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Results for “RETINITIS PIGMENTOSA”

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PubMed1982

Cataract surgery in retinitis pigmentosa patients.

From the UCLA Retinitis Pigmentosa Registry, 30 patients with 54 aphakic eyes were studied in a retrospective analysis to evaluate the results of cataract surgery. Patients consisted of 19 men and 11 women, with an age range at the time of cataract surgery from 24 to 75 years (mean 47 years). After surgery all aphakic eyes showed some improvement in visual acuity; 83% of eyes demonstrated improvement in visual acuity of at least two lines on the Snellen chart, and 52% of eyes achieved a visual acuity of 20/50 or better. In all eyes, the postoperative visual field was unchanged when compared with the preoperative visual field. Subjectively, 83% of patients reported benefit from cataract surgery. Guidelines for the preoperative evaluation of retinitis pigmentosa (RP) patients with cataracts are presented.

Adult↗

PubMed2001

[A differentiated study of the retinal function in segmental retinitis pigmentosa by multifocal electroretinograms].

PURPOSE: Generalized retinal degenerations such as retinitis pigmentosa may manifest with focal retinal dysfunctions. These may be detected objectively by new electrophysiological techniques, such as multifocal electroretinography (ERG). CASE REPORT: A mother and daughter, aged 81 and 46 years, showed bilateral caudal bone spiculae formations with corresponding cranial visual field defects in the static perimetry of the central visual field (Octopus) and in the kinetic perimetry (Goldmann). RESULTS: Pattern VEP, pattern ERG, EOG, and cone ERG were within the normal range. The scotopic ERG was in the lower normal range. The multifocal cone ERG of the central 50 degrees showed reduced amplitudes and prolonged latencies in the first-order response component. These findings corresponded to the area of the bone spiculae and the scotomata. CONCLUSION: Multifocal ERG enables the detection of focal retinal cone dysfunction in segmental retinitis pigmentosa. It is an additional tool that may aid in the diagnosis and classification of this disease.

Age Factors↗

PubMed1980

Risk factors for genetic typing and detection in retinitis pigmentosa.

An outpatient population with retinitis pigmentosa was evaluated with respect to best corrected visual acuity, cycloplegic refractive error, appearance of the lenses, presence or absence of bone spicule pigmentation, age of onset of night blindness by history, and presence or absence of a history of parental consanguinity. The population included 489 affected patients subdivided into the four following groups: 69 (14.1%) dominant, 67 (13.7%) autosomal recessive, 34 (7.0%) X-chromosome-linked, and 319 (65.2%) isolate. Contingency table and life table analyses showed that significant differences existed for these criteria among the various groups. An analysis based on data from 35 families showed significant differences with respect to best corrected visual acuity and cylindrical refractive error when comparing affected patients with their age-matched normal relatives. These findings support the idea that observations in a routine ocular examination can aid in genetic classification of affected patients and in selection of relatives of affected patients who are at higher risk for having early stages of retinitis pigmentosa.

Adolescent↗

PubMed1981

Vitreous fluorophotometry in patients with retinitis pigmentosa.

Fifteen patients with various genetic types of retinitis pigmentosa and three carriers of the X-linked recessive type were examined with vitreous fluorophotometry. All patients with retinitis pigmentosa showed abnormally high concentrations of fluorescein within the vitreous that reflected an abnormality of the blood-retinal barrier. The amount of fluorescein within the vitreous correlated with the extent of photoreceptor and retinal pigment epithelial disease, as well as with the presence of leakage from retinal capillaries. Vitreous fluorophotometric measurements can show breakdown of the blood-retinal barrier in patients with retinitis pigmentosa who have no ophthalmoscopically apparent abnormalities and only minor changes on the electroretinogram (ERG). Furthermore, a breakdown of the blood-retinal barrier can be apparent in carrier of the X-linked recessive from of retinitis pigmentosa, even though the findings from a fundus examination and ERG recordings are normal.

Adolescent↗

PubMed1975

X-linked retinitis pigmentosa.

