SEARCH · PubMed Health

Results for “RETINITIS PIGMENTOSA”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 325 records · Page 18Linked to original sources

PubMed1987

[Coat's type retinitis pigmentosa].

A twenty-two-year-old woman with a history of long-Standing retinitis pigmentosa and recently discovered bilateral exudative retinal detachments of the Coats' type is described. This widely unrecognized association has been reported to occur in up to 2% of patients with retinitis pigmentosa. Unlike the usual Coats' syndrome, it is more often bilateral, shows no sex preference and occurs in older individuals. Heightened awareness of this potentially treatable complication of retinitis pigmentosa may facilitate earlier recognition of the problem, which may lead to more timely treatment and a better prognosis.

Adult↗

PubMed1990

Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.

Autosomal dominant forms of retinitis pigmentosa appear among the most frequent types of retinal degenerations. Two clinical subtypes have been recognized, namely the early onset, severe form (type I) and the late onset, moderate form (type II). A linkage between the D3S47 probe (C17) with the gene of the type I has been recently demonstrated by Humphries et al., 1989. Here, two families with type II of the disease have been tested for possible allelism at the D3S47 locus. A negative lod-score was found with this probe and a linkage with this region could be excluded. These results support the hypothesis of a genetic heterogeneity in autosomal dominant forms of retinitis pigmentosa.

Genes, Dominant↗

PubMed1992

Case report: retinitis pigmentosa following cytotoxic chemotherapy in Usher's syndrome.

Ocular toxicity is an uncommon complication of cytotoxic chemotherapy. Retinitis pigmentosa complicating cancer chemotherapy has not been reported. A patient with probable Usher's syndrome (congenital sensorineural deafness) had apparent acceleration of retinitis pigmentosa with blindness following cytotoxic chemotherapy for non-Hodgkin's lymphoma. Retinitis pigmentosa, a feature of Usher's syndrome, usually develops as a slowly progressive process. The rapid acceleration of retinopathy following tumor therapy suggests a possible relationship to the cytotoxic chemotherapy. Lymphocytes and fibroblasts from patients with Usher's syndrome are hypersensitive to the x-ray type of DNA-damaging agents. The DNA-damaging effects of chemotherapy may have accelerated the progression of retinitis pigmentosa in this patient.

Antineoplastic Combined Chemotherapy Protocols↗

PubMed1981

Altered cellular immunity and suppressor cell activity in patients with primary retinitis pigmentosa.

A group of 54 patients with primary retinitis pigmentosa were studied and the following findings are described: response of lymphocytes to stimulation by phytohaemagglutinin (PHA); response of lymphocytes to stimulation by xenogenic retinal extract; distribution of T and T-active lymphoid populations; total suppressor activity induced by concanavalin-A (con-A). The results obtained showed a reduction in the response to PHA (p less than 0.05), a positive response of 26/45 (p less than 0.001) to stimulation by retinal extract, a reduction in the T and T-active lymphoid populations (p less than 0.01), (p less than 0.01), and a diminished total suppressor activity induced by con-A (p less than 0.01). This alterations of immune cellular responses and the diminished suppressor activity in the group of patients, in comparison with a control group of healthy subjects, seems to indicate the existence of an immune process of disregulation (autoimmunity?) in the pathology of primary retinitis pigmentosa.

Adult↗

PubMed1998

[Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa].

PURPOSE: To disclose the mutation of rhodopsin and peripherin/RDS genes among Chinese patients with retinitis pigmentosa as there was no identified mutation through sequencing reported in Chinese. METHODS: Genomic DNA was prepared from the peripheral lymphocytes. Gene fragments of the rhodopsin and peripherin/RDS genes were amplified by the polymerase chain reaction. The PCR products were analyzed by Heteroduplex-SSCP technique. PCR samples with aberrant migrational bands were identified through direct sequencing or cloning sequencing. RESULTS: Three different mutations in the rhodopsin gene were found in 3 of the 83 patients with retinitis pigmentosa(Va1104Phe, Lys311Glu, Pro347Leu). Two of the three mutations have not been reported before. One of the two (heterozygous, Va1104Phe) was found in an isolated patient and the other (homozygous, Lys311Glu) in a family with autosomal recessive retinitis pigmentosa. Mutation of peripherin/RDS gene was not found in the 83 patients. CONCLUSION: Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic.

Base Sequence↗

PubMed1990

Retinal hemangioma-like lesions in eyes with retinitis pigmentosa.

