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PubMed1995

Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.

Retinitis pigmentosa is a term commonly given to a group of inherited and progressive disorders which affect the photoreceptors of the retina. As part of an ongoing research programme throughout Spain, clinical, epidemiological, and genetic studies have been carried out on these diseases. Here, we report the relative frequencies of the different genetic types in 503 non-syndromic and 89 syndromic RP families of Spanish origin. The most frequent syndromic RP forms were Usher syndrome type 1 (20/89 families = 30%) and Usher syndrome type 2 (44 families = 49%). Among non-syndromic RP forms, 12% were autosomal dominant, 39% autosomal recessive and 4% X-linked. Forty-one percent were isolated or simplex cases and in 4% the genetic type could not be established.

Female↗
PubMed1977

Retinitis pigmentosa and a retinal vasculopathy of the Coats type.

Retinitis pigmentosa is occasionally associated with a vasculopathy of the Coats type. Although the clinical appearance of the vaculopathy is similar to that seen in the usual patient iwth Coats's disease, cases associated with retinitis pigmentosa are usually bilateral, equally common in females, and are not seen in childhood. These findings suggest a different etiological process. We speculate that the etiology in such cases may be related to the vascular narrowing and slower circulation known to occur in some retinitis pigmentosa patients.

Adult↗
PubMed2001

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.

Defects in retinal vitamin A metabolism or in genes expressed in the retinal pigment epithelium (RPE) are related to nonsyndromic retinitis pigmentosa (RP). The RLBP1 gene encodes the cellular retinaldehyde-binding protein which, in the RPE and Müller cells of the retina, is thought to play a role in retinoid metabolism and visual pigment regeneration. We describe a study of the involvement of the RLBP1 gene in 50 autosomal recessive retinitis pigmentosa (ARRP) and four retinitis punctata albescens Spanish families. Cosegregation and homozygosity studies using an intragenic polymorphism and three close markers (D15S116, D15S127, and D15S130) ruled out RLBP1 as the cause of ARRP in 26 pedigrees. In the remaining families, SSCP analysis of the coding region and sequencing of the abnormal migrating bands did not detect any disease-causing mutation. These results indicate that mutations in the RLBP1 gene are not responsible for the ARRP or retinitis punctata albescens in this set of Spanish families. We did, however, identify two frequent polymorphisms (3'UTR + 167 G > T, T: 0.23 and G: 0.77; IVS6 + 20 T > C, T: 0.36 and C: 0.64), a silent substitution (S218S), and a rare variant (5'UTR-101 G > A).

Carrier Proteins↗
PubMedDate not supplied

Retinitis pigmentosa and allied retinal diseases: electrophysiologic findings.

The subnormal ERG can be used in young patients to establish the diagnosis of hereditary progressive forms of retinitis pigmentosa and to determine visual prognosis even when changes visible with the ophthalmoscope are minimal or absent. Different waveforms have been demonstrated in patients of comparable age with different genetic types. Defects must exist in the photoreceptors or pigmented epithelium or both to explain the reduced ERG a-wave amplitudes and reduced ERT amplitudes. Marked delays in cone or rod ERG b-wave implicit times or both reflect the wide-spread involvement of cone or rod photoreceptors or both, even in the early stages. These delays also have been recorded from the taurine-deficient cat with nutritionally induced retinal degeneration and from dogs with hereditary retinal degenerations. Attention should be given to those animals with retinal disease that have electrophysiologic abnormalities similar to those seen in patients with retinitis pigmentosa and allied degenerations.

Adolescent↗
PubMed2005

Sector retinitis pigmentosa.

BACKGROUND: Retinitis pigmentosa (RP) is one of the most common hereditary retinal dystrophies and causes of visual impairment affecting all age groups. The reported incidence varies, but is considered to be between 1 in 3,000 to 1 in 7,000. Sector retinitis pigmentosa is an atypical form of RP that is characterized by regionalized areas of bone spicule pigmentation, usually in the inferior quadrants of the retina. CASE REPORT: A 57-year-old Hispanic man with a history of previously diagnosed retinitis pigmentosa came to the clinic with a longstanding symptom of decreased vision at night. Bone spicule pigmentation was found in the nasal and inferior quadrants in each eye. He demonstrated superior and temporal visual-field loss corresponding to the areas of the affected retina. Clinical measurements of visual-field loss, best-corrected visual acuity, and ophthalmoscopic appearance have remained stable during the five years the patient has been followed. DISCUSSION: Sector retinitis pigmentosa is an atypical form of RP that is characterized by bilateral pigmentary retinopathy, usually isolated to the inferior quadrants. The remainder of the retina appears clinically normal, although studies have found functional abnormalities in these areas as well. Sector RP is generally considered a stationary to slowly progressive disease, with subnormal electro-retinogram findings and visual-field defects corresponding to the involved retinal sectors. CONCLUSION: Management of RP is very difficult because there are no proven methods of treatment. Studies have shown 15,000 IU of vitamin A palmitate per day may slow the progression, though this result is controversial. Low vision rehabilitation, long wavelength pass filters, and pedigree counseling remain the mainstay of management.