Of 107 consecutive patients with genetically-determined retinitis pigmentosa, 23 were provisionally diagnosed as having inherited the disease in an X-linked fashion. 42 affected males and 61 females were examined, and from the data obtained the following conclusions were drawn: (1) X-linked retinitis pigmentosa exists and is distinct from choroideremia. (2) In contrast to the results of previous surveys, X-linked retinitis pigmentosa is a common form of this disease and over 20 per cent. of retinitis pigmentosa is probably transmitted in an X-linked manner. (3) (a) In contradistinction to the findings of previous investigators, most if not all adult heterozygous females have detectable degenerative changes in the ocular fundus. (b) The ocular changes in heterozygous females are most easily detected by fundus examination, visual field testing, dark adaptation measurements, and estimation of retinal rhodopsin concentration. The single most frequent abnormality is peripheral retinal pigment epithelial atrophy, which is found in all adult heterozygous females. (c) The pattern of retinal dysfunction in heterozygous females, and in particular preservation of the ocular electrical responses, suggests that the disease in women is qualitatively different from that in men and in other genetic forms of retinitis pigmentosa. There is some evidience that the disease in heterozygous women is patchy. (d) Degeneration in heterozygous females is usually symmetrical, but great variation was found in the severity of degeneration amongst heterozygotes of similar ages. No non-genetic influences were found to account for this. No evidence came to light by which the importance of X-chromosome inactivation could be assessed in determining the phenotype of heterozygous women. (4) No evidience is available to determine the number of X-linked genes transmitting the disease.

Adult↗

PubMed1982

Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.

Five patients with retinitis pigmentosa (RP) with probable autosomal recessive inheritance have been identified in whom there is relative preservation of retinal pigment epithelium adjacent to and under retinal arterioles despite a panretinal degenerative process. All the patients were hypermetropic, though patients with RP tend to be myopic. This implies that there is a factor associated with retinal arterioles which locally retards the RP process in these patients. It may be appropriate to look for the PPRPE pattern in hypermetropic RP patients.

Adolescent↗

PubMed1999

Association of antiretinal antibodies and cystoid macular edema in patients with retinitis pigmentosa.

PURPOSE: To report the association of antiretinal antibodies in patients with bilateral cystoid macular edema and retinitis pigmentosa. METHODS: In a prospective study, 30 consecutive patients with bilateral cystoid macular edema and retinitis pigmentosa were tested for antiretinal antibodies. As control subjects, 30 consecutive patients with retinitis pigmentosa who did not have cystoid macular edema and 50 normal subjects without retinitis pigmentosa or cystoid macular edema were tested for antiretinal antibodies. Laboratory personnel performing the antiretinal antibody testing were masked regarding the diagnosis of each patient. RESULTS: Twenty-seven (90%) of 30 patients with retinitis pigmentosa with cystoid macular edema had antiretinal protein antibody activity, compared with three (6%) of 50 normal controls (P < .001) and only four (13%) of 30 control patients with retinitis pigmentosa (P < .001). CONCLUSIONS: We found a significant association between cystoid macular edema and the presence of circulating antiretinal antibodies in patients who presented with retinitis pigmentosa and cystoid macular edema. This study suggests that patients with retinitis pigmentosa with cystoid macular edema may have an autoimmune process that is contributing to the formation of cystoid macular edema in retinitis pigmentosa, but to date, there is no direct evidence that the cystoid macular edema is caused by the antiretinal antibodies.

Adolescent↗

PubMed1994

Postreceptoral contribution to macular dysfunction in retinitis pigmentosa.

