Cases reported "Retinal Diseases"

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1/33. 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 = juvenile retinoschisis, retinoschisis
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2/33. Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene.

    X-linked juvenile retinoschisis is a form of vitreoretinal dystrophy that is characterized by foveal and peripheral splitting of the retinal nerve fiber layer. Pathognomonic of this disorder is a microcystic radiate appearance in the fovea. We encountered a 10 year-old, mildly retarded, Japanese boy, who exhibited a widely extended macular retinoschisis bilaterally. A break in the inner layer of the left eye mimicked a lamellar macular hole, which is a rare manifestation of the disease. Peripheral retinoschisis was absent. Only a few reports have described marked bilateral macular retinoschisis that involved entire posterior pole, while various other macular findings have been reported. This patient with a severe form of retinoschisis was found to harbor the deletion of 33 base pairs, including the boundary region of exon 3 and intron 3 in the XLRS1 gene.
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ranking = 1.4927158728486
keywords = juvenile retinoschisis, retinoschisis
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3/33. Optical cross-sectional assessment of the macula by retinal thickness analyzer in optic disk pit maculopathy.

    PURPOSE: To assess the morphologic changes in optic disk pit maculopathy. METHOD: Case report. A 45-year-old woman with optic disk pit maculopathy in the left eye was examined with the scanning retinal thickness analyzer before and after vitrectomy with intravitreal gas tamponade. RESULTS: Preoperatively, optical cross-sectional retinal thickness analyzer images clearly demonstrated the extent of retinoschisis and outer layer detachment in the macula. Postoperatively, the retinal thickness analyzer images showed that retinal thickening decreased as the intraretinal fluid in the schisis cavity was absorbed and then gradually decreased further as the outer layer detachment in the fovea resolved. CONCLUSIONS: Scanning retinal thickness analyzer can be used to diagnose and monitor the structural changes of the macula lesion in optic disk pit maculopathy. vitrectomy with gas tamponade may be effective for treating this disease.
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ranking = 0.088260317399489
keywords = retinoschisis
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4/33. Combined hamartoma of the retina and retinal pigment epithelium with full thickness retinal hole and without retinoschisis.

    Combined hamartoma of the retina and retinal pigment epithelium has been described as a rare, benign tumor formed by an overgrowth of several constituents of the retina such as the retinal pigment epithelial cells, vascular elements, and glial components.1 Despite its varied clinical appearance it is important to recognize this tumor as it is known to simulate intraocular malignancies like retinoblastoma and choroidal melanoma.
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ranking = 0.35304126959796
keywords = retinoschisis
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5/33. Coats' disease and congenital retinoschisis in a single eye: a case report and dna analysis.

    The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations.
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ranking = 0.44130158699744
keywords = retinoschisis
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6/33. The incidence of negative ERG in clinical practice.

    INTRODUCTION: A negative electroretinogram (ERG) is one in which there is a selective reduction in amplitude of the b-wave, such that it does not exceed that of the a-wave. The purpose of this study was to determine the incidence and clinical causes of negative ERGs at a tertiary referral centre. In addition, interesting and previously unreported aetiologies are described. patients AND methods: Retrospective review of all ERGs done at Moorfields eye Hospital from November 1995 to December 1998 under ISCEV standard conditions. Many patients had photopic ON- and OFF-response recording in addition to conventional ISCEV Standard ganzfeld ERG. RESULTS: A total of 2,640 ERGs were performed during the study period. 128 cases (4.8%) showed a negative ERG. The causes, where a firm clinical diagnosis was possible, include X-linked juvenile retinoschisis, congenital stationary night blindness, central retinal artery occlusion, birdshot chorioretinopathy and melanoma-associated retinopathy (MAR). Unilateral negative ERG waveforms with normal fundal appearances were seen in 7 patients. Photopic ON- responses could be selectively affected. CONCLUSIONS: The incidence of negative ERGs over a 34-month period presenting to a large tertiary centre was almost 5%. The presence of a negative ERG may be instrumental in demonstrating the site of visual dysfunction, with many cases showing minimal or no fundus abnormality. ON- and OFF-response recording yielded additional information regarding photopic post-receptoral/phototransduction function.
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ranking = 0.22793492065013
keywords = juvenile retinoschisis, retinoschisis
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7/33. Vitreal pathogenic role in optic pit foveolar retinoschisis and central serous retinopathy.