The authors report two patients with bilateral vascular masses of the peripheral retina associated with primary pigmentary dystrophy of the retina (retinitis pigmentosa). Although they are most similar to the retinal capillary hemangiomas of von Hippel, the affected patients had no clinical history or clinical findings suggestive of that syndrome. They differ from the calcified retinal hamartomas that have been associated with retinitis pigmentosa because they do not show the extensive telangiectasia and exudation seen with the exudative retinopathy that has been described with retinitis pigmentosa. They do not show the fluorescein angiographic pattern that characterizes peripheral choroidal neovascularization. Their main complication seems to be vitreous hemorrhage rather than exudative retinopathy. The authors discuss the possible relationship of these acquired retinal vascular masses to the retinitis pigmentosa.

Adrenal Cortex Hormones↗

PubMed1997

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

X-linked retinitis pigmentosa (XLRP) is a severe form of inherited progressive retinal degeneration. The RP3 (retinitis pigmentosa type 3) locus at Xp21.1 is believed to account for the disease in the majority of XLRP families. Linkage analysis and identification of patients with chromosomal deletion have refined the location of the RP3 locus and recently have led to the cloning of the RPGR (retinitis pigmentosa GTPase regulator) gene, which has been shown to be mutated in 10%-15% of XLRP patients. In order to systematically characterize the RPGR mutations, we identified 11 retinitis pigmentosa type III (RP3) families by haplotype analysis. Sequence analysis of the PCR-amplified genomic DNA from patients representing these RP3 families did not reveal any causative mutation in RPGR exons 2-19, spanning >98% of the coding region. In patients from two families, we identified transition mutations in the intron region near splice sites (IVS10+3 and IVS13-8). RNA analysis showed that both splice-site mutations resulted in the generation of aberrant RPGR transcripts. Our results support the hypothesis that mutations in the reported RPGR gene are not a common defect in the RP3 subtype of XLRP and that a majority of causative mutations may reside either in as yet unidentified RPGR exons or in another nearby gene at Xp21.1.

Adult↗

PubMed1995

Genetic features of retinitis pigmentosa in Turkey.

Sixty-two cases with retinitis pigmentosa from 42 index families were investigated to reveal the genetic features of the disease in Turkey. There were 42 propositi of whom 5 had a systemic syndrome associated with retinitis pigmentosa. Of the remaining 37 cases the condition was autosomal recessive in 21 (56.8%), sporadic in 12 (32.4%), autosomal dominant in 3 (8.1%) and X-linked recessive in one (2.7%). Sporadic cases may be more frequent as many hereditary cases are not brought to medical attention in rural families. Male preponderance among sporadic cases may indicate that there may be more X-linked cases. Nine out of 21 cases initially classified as sporadic displayed parental consanguinity and they were included as having autosomal recessive trait. Large families with autosomal recessive inheritance may prove valuable in linkage analysis and in defining future gene abnormalities.

Adolescent↗

PubMed1999

Optical coherence tomography of cystoid macular edema associated with retinitis pigmentosa.

PURPOSE: To detect cystoid macular edema in consecutive eyes with retinitis pigmentosa by means of optical coherence tomography and to study the correlation between cross-sectional structures and angiographic findings in cystoid macular edema. METHODS: In a prospective study, cross-sectional images through the fovea were evaluated by means of optical coherence tomography in 89 phakic eyes of 46 patients with retinitis pigmentosa. Eyes showing cystoid appearance in the macula in the optical coherence tomographic images were further studied with measurement of the dimensions of cystoid lesions and with a fluorescein angiogram either at 18 minutes after dye injection or later. RESULTS: Cystoid lesions were observed in the macula in optical coherence tomographic images in 12 eyes in six (13%) of 46 patients. In these eyes, the width of total area of the cystoid lesions was positively correlated with the grade of fluorescein angiogram (Spearman rank correlation coefficient, r = .629; P = .029), but the thickness of the neurosensory retina at the center of the fovea was not. Among three variables for grading cystoid macular edema, consisting of angiographic grade, thickness of the neurosensory retina at the center of the fovea, and width of total area of the cystoid lesions, only the last measure was significantly correlated with best-corrected visual acuity (Pearson correlation coefficient, r = .693; P = .012). CONCLUSION: Cystoid macular edema in eyes with retinitis pigmentosa could easily be detected with the use of optical coherence tomography independent of the angiographic degree of dye leakage. The size of cystoid lesions demonstrated in the optical coherence tomographic images, especially the thickness of the neurosensory retina at the center of the fovea, was not necessarily correlated with the angiographic grading of dye leakage. Measurement of the width of total area of the cystoid lesions in the optical coherence tomographic images is significantly correlated with the loss of visual acuity.

Adolescent↗

PubMed1987

Pupillometric measures of retinal sensitivity in infants and adults with retinitis pigmentosa.