PURPOSE: To understand the sites of macular dysfunction in retinitis pigmentosa by evaluating focal electroretinogram (FERG) fundamental and second harmonic components, which are dominated by the activity of the outer and inner retina, respectively. METHODS: FERGs were recorded in response to a uniform field (9 degrees x 9 degrees) flickered sinusoidally at either 8 Hz or 32 Hz. The fundamental components of the responses to both the 8-Hz and 32-Hz stimuli and the second harmonic of the response to the 8-Hz stimulus were measured in their amplitudes and phases. Normal subjects (n = 17), as well as patients with typical retinitis pigmentosa (n = 22), cone dystrophy (CD, n = 7) and X-linked congenital retinoschisis (XLR, n = 5) served as subjects. The fundamental (32-Hz)-second harmonic (8 Hz) amplitude ratio was taken as an index of the relative function of outer-inner layers of the macula. RESULTS: Compared to controls, patients with retinitis pigmentosa showed losses of both FERG fundamental and second harmonic and an increase of the fundamental-second harmonic ratio. Patients with CD also showed losses of both fundamental and second harmonic, but the fundamental-second harmonic ratio was normal. Patients with XLR had a selective loss of the second harmonic, resulting in an increased fundamental-second harmonic ratio. On average, the fundamental-second harmonic ratio of patients with retinitis pigmentosa tended to increase with age. CONCLUSIONS: The results suggest that in retinitis pigmentosa, both receptoral and postreceptoral sites contribute to macular dysfunction. This differs from CD and XLR, where losses appear more selective for the outer and the inner retina. Postreceptoral losses in retinitis pigmentosa may become larger with increasing age.

Adolescent↗

PubMed1988

Mesangioproliferative glomerulonephritis associated with retinitis pigmentosa.

Two patients with retinitis pigmentosa and glomerulonephritis are described. The patients were unrelated and had identical renal lesions, mesangioproliferative glomerulonephritis. This may not be a chance association, and simple dip-stick urine analysis in patients with primary retinal degenerations may lead to earlier identification of renal disease.

Adult↗

PubMed2000

Modifications of retinal neurons in a mouse model of retinitis pigmentosa.

Animal models of retinitis pigmentosa include the rd mouse, in which a mutation of a rod-specific phosphodiesterase leads to the rapid loss of photoreceptors during the early postnatal life. Very little is known about changes occurring in inner retinal neurons after photoreceptor loss. These changes are important in view of the possibility of restoring vision in retinas with photoreceptor degeneration by means of cell transplantation or direct stimulation of inner layers. In this paper, we show that bipolar and horizontal cells of the rd mouse retina undergo dramatic morphological modifications accompanying photoreceptor loss, demonstrating a dependence of second order neurons on these cells. While describing modifications of the rd retina, we also provide quantitative information about neurons of the wild-type mouse retina, useful for future studies on genetically altered animals.

Animals↗

PubMed2005

Disease course of patients with pericentral retinitis pigmentosa.

PURPOSE: To estimate the mean rates of decline of ocular function in patients with an atypical form of retinitis pigmentosa, termed "pericentral retinitis pigmentosa." DESIGN: Retrospective observational study. METHODS: setting: Single-center. patient population: Eighteen patients (ages 32 to 65 years) with pericentral retinitis pigmentosa followed for 3 to 26 years. observational procedures: Snellen visual acuity, Goldmann visual field area (V-4e white test light), and full-field electroretinogram (ERG) amplitudes (0.5 Hz and 30 Hz white flashes). main outcome measures: Mean annual exponential rates of change quantified by repeated-measures longitudinal regression. RESULTS: Estimated mean annual rates of decline of remaining ocular function were 1.2% for visual acuity, 1.9% for visual field area, 2.5% for ERG amplitude to 0.5 Hz flashes, and 2.9% for ERG amplitude to 30 Hz flashes. CONCLUSIONS: The mean rates of loss of remaining ocular function of patients with pericentral retinitis pigmentosa were generally slower than those previously reported for patients with typical forms of retinitis pigmentosa.

Adult↗

PubMed1999

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

The autosomal dominant retinitis pigmentosa (RP) locus, designated RP1, has been mapped through linkage studies to a 4-cM interval at 8q11-13. Here we describe a new photoreceptor-specific gene that maps in this interval and whose expression is modulated by retinal oxygen levels in vivo. This gene consists of at least 4 exons that encode a predicted protein of 2,156 amino acids. A nonsense mutation at codon 677 of this gene is present in approximately 3% of cases of dominant RP in North America. We also detected two deletion mutations that cause frameshifts and introduce premature termination codons in three other families with dominant RP. Our data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology.

Amino Acid Sequence↗

PubMed1980

Retinitis pigmentosa and colon cancer: a previously unreported association.

Retinitis pigmentosa, a hereditary disease characterized by progressive retinal degeneration and blindness, has been associated with numerous diseases. We report the first association between retinitis pigmentosa and colon cancer in 3 of 53 hospitalized patients with retinitis pigmentosa at the Massachusetts General Hospital and Massachusetts Eye and Ear Infirmary for the period from 1962 to 1977.