Disease Progression↗
PubMed1979

Asymmetric retinitis pigmentosa, luetic retinopathy and the question of unilateral retinitis pigmentosa.

A seropositive patient with the fundus appearance of monocular luetic retinopathy is presented. Electrophysiologically, this patient shows a late-onset form of progressive tapetoretinal degeneration (retinitis pigmentosa) presenting in an extremely asymmetric manner. The differential diagnosis of luetic and other inflammatory retinopathies vs. tapetoretinal degenerations is briefly discussed. Features distinguishing unilateral retinitis pigmentosa from bilateral tapetoretinal degenerations are reviewed, and the existence of unilateral retinitis pigmentosa as a genetic entity is questioned. Prolongation of ERG- a- and b-wave implicit times is characteristic of the tapetoretinal degenerations, and normal implicit times in the fellow eye are suggested as an additional criterion for the diagnosis of unilateral retinitis pigmentosa.

Dark Adaptation↗
PubMed2002

[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].

OBJECTIVE: To investigate the frequency and pattern of RP1 point mutations in Chinese retinitis pigmentosa (RP) patients and to examine their effects on the development of RP. METHODS: Conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing were used to determine sequence alterations occurring in the entire coding region of the RP1 gene in 101 Chinese RP patients in Hong Kong. RESULTS: R677X was detected in one RP patient. A nonpathogenic nonsense mutation, R1933X, was identified in three normal individuals and one patient with Stargardt disease. The frequency of RP1 mutations among all RP patients in this study is 1/101. R677X is expected to lead to large disruptions of the encoded protein. Additionally, 10 more missense alterations in the RP1 gene were identified in the subjects of this study. Apart from M479I whose pathogenicity can not be determined currently, other sequence changes are just polymorphisms of the RP1 gene. CONCLUSION: The nonpathogenicity of R1933X indicates that the C-terminal 224 residues of RP1 protein may be not critical for RP1. Recently, a C-termnal truncating mutation, Y1053(1 bp del), was reported to occur in an RP patient. Thus RP can be caused by lack of the region of RP1 protein after codon 1052 but before 1933. To confirm such a proposition, a large genotyping study is necessary and is likely to reveal more RP causative mutations and uncover more sequence alterations different from those of other ethnic groups.

Adolescent↗
PubMed1998

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

PURPOSE: Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases. PATIENTS AND METHOD: patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate genes: rhodopsin (RHO), peripherin/RDS, and ROM-1. RESULTS: the most frequent type of RP among our population was the autosomal dominant (43.6%). Three RHO mutations were found among the RP patients. A RDS mutation was detected in three unrelated families segregating dominant macular dystrophy. DISCUSSION AND CONCLUSIONS: 18% of the autosomal dominant RP patients presented a RHO mutation; RDS R172W mutation was present in 25% of the dominant macular dystrophies.

Adult↗
PubMed1987

Ganglioside administration in retinitis pigmentosa.

The retinitis pigmentosa process typically causes variably progressive visual loss due to retinal photoreceptor and pigment epithelial cell deterioration. No effective agent either to retard or stop the deterioration has been known. Because gangliosides have been shown to have a variety of trophic effects on peripheral nervous tissue, we administered a daily 40 mg intramuscular dose in a prospective, double-blind, randomized, placebo-controlled trial in 30 persons with retinitis pigmentosa with or without congenital deafness. When we compared baseline performance on the two principal study outcomes, visual field area and electroretinographic response amplitudes, there was a marginally statistically significant increase in visual field area in the ganglioside-treated group. The subgroup of subjects who had recordable electroretinograms at baseline and who received the drug showed in three of five cases an increase in amplitude to all stimuli. These results appear encouraging; however, the data must be interpreted cautiously because the numbers of individuals are very small. Further study of the possible benefits of ganglioside administration to retinitis pigmentosa patients appears warranted.

Adult↗
PubMedDate not supplied

Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa.

A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling.

Adolescent↗
PubMed1998

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.

Recently a new gene called RPGR (retinitis pigmentosa GTPase regulator) was isolated in Xp21.1 and found to be mutated in patients with RP3 type X-linked retinitis pigmentosa. Two new mutations, the first a single base pair deletion and the other a two base pairs deletion, have been found in one Spanish and one Italian family.

Carrier Proteins↗
PubMed1995

[Social ophthalmologic aspects of retinitis pigmentosa].

Inherited retinal degenerations cause severe visual handicaps or blindness later in life. In typical rod cone dystrophy (retinitis pigmentosa) there is relevant visual loss in the third decade with implications for the patients' professional life, their mobility and their private life. For this reason, the disease is relevant for the individual patient as well as for society in general. We investigated social issues in 233 retinitis pigmentosa patients: 9.9% are not able to read any more; 40.9% have never had a driver's license and 27.8% quit driving because of a visual handicap. The mean reduction in the capacity for work is 86%; 12.7% are unable to work and therefore receive public financial support; 22.6% are unable to work in their profession; 20.9% are receiving public support because of legal blindness. Against this background it seems to be important that ophthalmologists inform their patients thoroughly about the implications of the disease for their professional and private lives. Doing this, he/she should ask for support from social service professionals.

Activities of Daily Living↗