1/45. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous group of progressive retinal degenerations. The disease process is initiated by premature apoptosis of rod photoreceptor cells in the retina, which leads to reduced visual acuity and, eventually, complete blindness. Mutations in the retinitis pigmentosa GTPase regulator ( RPGR ), a ubiquitously expressed gene at the RP3 locus in Xp21.1, account for approximately 20% of all X-linked cases. We have analysed the expression of this gene by northern blot hybridization, cDNA library screening and RT-PCR in various organs from mouse and man. These studies revealed at least 12 alternatively spliced isoforms. Some of the transcripts are tissue specific and contain novel exons, which elongate or truncate the previously reported open reading frame of the mouse and human RPGR gene. One of the newly identified exons is expressed exclusively in the human retina and mouse eye and contains a premature stop codon. The deduced polypeptide lacks 169 amino acids from the C-terminus of the ubiquitously expressed variant, including an isoprenylation site. Moreover, this exon was found to be deleted in a family with XLRP. Our results indicate tissue-dependent regulation of alternative splicing of RPGR in mouse and man. The discovery of a retina-specific transcript may explain why phenotypic abberations in RP3 are confined to the eye.- - - - - - - - - - ranking = 1keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
2/45. blindness from bad bones.Progressive visual loss is the most common neurologic finding in osteopetrosis. Several mechanisms may explain this phenomenon, including compression of the optic nerves caused by bony overgrowth of the optic canals and retinal degeneration. We report a child with osteopetrosis and progressive visual loss, even though patent optic canals were demonstrated by computed tomography and digital holography. This patient's visual loss was caused by increased intracranial pressure secondary, to obstruction of cerebral venous outflow at the jugular foramen. This case points to the importance of a full evaluation of the skull base foramina in the diagnostic workup of visual loss in patients with osteopetrosis.- - - - - - - - - - ranking = 1keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
3/45. Allogenic fetal retinal pigment epithelial cell transplant in a patient with geographic atrophy.PURPOSE: To test the hypothesis that healthy fetal retinal pigment epithelium (RPE) can rescue the remaining viable RPE and choriocapillaries and thereby the photoreceptors in non-neovascular age-related macular degeneration (ARMD) (geographic atrophy [GA]). methods: A 65-year-old legally blind woman with non-neovascular ARMD underwent fetal RPE transplantation. Best-corrected visual acuity testing, detailed fundus examination, fundus photography, fluorescein angiography, scanning laser ophthalmoscope macular perimetry, and humoral and cellular immune response testing were performed. A suspension of RPE was infused into the subretinal space through a retinotomy along the superotemporal arcade at the edge of the area of GA. The patient did not take systemic immunosuppressants. RESULTS: The patient's vision remained unchanged for 5 months after the surgery. fluorescein angiography after transplantation showed leakage and staining at the level of the outer retina. There was progressive subretinal fibrosis in the area of the transplant. Immune response studies showed a weakly positive mixed lymphocyte response against phosducin and rhodopsin. CONCLUSION: Although it is surgically feasible to transplant fetal RPE to the subretinal space of patients with GA, such an allogenic RPE transplant without immunosuppression leads to leakage on fluorescein angiography and eventual fibrosis. A very weak immune response against proteins associated with photoreceptors is also of concern.- - - - - - - - - - ranking = 0.011427744129065keywords = degeneration (Clic here for more details about this article) |
4/45. Sorsby's fundus dystrophy in two Japanese families with unusual clinical features.PURPOSE: To describe two Japanese families with Sorsby's fundus dystrophy (SFD) with unusual clinical features. methods: Two families from Kagoshima Prefecture with senile-onset macular dystrophy were examined. Three affected individuals through three successive generations of one family and three affected siblings in another family were examined and followed. RESULTS: The initial symptom of these patients was a rapid or slow central visual loss that occurred at an average age of 67.4 years. The major ophthalmoscopic changes consisted of soft drusen and hemorrhagic or atrophic lesions in the macula, which were progressive and ultimately led to disciform scarring. They had no difficulty with night vision. All the patients had normal peripheral retina with intact peripheral fields. They maintained good ambulatory vision and could walk unguided until late in life. These patients had a novel mutation in the tissue inhibitor of the metalloproteinases-3 (TIMP3) gene. CONCLUSIONS: This is the first report of SFD from the East. Its clinical features differ from those of SFD patients of the West, appearing closer to features of age-related macular degeneration. These two unrelated Japanese families with an identical mutation in the TIMP3 gene might be descendants of a common ancestor who carried the mutant gene.- - - - - - - - - - ranking = 0.011427744129065keywords = degeneration (Clic here for more details about this article) |
5/45. Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.The association of nephronophthisis and tapeto-retional degeneration was described by both Senior and Loken in 1961, but prior to 1974 only 28 cases had been published. This report describes 8 new cases in 27 members of 5 families. The severe juvenile type produces blindness in infancy and death from renal failure before the age of ten. The adult type is characterized by later onset, slower progression of the renal disease and milder ocular manifestations. The eye disease may be congenital amaurosis of Leber type, pigmentary retinal degeneration or retinitis punctata albescens and the electroretinogram (ERG) is of value in the diagnosis of these varieties of hereditary tapeto-retinal degeneration. Renal involvement is often asymptomatic. Defective urinary concentration leading to polyuria and polydipsia is the earliest sign. proteinuria is inconstant and urinary sediment is often normal. Two patients had aminoaciduria. The disease progresses inexorably to chronic renal failure. One patient has been successfully transplanted and two others are on chronic hemodialysis. Renal histological changes are those of nephronophthisis with tubulointerstitial lesions and multiple cysts. Senior-Loken syndrome appears to be transmitted by a single autosomal recessive pleotropic gene of variable expression. Degeneration of neuroepithelium and renal tubular epithelium, both tissues of ectodermal origin, may represent a genetically determined enzyme abnormality.- - - - - - - - - - ranking = 6.0114277441291keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
