Cases reported "Retinitis Pigmentosa"

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1/9. 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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2/9. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

    mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration. We screened the human orthologue, MERTK, located at 2q14.1 (ref. 10), in 328 dna samples from individuals with various retinal dystrophies and found three mutations in three individuals with retinitis pigmentosa (RP). Our findings are the first conclusive evidence implicating the RPE phagocytosis pathway in human retinal disease.
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3/9. Multifocal ERG recording with simultaneous fundus monitoring using a confocal scanning laser ophthalmoscope.

    PURPOSE: To assess the general feasibility of recording multifocal electroretinograms (mfERGs) with simultaneous fundus monitoring in a clinical setting. methods: An mfERG system (RETIscan) and a confocal scanning laser ophthalmoscope (Heidelberg Retina Angiograph) were connected to record mfERGs elicited by a pseudorandom binary m-sequence stimulus generated by a 514 nm laser source. Recordings were compared to a conventional mfERG system using monitor stimulation. A total of five subjects (two normal subjects and three patients) were examined. RESULTS: In normal volunteers records obtained by the fundus-monitored mfERG showed highest response densities in the central fundus area and a decrease of response amplitudes towards the periphery paralleling cone receptor density. However, compared to the monitor stimulation, the drop-off of amplitudes as a function of eccentricity was not as clearly defined. The responses obtained from patients with retinal diseases were diminished in the areas of retinal dysfunction. CONCLUSIONS: These preliminary findings indicate that the technique of laser stimulation in principle allows for topographic retinal recording. This method might be useful, for example if the retinal position of the stimulus array is not centred onto the fovea but deviates due to fixation problems. However, further improvement of the technique appears necessary before considering routine clinical application.
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4/9. Photoreceptor rosettes with blue cone opsin immunoreactivity in retinitis pigmentosa.

    Immunocytochemistry has rarely been performed on donor retinas from patients with retinitis pigmentosa (RP), due to routine storage of tissues in fixatives that reduce or destroy antigenicity. The authors have developed a method to circumvent this problem and report light and electron microscopic histopathology and immunocytochemistry of an unusual retina from a 76-year-old man with multiplex RP. The retina shows loss of photoreceptors throughout (particularly rods), shortened foveal cone outer segments, and displaced photoreceptors in rosettes and tubules, an atypical pattern for RP. Antigenicity was recovered in this retina by treatment with sodium borohydride, and 17 antigens normally found in retina are present with expected distribution, although many cells have abnormal morphology. Most cone outer segments are immunoreactive with anti-blue but not anti-red/green cone opsin, whereas blue cone sensitivity is preferentially lost in many cases of RP. Psychophysical testing of the patient's sister, who has the same retinal disease, showed reduced rod and red/green cone sensitivities. This was consistent with the diminished numbers and size of rods and red/green cones found by immunocytochemistry in her brother's retina. The sister did not show blue cone hypersensitivity characteristic of a recently described retinal degeneration known as the "enhanced S cone syndrome."
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5/9. A new syndrome with ocular, skeletal and renal involvement.

    A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.
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6/9. Macular dysplasia and pigmented paravenous retino-choroidal atrophy.

    Pigmented paravenous retino-choroidal atrophy (P P R C A) is a rare retinal disease characterized by bilateral patches of pigment and areas of chorioretinal atrophy distributed along the veins. The authors present a 21-year-old male with pigmented paravenous retinochoroidal atrophy and unilateral macular dysplasia. To their knowledge, this is the second reported case of macular involvement. They believe that such association is not occasional, but may be suggestive of a variable expressivity of the disease.
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7/9. retinal degeneration without pigment alterations in progressive external ophthalmoplegia.

    A 56-year-old black man had annular visual field defects and retinal electrophysiologic dysfunction with chronic progressive external ophthalmoplegia and no pigmentary abnormalities in the fundus. Because the association of retinal disease with neurodegenerative states has generally been based on the observation of pigmentary changes, the patient's fields were erroneously interpreted as the nerve fiber bundle defects of glaucoma.
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8/9. A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa.

    OBJECTIVE: To report the genetic and ophthalmic findings in a black family with X-linked retinitis pigmentosa resulting from a newly identified mutation in the RPGR (retinitis pigmentosa GTPase regulator) gene. patients: Four affected hemizygotes with retinitis pigmentosa and 2 obligate carriers were examined. Two unaffected family members, 1 woman and her unaffected son, were also examined. methods: patients underwent a routine ocular examination including slitlamp examination and a dilated fundus examination. Certain patients also underwent testing with Goldmann visual field kinetic perimetry and electroretinography. dna screening from affected male patients, 2 obligate carriers, and 2 unaffected family members was performed to determine the presence of any mutation in the RPGR gene. RESULTS: A 2-base pair deletion in exon 13 of the RPGR gene that creates a frameshift was found to segregate with the retinal disease in affected males and the carrier state in female heterozygotes in this family. The ophthalmic findings in hemizygotes and carriers were within the spectrum of findings characteristically noted in families with X-linked retinitis pigmentosa. In 2 obligate carriers, a tapetal-like reflex was not clinically apparent. CONCLUSIONS: The described mutation is the first RPGR gene mutation reported in a black family. A 2-base pair deletion in exon 13 segregates with a clinical phenotype of X-linked retinitis pigmentosa.
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9/9. retinitis pigmentosa inversa.

    BACKGROUND: retinitis pigmentosa (RP) is one of the most common inherited retinal diseases, with a prevalence of about 1 in 3500 to 4500. retinitis pigmentosa inversa is a rare variant of this disorder characterized by areas of choroidal degeneration with pigment migration and bony spicule formation in the macular area. In contrast to more typical forms of RP, this anomaly destroys central vision, leaving peripheral vision intact. CASE REPORT: A 47-year-old white male was followed for about 7 years with evidence of progressive retinal pigment epithelial atrophy and hyperpigmentation affecting both maculae. Since 1970, he had noted difficulty seeing at night as well as an acquired hearing deficit that appeared to be getting worse, ultimately impairing his ability to safely drive a truck. Medical history was positive for either chloroquine or hydroxychloroquine use for 2 to 3 years as malaria prophylaxis while he served in vietnam. In addition, his father in louisiana had visual loss of unknown cause. During the 7-year period, the condition progressed rapidly. The patient became virtually blind secondary to visual acuity loss with dense central and paracentral scotomas. The peripheral visual fields remained intact. After several years of extensive examinations, including laboratory, electroretinography, and genetic testing, a definitive diagnosis of RP inversa was made. DISCUSSION: RP inversa is a rare form of tapetoretinal degeneration that is characterized by decreased central vision with normal peripheral vision. A recessive form of inheritance has been postulated but never substantiated. Although there is currently no treatment, recent studies have indicated that 15,000 IU of vitamin a palmitate daily may slow the progression of retinitis pigmentosa; however, it is unknown whether this treatment would be effective for the inverse form of RP. Differential diagnoses include Leber's congenital amaurosis, central gyrate atrophy, central areolar choroidal sclerosis, progressive cone-rod dystrophy, syphilitic retinopathy, retinal toxicity from phenothiazine use, and chloroquine/hydroxychloroquine retinopathy.
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