1/50. Histopathological findings of X-linked retinoschisis with neovascular glaucoma.BACKGROUND: X-linked retinoschisis (XLRS) is rarely complicated by neovascular glaucoma. Only a few reports of XLRS histopathological findings with neovascular glaucoma have been published. methods: A 41-year-old man with XLRS complicated by neovascular glaucoma in his left eye was examined with electroretinography, B-scan, ultrasound biomicroscopy and computed tomography. He was examined by ophthalmoscopy and fluorescein angiography in the other eye. An enucleation was performed in his left eye due to uncontrollable high intraocular pressure and persistent ocular pain. We examined the enucleated eye histopathologically. RESULTS: Examination of the enucleated eye showed nuclear sclerosis of the lens, pigmented retrolental membrane and retinoschisis which separated the inner layer of the retina and made a large space in the vitreous cavity without any apparent detachment of the outer layers of the retina. Sclerotic vessels were present histopathologically in both the inner and outer layers of the retina. There was a peripheral anterior synechia, ectropion uveae and a fibrovascular membrane, which contained many lumina of neovascularization, indicating marked rubeosis iridis. Small cystic spaces were observed in both the schitic retina in the peripheral region and the foveal schisis at the outer layer of the retina. The photoreceptor cells had become markedly atrophied and multiple regions of calcification were observed. The optic nerve showed severe atrophy with gliosis, but the central retinal artery and vein were still open within the nerve. CONCLUSIONS: These histopathological findings suggest that rubeosis iridis may have developed secondarily to retinal ischemia due to occlusion of the retinal blood vessels.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
2/50. Hereditary retinal dystrophies and choroidal neovascularization.BACKGROUND: choroidal neovascularization infrequently occurs in patients affected by hereditary retinal dystrophies. methods: We studied eight patients suffering from different hereditary retinal dystrophies (Best's disease, reticular dystrophy, butterfly-shaped dystrophy, gyrate atrophy, and retinitis pigmentosa) who developed choroidal neovascularization. All patients underwent complete ophthalmic evaluation, electrophysiology, colour vision testing, and fluorescein angiography. In some patients, ICG video-angiography was also performed. Laser treatment was carried out in only one patient. RESULTS: The mean duration of follow-up was 41.7 months (range 6-148 months). At CNV diagnosis, the mean VA was 0.23 (range 0.02-0.6). At the last follow-up, mean VA was 0.34 (range HM to 0.9). At the last follow-up, fluorescein angiography showed a focal, atrophic scar in seven eyes, a fibrotic membrane in two eyes and a still active membrane in two cases. CONCLUSION: We emphasize the relatively favourable visual prognosis in patients suffering from inherited retinal dystrophies complicated with choroidal neovascularization. Therapeutic approaches other than laser treatment could be attempted in these patients.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
3/50. Late-onset renal failure in Senior-Loken syndrome.We report on four patients, from three different families, with Senior-Loken syndrome (SLS). They were unusual in that they reached end-stage renal failure (ESRF) only during the fifth or sixth decade. SLS is an autosomal-recessive disorder defined by the association of nephronophthisis and retinal dystrophy. Affected individuals invariably progress to ESRF, usually before the age of 20 years. The diagnosis was based on typical clinical presentation and characteristic renal histology, that is, a picture of chronic interstitial nephritis with pronounced thickening and multilayering of tubular basement membranes. Deterioration of renal function was slow, leading to ESRF between the ages of 42 and 56 years. Retinal dystrophy, already symptomatic during childhood in two patients, led to severe visual impairment in all. In contrast with four cases of SLS recently reported in very young patients, the NPH1 gene (the main gene responsible for nephronophthisis) was not deleted in our two tested patients. We conclude that SLS should be considered in adults who suffer from both chronic interstitial nephropathy and retinal degeneration. Whether the SLS is a variant of nephronophthisis and whether early- and late-onset renal failure in SLS is accounted for by genetic or allelic heterogeneity remain to be determined.- - - - - - - - - - ranking = 0.5keywords = membrane (Clic here for more details about this article) |
4/50. thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy.thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disease in which the active thiamine uptake into cells is disturbed. The molecular basis underlying the disorder has been related to mutations in the gene SLC19A2 on chromosome 1q23.3 that encodes a functional thiamine transporter. The protein is predicted to have 12 transmembrane domains. TRMA is characterized by sensorineural deafness, diabetes mellitus, megaloblastic anemia, and cardiomyopathy. optic nerve atrophy and retinal dystrophy have been reported in a small number of patients. We report a 15-year-old girl with TRMA and cone-rod dystrophy and confirm that retinal dystrophy may form part of the syndrome. Differential diagnosis of syndromes with deafness, diabetes mellitus, and optic nerve atrophy or retinal dystrophy are discussed. The authors suggest that ERG be performed in all patients with TRMA.- - - - - - - - - - ranking = 0.5keywords = membrane (Clic here for more details about this article) |