6/45. radiation-induced chorioretinal degeneration: a clinicopathological report of three cases.BACKGROUND: With the shift in radiotherapy toward the posterior segment and with the use of lead screens to shield the anterior segment, posterior segment lesions have become more readily recognized. The purpose of this study is to highlight the effects of ionizing radiation on the choroid and to demonstrate how this can result in visual loss, particularly if the macula is involved. methods: Histopathological study of three enucleated eyes of three patients who had received ionizing radiation: a 27-year-old woman who had received radiation as a child for a hemangioma of the left side of the face, a 16-year-old girl who had received radiation at age 11 years for a malignant mesenchymoma of the right maxilla, and a 4-year-old girl who had received radiation at age 1 year for a retinoblastoma of the right eye. RESULTS: Histopathological examination of the three globes showed extensive chorioretinal degeneration, among other ocular findings. In all cases the fellow eye did not show similar chorioretinal lesions. As all three patients were relatively young, the degree of chorioretinal degeneration was considered to be secondary to radiation treatment. INTERPRETATION: Vascular damage from ionizing radiation is not limited to the retina. It can also affect the choroid in the form of chorioretinal degeneration. Since most of the intraocular circulation arises from the uveal vessels, chorioretinal degenerative lesions may be extensive and may even involve the macula.- - - - - - - - - - ranking = 7keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
7/45. Braille alexia during visual hallucination in a blind man with selective calcarine atrophy.The case of a 56-year-old man who has been blind for 25 years due to retinal degeneration is herein described. The patient complained of elementary visual hallucination, during which it was difficult for him to read Braille. brain magnetic resonance imaging showed marked atrophy of the bilateral striate cortex. Visual hallucination as a release phenomenon of the primary visual cortex has never been reported to cause alexia for Braille. The present case supports the results of recent functional imaging studies of the recruitment of striate and prestriate cortex for Braille reading.- - - - - - - - - - ranking = 1keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
8/45. gait rehabilitation in a patient affected with charcot-marie-tooth disease associated with pyramidal and cerebellar features and blindness.Charcot-Marie-Tooth (CMT) disease, an inherited neuropathy characterized by length-dependent degeneration of the motor and sensory nerve fibers with consequent distal muscle atrophy and sensory reduction, can be associated with symptoms and signs of involvement of the central nervous system and/or cranial nerves. We present a patient with relatively severe CMT, cerebellar ataxia, pyramidal involvement, and blindness due to Leber's hereditary optic neuropathy. The patient presented with poor standing and gait, with consequent severe disability. Factors responsible for the patient's functional impairment (plantarflexor failure, footdrop, foot rotation, knee flexor contracture, poor proprioception, cerebellar dysfunction, spastic paraparesis, blindness) were identified and addressed by a rehabilitation management, which included, as a main intervention, ankle stabilization by drop-foot boots instead of ankle-foot orthoses. Improved balance and independent ambulation resulted from rehabilitation.- - - - - - - - - - ranking = 0.011427744129065keywords = degeneration (Clic here for more details about this article) |
9/45. Ischemic papilledema in giant-cell arteritis. Mucopolysaccharide deposition with normal intraocular pressure.A 68-year-old man died 18 days after the onset of ischemic optic neuropathy caused by histologically proven giant-cell arteritis. On histopathologic study of the eye, ischemic necrosis of the prelaminar and retrolaminar optic nerve was seen, along with the massive presence of acid mucopolysaccharides sensitive to testicular hyaluronidase. This finding was interpreted as an intrusion of vitreal material resulting from breaks in the internal limiting membrane and the pressure gradient from intraocular to extraocular tissues, an analogy to Schnabel degeneration in acute glaucoma.- - - - - - - - - - ranking = 0.011427744129065keywords = degeneration (Clic here for more details about this article) |
10/45. Contralateral blindness from chiasmal extension of unsuspected choroidal melanoma.An 80-year-old woman with a prior diagnosis of age-related macular degeneration in her left eye had rapidly progressive visual loss in her right eye. Orbital MRI revealed a mass involving the left optic nerve and chiasm, interpreted by a radiologist as optic nerve sheath meningioma. Further review of the MRI revealed a mass inside the left eye, characteristic of choroidal melanoma, with apparent extension through the optic nerve to the chiasm and adjacent tissues. Orbital biopsy revealed mixed cell-type melanoma. This case demonstrates that unsuspected choroidal melanoma can invade the optic nerve and chiasm, causing contralateral visual loss. Contralateral blindness as the initial complaint from an unsuspected choroidal melanoma is extremely unusual if not unique.- - - - - - - - - - ranking = 0.011427744129065keywords = degeneration (Clic here for more details about this article) |
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