Cases reported "Retinal Degeneration"

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1/29. Clinical features of Goldmann-Favre syndrome.

    A 21-year-old woman complained of progressive loss of visual acuity. She had also had night blindness since she was ten years old. At the eye examination, the vitreous was found to be degenerated in both eyes. The fundus findings were a large retinoschisis in the right macula, edema resembling retinoschisis in the left macula and annular degenerative changes in the midperiphery. ERG and dark adaption were abnormal. This vitreoretinal degeneration was diagnosed as Goldmann-Favre syndrome.
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keywords = retinoschisis
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2/29. 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.
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ranking = 3
keywords = retinoschisis
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3/29. Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.

    BACKGROUND AND PURPOSE: X-linked juvenile retinoschisis (RS) provides a starting point to define clinical paradigms and understand the limitations of diagnostic molecular testing. The RS phenotype is specific, but the broad severity range is clinically confusing. Molecular diagnostic testing obviates unnecessary examinations for boys at-risk and identifies carrier females who otherwise show no clinical signs. methods: The XLRS1 gene has 6 exons of 26-196 base-pair size. Each exon is amplified by a single polymerase chain reaction and then sequenced, starting with exons 4 through 6, which contain mutation "hot spots." RESULTS: The 6 XLRS1 exons are sequenced serially. If alterations are found, they are compared with mutations in our > 120 XLRS families and with the > 300 mutations reported worldwide. Point mutations, small deletions, or rearrangements are identified in nearly 90% of males with a clinical diagnosis of RS. XLRS1 has very few sequence polymorphisms. Carrier-state testing produces 1 of 3 results: (1) positive, in which the woman has the same mutation as an affected male relative or known in other RS families; (2) negative, in which she lacks the mutation of her affected male relative; and (3) uninformative, in which no known mutation is identified or no information exists about the familial mutation. CONCLUSIONS: Molecular RS screening is an effective diagnostic tool that complements the clinician's skills for early detection of at-risk males. Useful outcomes of carrier testing depend on several factors: (1) a male relative with a clear clinical diagnosis; (2) a well-defined inheritance pattern; (3) high disease penetrance; (4) size and organization of the gene; and (5) the types of disease-associated mutations. Ethical questions include molecular diagnostic testing of young at-risk females before the age of consent, the impact of this information on the emotional health of the patient and family, and issues of employability and insurance coverage.
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keywords = retinoschisis
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4/29. Optical coherence tomography in the study of the Goldmann-Favre syndrome.

    PURPOSE: To report a case of Goldmann-Favre syndrome with special emphasis on the optical coherence tomography findings. methods: In a 23-year-old white man with an 8-year history of visual impairment in both eyes and night blindness, vertical and horizontal optical coherence tomography images were obtained through the macula and through the retinoschisis located at the temporal side of the macula. RESULTS: Optical coherence tomography showed in the left eye a clear loss of the inner retinal layer at the fovea and the formation of inner and outer retinal layer holes in the temporally located retinoschisis. The outer retinal layer hole had rolled edges. CONCLUSION: In Goldmann-Favre syndrome, optical coherence tomography demonstrated confluent macular cystoid changes and retinoschisis in both eyes. In the left eye, a lamellar macular hole and retinoschisis with inner retinal layer and outer retinal layer holes were observed. The outer retinal layer hole had rolled edges.
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5/29. Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia.

    Stellate foveal retinoschisis is considered the hallmark of X-linked retinoschisis. We describe the finding of unilateral retinoschisis with stellate foveal appearance in 2 females with myopia who had no evidence of familial disease. Optical coherence tomography (OCT) and fluorescein angiography were obtained in both cases. Neither patient had a family history of low vision, night blindness, or retinal detachment. visual acuity in the affected eyes was 20/50 and 20/25, respectively. Both fellow eyes had normal fundi, except for mild myopic changes. With OCT, widespread retinal splitting was detected at the posterior pole in the affected eyes, whereas the fellow eyes were normal. In one case, OCT showed that foveal retinoschisis represented the macular involvement of a flat inferior retinoschisis, although this was not clinically apparent. Macular retinoschisis with stellate foveal appearance may rarely be associated with pathologic myopia. OCT was useful to establish the true extension of these macular changes.
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6/29. Reattachment of retina and retinoschisis in pit-macular syndrome by surgically-induced vitreous detachment and gas tamponade.

    The origin of the subretinal fluid in pit-macular syndrome is unknown. Using optical coherence tomography, the authors observed that an optic disk pit is not a true pit but a cystic cavity covered with a superficial layer of the optic disk in a patient with retinal detachment and retinoschisis. The cyst was connected to the intraretinal space of the retina, which was split in several layers, or the retinoschisis in the papillomacular area. vitrectomy and gas tamponade were performed to treat the patient. During surgically-induced vitreous detachment, strong vitreoretinal attachment at the disk margin and the fovea was observed. After surgery, the cystic space at the optic disk disappeared and the retinal detachment and retinoschisis reattached. Vitreous traction may play a role to introduce the fluid from the optic cyst to the subretinal space through the superficially split retina.
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7/29. retinal detachment and retinoschisis detected by optical coherence tomography in a myopic eye with a macular hole.

    The authors describe a myopic patient with a full-thickness macular hole that was accompanied by both retinal detachment and retinoschisis. A 51-year-old woman presented with a localized retinal elevation of three disc diameters around the macular hole in a myopic eye. Optical coherence tomography (OCT) showed features of both retinal detachment and retinoschisis. After vitreous surgery and postoperative intraocular gas tamponade, the macular elevation resolved, and separation of the neurosensory retina from the retinal pigment epithelium band disappeared on the OCT images. OCT is a useful tool for examining macular conditions associated with a macular hole in myopic patients.
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ranking = 3
keywords = retinoschisis
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8/29. Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation.

    To characterize the clinical features associated with XLRS1 gene mutations in Japanese patients with X-linked juvenile retinoschisis (xlRS), we evaluated the following data on 14 Japanese males from 13 unrelated families with XLRS1 mutations: age and symptoms at first visit to an ophthalmologist and ophthalmologic findings including visual acuity, refractive errors, fundoscopic appearance, and results of electroretinography (ERG) and electro-oculography (EOG). Each clinical finding was reviewed when the patients were between six and eight years of age. The best-corrected visual acuity in 12 patients (24 eyes) between the ages 6 and 8 years ranged from 1.0 to no light perception. Macular abnormalities were present in all cases. Peripheral retinoschisis was present in 14 of 26 eyes (53.8%). In the 21 eyes for which a single-flash ERG had been recorded, b-wave amplitude was reduced in 17 eyes. The EOG showed a low Arden ratio in three of the 13 eyes in the seven patients evaluated. No clear relationship was observed between the clinical features and the existing mutations. Three of four patients with a visual acuity less than 0.1 had retinal detachment or severe macular lesion that had occurred before the age of four years. Two patients harbored deletions of exon 1 or of the boundary region between exon 3 and intron 3, and one patient harbored R182C in exon 6. The present study shows a heterogeneity of mutations in the XLRS1 gene and phenotypic variations in 14 Japanese patients with xlRS.
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ranking = 3
keywords = retinoschisis
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9/29. 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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keywords = retinoschisis
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10/29. 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.
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keywords = retinoschisis
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