Cases reported "Retinitis Pigmentosa"

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1/147. retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report.

    OBJECTIVE: Although the associations of retinitis pigmentosa (RP) with nanophthalmos/microphthalmos and RP with optic disc drusen have previously been recognized, the concurrence of all three features, as far as the authors are aware, has not previously been reported. DESIGN: Case report. RESULTS: The authors report a sporadic case of nanophthalmos, RP, and optic nerve drusen with the additional complication of chronic angle closure glaucoma. CONCLUSIONS: Visual loss may be secondary to the complications of nanophthalmos, RP, or optic nerve drusen. Chronic angle closure may be caused by choroidal effusion with serous retinal detachment, which may, in turn, cause a pseudo-RP picture. It is therefore important to recognize the possible association of true RP with nanophthalmos as a cause for visual deterioration.
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2/147. The transplantation of human fetal neuroretinal cells in advanced retinitis pigmentosa patients: results of a long-term safety study.

    The purpose of this study was to determine the long-term safety of transplanting human fetal neuroretinal cells (14 to 18 week gestational age) into a series of patients with advanced retinitis pigmentosa (RP). After obtaining informed consent, both hosts and mothers of donors were screened for transmissible diseases. Pre- and postoperative clinical exams, visual acuity, electroretinograms, and fluorescein angiograms were performed and visual field testing was attempted in each case. Surgically, an anterior approach through pars plana ciliaris was used. A retinotomy was performed in the paramacular area and a two-function cannula was introduced into the subretinal space to deliver a suspension of donor cells. The cell suspension carried approximately 4000 cells/microl; the volume injected did not exceed 150 microl. The patients were examined for periods ranging from 12 to 40 months posttransplantation. To date, no evidence of inflammation, infection, or overt rejection of the graft was noted in the host eye, neither was any change observed in the contralateral, unoperated eye. In conclusion, neuroretinal cells were injected into the subretinal space of 14 patients with advanced RP with no clinical appearance of detrimental effects at the time of surgery or up to 40 months postinjection except in 1 patient who developed retinal detachment. This sets the stage for a phase II clinical trial to determine the possible beneficial effects of this procedure in patients blinded by degenerative retinal disease.
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3/147. Cone and rod dysfunction in the NARP syndrome.

    AIMS: Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial dna (mtDNA). methods: A mother and her two children, all carrying the 8993 mtDNA mutation, were examined. Two had manifestations of the NARP syndrome. A complete ocular and systemic examination was performed on all three patients. RESULTS: The clinical examination, electroretinogram, and visual fields revealed a typical cone-rod dystrophy in the son, and a typical cone dystrophy in the daughter. The mother had no ocular manifestations of the disease. CONCLUSIONS: NARP is a recently described, maternally inherited mitochondrial syndrome in which a retinal dystrophy, among other abnormalities, is related to a mutation of the mtDNA at nucleotide 8993. This study demonstrates the great variability of the ocular manifestations in the NARP syndrome. It also indicates that the retinal dystrophy in at least some NARP patients affects primarily the cones.
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4/147. 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.
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5/147. Familial occurrence of retinitis punctata albescens and congenital sensorineural deafness.

    PURPOSE: To report the cotransmission of retinitis punctata albescens (RPA) and congenital sensorineural deafness. methods: case reports of two siblings with nyctalopia and profound bilateral sensorineural deafness. RESULTS: The affected siblings, an 11-year-old female and a 7-year-old male, presented with decreased visual acuity and night blindness. In both eyes of both siblings, ophthalmoscopic evaluation disclosed numerous white spots at the level of the retinal pigment epithelium with macular sparing. The rod threshold dark adaptation and electroretinogram tracings were consistent with advanced rod-cone degeneration. CONCLUSION: Two affected members of a family were found to exhibit RPA and congenital sensorineural deafness. This pedigree supports the genetic cotransmission of the traits.
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6/147. Preliminary report: indications of improved visual function after retinal sheet transplantation in retinitis pigmentosa patients.