Adult↗

PubMed2000

Altered expression of secreted frizzled-related protein-2 in retinitis pigmentosa retinas.

PURPOSE: Inherited retinal degenerations such as retinitis pigmentosa (RP) are characterized by progressive death of the photoreceptors due to apoptosis. To identify changes in gene expression associated with the degenerative state in RP retinas, expression profiling of apoptosis-related genes was performed using a gridded array technique. METHODS: Total RNAs from RP and control retinas were used to generate radiolabeled cDNA probes to screen gridded membrane arrays of 205 apoptosis-related genes. Reverse transcription-polymerase chain reaction was used to generate probes corresponding to differentially expressed genes for Northern blot analysis and for mRNA in situ hybridization studies of retinal cryosections. Fluorescence immunocytochemistry was performed on retinal sections using available antibodies. RESULTS: By expression profiling, we identified upregulated expression of the mRNA for secreted Frizzled-related protein-2 (SFRP2) in RP retina in comparison with control. By Northern blot analysis, SFRP2 mRNA levels were 2- to 20-fold higher in RP samples than in controls. The localization of SFRP2 mRNA by in situ hybridization varied according to the degree of degeneration, from stratified in relatively well-preserved retinas to diffuse in the highly degenerative state. By immunofluorescence, SFRP2 protein in RP retinas was found mainly to colocalize with the cell adhesion and signal transducing protein beta-catenin. CONCLUSIONS: SFRPs can regulate apoptosis in vitro and appear to interact with the Wnt/Frizzled signaling pathway, which includes routes to apoptotic activation. Increased SFRP2 expression in RP retinas suggests that an altered pattern of Wnt signal transduction may be a step in the degenerative process linking causal mutations with eventual photoreceptor demise.

Aged↗

PubMed1989

Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa.

Twelve patients with retinitis pigmentosa and chronic macular edema were prospectively treated for 2-week periods with acetazolamide or a placebo in a masked, crossover study. Ten of the 12 patients had both subjective and objective improvement in visual acuity when treated with acetazolamide. Improvement was seen even in patients with an acuity as good as 20/25 at baseline as well as in patients with macular edema present for more than a decade. A dosage of 500 mg/d was found to be more effective than 250 mg/d. Six patients (50%) showed lessening of their macular edema on fluorescein angiography. This angiographically demonstrated improvement was predominantly due to less detectable leakage from retinal capillaries rather than from choroidal capillaries through the retinal pigment epithelium. Improvement in visual acuity was seen in some patients without a detectable change in the amount of angiographic fluorescein leakage.

Acetazolamide↗

PubMed1990

[Early diagnosis and heterogeneity of retinitis pigmentosa].

Early diagnosis of retinitis pigmentosa and related diseases is based on a specific history, on perimetry of the outer isopters, and on rod/cone electroretinography. The remarkable variability of phenomenology, age of onset and genetic pattern, however, often complicate early diagnosis. Continuous consulting and documentation of the course of the disease are considered a meaningful care by the physician and represent the basis for the tasks of the geneticist.

Electroretinography↗

PubMed1995

Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.

Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.

Adolescent↗

PubMed1985

Retinitis pigmentosa in South Africa.

Retinitis pigmentosa (RP), the commonest inherited form of blindness, is a heterogeneous condition which usually manifests as an isolated abnormality, but is occasionally a component of various rare syndromes. The basic defect in RP is unknown, but the recent molecular genetic discovery of linkage with a restriction fragment length polymorphism in X-linked RP offers the potential for carrier screening and antenatal diagnosis of this form of the disorder. In this article we present an overview of RP and an analysis of our findings from a questionnaire survey of 130 affected individuals in 63 families in the Cape Province and Natal. The proportions of the different genetic types of RP were generally in accordance with those found in overseas studies, being 14% autosomal dominant, 9,5% autosomal recessive and 6% X-linked recessive. A further 35% of the affected persons had RP together with other syndromic stigmata, while the remaining 35% could not be classified into any specific genetic category.

Female↗