Steady-state pupil diameter was measured in darkness and over a 9 log unit range of Ganzfeld illumination in 20 normal adults, 28 normal infants, 59 adults with retinitis pigmentosa, and 30 children at risk for retinitis pigmentosa. Pupil threshold was defined as the retinal illuminance necessary to decrease pupil diameter by 1.0 mm relative to the diameter in darkness. Spectral measurements in normal adults confirmed that pupil threshold was determined primarily by rods with this procedure. Pupil thresholds of newborns and infants did not differ significantly from those of normal adults. In patients with retinitis pigmentosa, elevations in pupil threshold were related to rod loss as indexed by reductions in rod ERG amplitude. Electroretinographic follow-up of 13 of the children at risk for retinitis pigmentosa showed normal rod ERG function in 5 children who had pupil thresholds within the normal range and significant rod ERG loss in 8 children who had elevated pupil thresholds.

Adolescent↗

PubMed1976

Copper metabolism in retinitis pigmentosa.

Clinically and electrophysiologically confirmed cases of primary retinitis pigmentosa have been investigated regarding their copper metabolic state. It is observed that these patients show a normal or near normal serum copper concentration, very low plasma caeruloplasmin concentration, and a very high copper urinary excretion. A similarity between this condition and hepatolenticular degeneration is drawn and it is suggested that retinitis pigmentosa may also be a condition caused by an inborn error of copper metabolism.

Adolescent↗

PubMed1985

Laminin detection in normal and retinitis pigmentosa human retina.

Epiretinal membrane formation in the posterior pole is an almost constant feature of eyes with retinitis pigmentosa. Using a modified direct immunofluorescence reaction, we demonstrated a strong reaction with antilaminin in a band-like pattern on the inner retinal surface of 3 eyes with retinitis pigmentosa. There were also strongly-laminin-positive pigmented and unpigmented cells scattered throughout the degenerated retinas. This pattern was in sharp contrast to that seen in normal retinas, where the linear band of reaction at the internal limiting membrane was faint and accompanied by a zone of reaction at the level of the outer limiting membrane. Quantitation of laminin by ELISA revealed a six- to ten-fold increase (per mg protein) in retinitis pigmentosa retinas, as compared with normal. Since both glial and retinal pigmented epithelial cells can synthesize and deposit laminin, both may participate in the gliosis that occurs during the course of retinitis pigmentosa.

Adult↗

PubMed2001

Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.

We describe three new mutations in a recently identified exon, ORF15, of the retinitis pigmentosa GTPase regulator gene (RPGR) in three unrelated Japanese families (Families 1-3) with X-linked retinitis pigmentosa (XLRP). The affected males had typical retinitis pigmentosa (RP), whereas the obligate carrier females showed a wide clinical spectrum, ranging from minor symptoms to severe visual disability. Some carrier females in Families 1 and 2 showed typical RP, most carriers manifested high myopia and astigmatism, and their corrected visual acuity was insufficient. They showed an impairment of cone function following the rod dysfunction and accompanied by refractive errors. Microsatellite analysis of Family 1 revealed that the RP in the family was linked to the RP3 locus. Although one patient in the family had no mutation in the previously published exons 1-19 including exon 15a, he had a single-nucleotide insertion in exon ORF15 (g.ORF15 + 753-754 insG). Likewise, patients in Families 2 and 3 had two-base insertion/deletion in the exon, i.e., g.ORF15 + 833-834delGG and g.ORF15 + 861-862insGG, respectively. These insertional/deletional mutations observed in the three families are all different and new, and are predicted to lead to a frameshift, resulting in a truncated protein. These findings may support the previous hypothesis that RPGR-ORF15 is a mutational hot spot.

Adult↗

PubMedDate not supplied

Cystoid macular edema in retinitis pigmentosa.

Cystoid macular edema was commonly observed in retinitis pigmentosa and documented, fluorangiographically, in 70% (41) of 58 consecutive patients. Macular fluorescence representing the intraretinal accumulation of dye from leaking perifoveal capillaries was best seen by simultaneous projection of early- and late-phase angiograms. This facilitated visualization of dim cystoid staining amid mottled and sometimes confusing hyperfluorescence in the posterior pole. Patients of many different ages demonstrated cystoid macular edema and there was no predominant involvement of any particular age group. Although visual acuity was affected in the majority of patients with cystoid macular edema, 25% had 20/25 or better due, perhaps, to sparing of the fovea. Bone corpuscular pigmentation appeared frequently with cystoid macular edema and we were, therefore, unable to corroborate previous opinions that depicted cystoid macular edema as part of a presumed atypical nonpigmented form of retinitis pigmentosa.