    PURPOSE: To report indications of new visual function after retinal transplantation in two blind patients with retinitis pigmentosa. methods: Intact sheets of fetal retina (15 and 17 weeks gestational age) were transplanted subretinally (between the neurosensory retina and the retinal pigment epithelium) near the fovea in the left eye of a 23-year-old white man (Patient A) and in the left eye of a 72-year-old white woman (Patient B), both with autosomal-recessive retinitis pigmentosa. RESULTS: Postoperatively, at 6 and 5 months, respectively, both patients reported new visual sensation in the visual field corresponding to the transplant. In both patients, the visual sensation continued to be present after transplantation, at 12 and 8 months, respectively. In Patient A, a transient multifocal electroretinography (mfERG) response was observed in the transplant area 4 months postoperatively but was not detectable in Patient A at 6.0 and 9.5 months post-retinal transplantation. In Patient B, no positive mfERG responses were seen up to 5 months postoperatively. No rejection (presenting as cystoid macular edema, macular pucker, and extensive intraretinal edema with disrupted retinal pigment epithelium) to the transplanted tissue was seen up to 13 months in Patient A and 9 months in Patient B by fluorescein angiography. CONCLUSION: transplantation of intact sheets of fetal human retina in two patients with retinitis pigmentosa was not associated with evidence of transplant rejection. Subjective improvement and an indication of objective improvement 4 months postoperatively were seen in Patient A, and subjective improvement only was seen in Patient B.
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7/147. Molecular analysis of the rhodopsin gene in southern france: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.

    PURPOSE: Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, were shown to be the most common cause of autosomal retinitis pigmentosa (RP). In order to determine the prevalence of rhodopsin alterations in southern French populations, we examined 52 unrelated patients/families with autosomal dominant RP (adRP=29), RP simplex (6), or unclassified RP (17). methods: The full coding and flanking sequences of the rhodopsin (RHO) gene were scanned using an improved DGGE (denaturing gradient gel electrophoresis) assay, followed by sequencing of abnormal fragments. RESULTS: This study revealed three RHO mutations in patients with adRP (G106R, R135W, and c.998999ins4) and a number of frequent or rare polymorphisms. No disease-causing sequence variation was found in simplex and unclassified RP pedigrees. Mutation c.998999ins4 has not been previously reported, and appears as the first duplication identified so far in the RHO gene. This frameshift mutation, which is associated with a severe RP, alters the carboxy terminus and predicts a 353-amino acid mutant rhodopsin instead of 348. DISCUSSION: Our study demonstrates that rhodopsin mutations are responsible for only 10.3% of adRP in French populations living in the Mediterranean area in contrast to the 25-35% reported in other populations.
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8/147. A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.

    PURPOSE: To identify the clinical findings in a Japanese family with X-linked retinitis pigmentosa associated with mutation in codon 253 (Leu253Arg) in the RP2 gene. methods: case reports included clinical features and results of fluorescein angiography, electroretinogram, kinetic visual field testing, and dna analysis. Two affected hemizygotes with retinitis pigmentosa associated with transversion mutations in codon 253 (Leu253Arg) of the RP2 gene and the obligate carriers were examined. RESULTS: A novel Leu253Arg mutation of the RP2 gene was found to cosegregate with retinal degeneration in two affected males and two carriers in female heterozygote in a Japanese family. The ophthalmic findings in hemizygote showed severe retinal degeneration. In the obligate carrier, mild chorioretinal degeneration was observed in both eyes but a tapetal-like reflex of the fundus was not apparent. CONCLUSIONS: The mutation at codon 253 of the RP2 gene is the first mutation reported in a Japanese family. It is concluded that the mutation of the RP2 gene also causes the X-linked retinitis pigmentosa in Japanese patients.
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keywords = visual
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9/147. Retrobulbar optic neuritis and rhegmatogenous retinal detachment in a fourteen-year-old girl with retinitis pigmentosa sine pigmento.

    A 14-year-old girl complained of a sudden decrease in right visual acuity. The patient had night blindness, a mottled retina but no pigments, extinguished scotopic electroretinographic response, central scotoma in the right eye and rhegmatogenous retinal detachment. She had initially received laser photocoagulation around the retinal tear and then corticosteroid therapy, cryoretinopexy and segmental buckling. Her right visual acuity increased to 1.0. The association of retinitis pigmentosa sine pigmento, retrobulbar optic neuritis and rhegmatogenous retinal detachment, as demonstrated in our patient, may be uncommon.
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10/147. Atypical retinitis pigmentosa masquerading as a nerve fiber bundle lesion.

    "Sector" or "asymmetric" retinitis pigmentosa was mistaken as bilateral nerve fiber bundle defects in a 56-year-old man for six years, leading to an unnecessary work-up for anterior visual pathway disease and to an incorrect diagnosis of low-tension glaucoma. confusion arises because this variant may present with bilateral, superior, half-ring visual field defects that intersect the blindspots. These defects may be misplotted as typical arcuate Bjerrum's scotomas. The ophthalmoscopic changes that correspond to these visual field defects may be so subtle as to be overlooked. fluorescein angiography helps bring out the retinal lesions, and moderately subnormal electroretinographic and dark adaptation studies are definitive.
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