5/50. Malattia leventinese presenting with subretinal neovascular membrane and hemorrhage.PURPOSE: To report a case of malattia leventinese involving subretinal hemorrhage. methods: Case report. RESULTS: Two weeks after initial presentation, the visual acuity of this 34-year-old man decreased to LE: 20/100. Funduscopic evaluation revealed a subretinal hemorrhage involving the center of the foveal in the left eye that was interpreted as secondary to a neovascular membrane on fluorescein angiography. The patient did well after the removal of the submacular material by pars plana vitrectomy. CONCLUSION: patients with malattia leventinese may occasionally present with submacular hemorrhage. Prompt diagnosis and intervention may enhance the patient's chance for visual improvement.- - - - - - - - - - ranking = 2.5keywords = membrane (Clic here for more details about this article) |
6/50. Senile schisis detachment with posterior outer layer breaks.BACKGROUND: Senile retinoschisis with associated retinal detachment in the presence of multiple or large posterior outer layer breaks is rare. Despite many and significant developments in vitreoretinal surgery for this situation, no definitive therapeutic guidelines exist. In an observational study three different approaches performed by two of the authors are presented. methods: Eighteen eyes of 18 patients with symptomatic schisis detachment and large posterior outer layer breaks were analyzed retrospectively. The fovea was detached in six eyes. Four eyes had laser photocoagulation and/or transscleral cryopexy (Group I), and five eyes had extensive scleral buckling (Group II). In nine eyes primary vitrectomy and gas endotamponade were performed, including inner layer resection in two eyes (Group III). The median follow-up period was 13 months. RESULTS: Initial anatomic success, which was defined as complete reattachment of the outer retinal layer, was achieved in two of four eyes of Group I, in four of five eyes of Group II, and in seven of nine eyes of Group III. Inner layer separation persisted in 11 of 16 eyes. visual acuity improved in 3 of 18 eyes, remained unchanged in 9 of 18 eyes, and worsened in 6 of 18 eyes. Complications included in Group I were persistent outer retinal layer detachment (two eyes); in Group II, proliferative vitreoretinopathy (PVR) detachment (one eye), CME (one eye), diplopia (one eye), late redetachment (one eye); in Group III, secondary rhegmatogenous detachment (one eye) PVR detachment (two eyes), macular pucker (one eye), preexisting CME (two eyes), subretinal perfluorocarbon liquid (one eye), transient central serous detachment (one eye), and nuclear sclerosis (five of eight eyes). CONCLUSION: Photocoagulation alone may be considered a first approach in selected cases of schisis detachment complicated by large posterior outer layer breaks. By use of present surgical techniques, today pars plana vitrectomy is the most rational approach allowing an exact evaluation of the complex retinal architecture, a controlled coagulation, and an adequate tamponade of the involved area. Resection of the inner layer seems to increase the risk for epiretinal membrane formation.- - - - - - - - - - ranking = 0.5keywords = membrane (Clic here for more details about this article) |
7/50. autoantibodies to photoreceptor membrane proteins and outer plexiform layer in patients with cancer-associated retinopathy.Cancer-associated retinopathy (CAR) is a paraneoplastic syndrome that is characterized by degeneration of the retina as a remote effect of cancer outside the eye. The detection of autoantibodies associated with the retinopathy may precede the diagnosis of the underlying cancer. We have examined the sera of two patients with CAR by Western blot analysis. autoantibodies to a 40kD antigen doublet and a 35 kD antigen were detected. Tissue specificity of the autoantigens was determined by testing several different tissues. The 40 kD antigen doublet was most abundant in retinal extract but was also present in lung and spleen extracts. The 35 kD antigen showed little tissue specificity and was present in all tissues tested. Fractionation of retinal proteins into water-soluble and -insoluble proteins revealed that the 40 kD antigen doublet was highly insoluble and probably represented membrane-associated proteins. Immunohistochemical analysis of the retina showed that the 40 kD antigens locate to the photoreceptors while the 35 kD antigen is located in the outer plexiform layer.- - - - - - - - - - ranking = 2.5keywords = membrane (Clic here for more details about this article) |
8/50. Surgical outcome for removal of subfoveal choroidal neovascular membranes in children.OBJECTIVE: To asses the surgical outcome of subfoveal choroidal neovascular membranes in children. methods: Two eyes with Best disease and one with idiopathic subfoveal choroidal neovascular membrane underwent vitrectomy and extraction of the subfoveal neovascular membrane. RESULTS: All the three eyes had significant improvement in their visual acuity and there was no recurrence of choroidal neovascular membrane. CONCLUSION: Surgical removal of subfoveal choroidal neovascular membrane in children carries good visual prognosis in selected cases.- - - - - - - - - - ranking = 4.5keywords = membrane (Clic here for more details about this article) |
9/50. Menkes' kinky hair disease: a light and electron microscopic study of the eye.light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane.- - - - - - - - - - ranking = 0.5keywords = membrane (Clic here for more details about this article) |
10/50. A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement.The authors report a 41-year-old man with a novel form of adult-onset autophagic vacuolar myopathy (AVM) with multiple organ involvement including eyes, heart, liver, lung, kidney, and skeletal muscle. The vacuolar membranes had sarcolemmal features similar to vacuoles in Danon disease, X-linked myopathy with excessive autophagy, and infantile AVM. Lysosome associated membrane protein-2, absent in Danon disease, was present. Defined by distinct clinical features, this disease constitutes the fourth entity in the group of autophagic vacuolar myopathy in which the vacuolar membranes have features of sarcolemma.- - - - - - - - - - ranking = 1.5keywords = membrane (Clic here for more details about this article) |
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