    PURPOSE: To expand on current theories concerning the vitreal-induced mechanism underlying the development of foveolar retinoschisis and macular sensory detachments associated with optic nerve head pits. To propose the notion that vitreal traction may contribute to the pathogenesis of serous detachments in central serous chorioretinopathy (CSC). REPORTS: We describe two patients, one with macular retinoschisis and the other with central serous detachment. The first patient, a 45-year-old Hispanic female, presented with a temporally located optic nerve head pit, foveolar retinoschisis and schisis retinal spaces extending to the surrounding macula and to the disc. The second patient, a 43-year-old Haitian male, developed a central serous retinal detachment OS with decreased visual acuity one day following in-office administration of Apraclonidine (0.5 per cent Iopidine, Alcon) and Dorzolamide-timolol Maleate (Cosopt, Merck) to lower elevated intraocular pressure (IOP). Macular retinal pigment mottling and epiretinal membrane sheen OU had been observed on his initial visit. visual acuity improved within a three-day period with resolution of the serous detachment. CONCLUSION: We suggest that the persistence of Cloquet's canal may permit fluid leakage into the proximal vitreous in cases of congenital optic nerve head pits. Tangential vitreal traction may promote the opening of a fistula at the optic pit and additionally thrust vitreal fluid into the pit and retinal space inducing the formation of schisis spaces, foveolar-schisis and underlying sensory serous detachment. We question whether a reduction in vitreous volume, induced by initial administration of anti-glaucoma medications, may contribute to the development and/or recurrence of central serous choroidopathy in predisposed individuals.
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ranking = 0.61782222179642
keywords = retinoschisis
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8/33. Retinal angioma and juvenile sex-linked retinoschisis.

    A 13-year-old boy presented with juvenile X-linked retinoschisis and in the right fundus a typical retinal angioma situated at the temporal site of the macula. A maternal uncle and a maternal grand uncle were known to be also affected by juvenile retinoschisis. family history was negative for retinal angiomatosis. Extensive internal, neurologic and radiologic examinations did not reveal associated neurologic or visceral involvement in the affected child. The association of a retinal angioma and juvenile X-linked retinoschisis is most probably fortuitous.
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ranking = 0.75781860398295
keywords = juvenile retinoschisis, retinoschisis, x-linked
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9/33. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

    PURPOSE: To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a family with four affected siblings. The membrane-type frizzled-related protein (MFRP) and CEH10 homeodomain-containing homolog (CHX10) genes, previously implicated in autosomal recessive forms of nanophthalmos/microphthalmos, were analyzed as candidate genes for this novel disease. methods: Complete ophthalmologic examinations were performed in four affected siblings and their parents. Ophthalmologic manifestations, fundus photographs, ultrasonographic (US) assessment, electroretinography (ERG), fluorescein retinal angiography (FA), Goldmann kinetic perimetry (GKP), and optical coherence tomography (OCT), as well as mutational status of MFRP and CHX10 genes in genomic dna. RESULTS: In all affected siblings, ophthalmologic examination demonstrated normal horizontal corneal diameters and high hyperopia; funduscopy, ERG, and FA evidenced a progressive retinal dystrophy compatible with retinitis pigmentosa; A- and B-mode ultrasonography revealed decreased axial eye length and optic disc drusen; OCT showed localized macular retinoschisis. MFRP molecular analysis disclosed a one base pair insertion in exon 5 (c.498_499insC) in all affected individuals, a mutation that predicts a truncated protein (P165fsX198). Both parents were heterozygous for this mutation. CONCLUSIONS: A distinct autosomal recessive ophthalmic syndrome characterized by microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is described. We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos. Our data indicate that defects in MFRP could be responsible for syndromic forms of microphthalmos/retinal degeneration and that this gene is necessary for photoreceptor maintenance.
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ranking = 0.088260317399489
keywords = retinoschisis
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10/33. Nasal retinal dragging in X-linked retinoschisis.

    X-linked retinoschisis is a disorder characterized by the presence of foveal schisis and often peripheral splitting of the retina in the nerve fiber layer. The accompanying complications include vitreous hemorrhage and retinal detachment, which can lead to blindness. In this report five patients who presented during infancy or early childhood had nasal retinal dragging.
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ranking = 0.44130158699744
keywords = retinoschisis
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