMENTS: For each testing session, we compared the presence of a disturbance in the entoptic stimulus with the presence of retinal disease within the central 120 degrees of vision, centered on the fovea. RESULTS: Scanning laser entoptic perimetry has a sensitivity and specificity of more than 90%, a positive predictive value of 100%, and a negative predictive value of 89% for screening retinal lesions within the central 120 degrees diameter of vision. CONCLUSION: Scanning laser entoptic perimetry may be an effective and inexpensive screening test for diagnosing retinal disease in hospitals and community clinics. Arch Ophthalmol. 2000;118:1205-1210
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ranking = 6
keywords = retinal disease
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8/36. Multifocal pupillary light response fields in normal subjects and patients with visual field defects.

    The optimal conditions for recording focal pupillary light responses with a multifocal stimulation technique were determined, and the technique was applied to normal subjects and patients with visual field defects. Thirty-seven hexagonal stimuli were presented on a TV monitor with a visual field of 40 degrees diameter under a constant background illumination. Using a slow (4.7 Hz) m-sequence, reliable focal responses were obtained in both normal subjects and patients. The pupillary field and visual field were well correlated in patients with retinal diseases, but the correlation was not strong in patients with optic-nerve diseases. Pupillary light responses were reduced in the blind hemifield in patients with post-geniculate lesions. These results indicate that the multifocal stimulation technique can be used clinically to obtain a pupillary field for objective visual field testing.
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ranking = 1
keywords = retinal disease
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9/36. Enhanced visualization of macular pathology with the use of ultrahigh-resolution optical coherence tomography.

    OBJECTIVES: To demonstrate a new generation of ophthalmic optical coherence tomography (OCT) technology with unprecedented axial resolution for enhanced imaging of intraretinal microstructures and to investigate its clinical feasibility to visualize intraretinal morphology of macular pathology. methods: A clinically viable ultrahigh-resolution ophthalmic OCT system was developed and used in clinical imaging for the first time. Fifty-six eyes of 40 selected patients with different macular diseases including macular hole, macular edema, age-related macular degeneration, central serous chorioretinopathy, epiretinal membranes, and detachment of pigment epithelium and sensory retina were included. OUTCOME MEASURES: Ultrahigh-resolution tomograms visualizing intraretinal morphologic features in different retinal diseases. RESULTS: An axial image resolution of approximately 3 micro m was achieved in the eyes examined, nearly 2 orders of magnitude better than conventional ophthalmic ultrasound. Ultrahigh-resolution OCT images provided additional diagnostically important information on intraretinal morphologic features that could not have been obtained by standard techniques. CONCLUSIONS: Ultrahigh-resolution ophthalmic OCT enables unprecedented visualization of intraretinal morphologic features and therefore has the potential to contribute to a better understanding of ocular pathogenesis, as well as to enhance the sensitivity and specificity for early ophthalmic diagnosis and to monitor the efficacy of therapy. This study establishes a baseline for the interpretation of ultrahigh-resolution ophthalmic OCT imaging of macular diseases.
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ranking = 1
keywords = retinal disease
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10/36. Special report: Noninvasive multi-parameter functional optical imaging of the eye.

    Advancement in the treatment of blindness depends on the development of new technologies that enable early detection, follow-up, and treatment of disease. The authors describe direct, noninvasive imaging of four parameters: blood flow, blood oximetry, metabolic state, and hidden vasculature, particularly capillaries. These are functional parameters of the retina known to be degraded by retinal disease. The new Retinal Function Imager (optical imaging, Ltd., Rehovot, israel) can image all four parameters as intrinsic reflectance intensity differences over the retina's surface. During the past 2 decades, imaging of small optical signals has been a powerful tool for high-resolution functional mapping in the neocortex. In this article, this technology is applied to the retina and demonstrates a general tool for noninvasively probing retinal function in many modalities. Imaging functional changes before anatomic consequences arise holds promise as a powerful tool for early diagnosis and treatment of retinal disease.
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ranking = 2
keywords = retinal disease
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