Adult↗

PubMed1994

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

BACKGROUND: Mutations in the human peripherin/retinal degeneration slow (rds) gene have been found in patients with macular dystrophies as well as in those with autosomal dominant retinitis pigmentosa. The authors studied the clinical features in members of two families with autosomal dominant retinitis pigmentosa and a previously unreported mutation in the peripherin/rds gene. METHODS: Affected family members underwent a clinical ophthalmic examination and electrophysiologic and psychophysical testing. Available family members were evaluated for a mutation in the peripherin/rds gene. RESULTS: A mutation in codon 216 of the peripherin/rds gene, resulting in a substitution of the amino acid serine for proline, was found to segregate with retinitis pigmentosa in these two families. Ocular features of this mutation include a later onset of more notable ophthalmoscopic, electrophysiologic, and psychophysical abnormalities of the retina, an atrophic-appearing foveal lesion, and extrafoveal atrophic and hyperpigmented degenerative retinal changes, which were found more posteriorly than usually seen in patients with retinitis pigmentosa. Visual field testing showed a partial ring scotoma or pear-shaped configuration of the remaining portions of the peripheral fields. CONCLUSION: A previously undescribed mutation in the peripherin/rds gene is responsible for an autosomal dominant retinitis pigmentosa phenotype. This phenotype tends to be associated with the development of an atrophic-appearing foveal lesion, more posterior distribution of pigmentary changes involving the vascular arcades, the presence of a partial ring scotoma or a pear-shaped configuration of the peripheral visual field, and a later onset of more extensive retinal structural and functional impairment.

Adolescent↗

PubMed2002

Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.

Mutations in the X-linked retinitis pigmentosa 2 gene cause progressive degeneration of photoreceptor cells. The retinitis pigmentosa 2 protein (RP2) is similar in sequence to the tubulin-specific chaperone cofactor C. Together with cofactors D and E, cofactor C stimulates the GTPase activity of native tubulin, a reaction regulated by ADP-ribosylation factor-like 2 protein. Here we show that in the presence of cofactor D, RP2 protein also stimulates the GTPase activity of tubulin. We find that this function is abolished by mutation in an arginine residue that is conserved in both cofactor C and RP2. Notably, mutations that alter this arginine codon cause familial retinitis pigmentosa. Our data imply that this residue acts as an "arginine finger" to trigger the tubulin GTPase activity and suggest that loss of this function in RP2 contributes to retinal degeneration. We also show that in Saccharomyces cerevisiae, both cofactor C and RP2 partially complement the microtubule phenotype resulting from deletion of the cofactor C homolog, demonstrating their functional overlap in vivo. Finally, we find that RP2 interacts with GTP-bound ADP ribosylation factor-like 3 protein, providing a link between RP2 and several retinal-specific proteins, mutations in which also cause retinitis pigmentosa.

Amino Acid Sequence↗

PubMed1990

Electroretinographic diagnosis in families with X-linked retinitis pigmentosa.

Four families with X-chromosome linked retinitis pigmentosa (14 patients, 14 carriers and 11 normal relatives) were investigated with full-field ERG with computer averaging and an electronic narrow bandpass filter. Reliable ERGs were obtained with 30 Hz flickering white light from 13 out of 14 patients with the disease, all severely affected. Further, B-wave implicit times were found to be more informative than B-wave amplitudes for identifying carriers of the disease. Full-field ERG appears to be a valuable tool for studying X-chromosome linked retinitis pigmentosa families, when necessary supported with computer averaging and a narrow bandpass filter.

Computer Systems↗

PubMed2004

A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.

PURPOSE: To define ophthalmic findings in a family with autosomal dominant retinitis pigmentosa and a novel IMPDH1 gene mutation. DESIGN: Genetic and observational family study. PARTICIPANTS: Sixteen affected members of a family with autosomal dominant retinitis pigmentosa. METHODS: Ophthalmic examination, including best-corrected visual acuity (VA), slit-lamp biomicroscopy, direct and indirect ophthalmoscopy, Goldmann kinetic perimetry, and electroretinography were performed. Deoxyribonucleic acid single-strand conformation polymorphism (SSCP) analysis was done. Abnormal polymerase chain reaction products identified by SSCP analysis were sequenced bidirectionally. RESULTS: All affected patients had the onset of night blindness within the first decade of life. Ocular findings were characterized by diffuse retinal pigmentary degenerative changes, marked restriction of peripheral visual fields, severe loss of VA, nondetectable electroretinography amplitudes, and a high frequency of posterior subcapsular lens opacities. Affected members were observed to harbor a novel IMPDH1 gene mutation. CONCLUSION: A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa. Families affected with a severe form of this genetic subtype should be investigated for a mutation in the IMPDH1 gene.

Adolescent↗