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Results for “RETINITIS PIGMENTOSA”

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PubMed1994

Clinical symptoms at different ages in autosomal dominant retinitis pigmentosa. A family study in three generations.

A family with autosomal dominant retinitis pigmentosa in three generations was studied. The age of the patients varied from 11 to 66 years. From the youngest to the eldest member of the family, the visual acuity varied from 1.0 to 0.4, the defect in the visual fields from a relative ring scotoma to a tubular field of 5 degrees, and the rod threshold in dark adaptation from normal to an elevation of 3 log units. Color vision was normal in all of the family members. The fundus changes varied from coarseness of retinal pigment epithelium to bone spicule pigmentation with narrow vessels and pale optic nerve head. The progression of autosomal dominant retinitis pigmentosa has been reported to be milder than in the other types of retinitis pigmentosa. The clinical symptoms of the family in the present study confirm this finding.

Adult↗

PubMed1984

Immune complexes in retinitis pigmentosa.

In a group of 46 patients with retinitis pigmentosa (RP) we studied the presence of circulating immune complexes (CIC) and the alterations in the complement system. Our results showed the presence of CIC in 43.5% of the patients studied, reduced levels of the complement components C3 and C4 (p less than 0.001), and of the haemolytic activity CH50 (p less than 0.001) when compared with a control group consisting of a 100 healthy subjects. We found a statistically significant correlation between the values of C3 and CIC (p less than 0.01), C4 and CIC (p less than 0.01), and between CH50 and CIC (p less than 0.001). These findings indicate that the CIC may play a role in the pathogenesis of primary retinitis pigmentosa.

Adolescent↗

PubMed2006

Retinitis pigmentosa, pigmentary retinopathies, and neurologic diseases.

Retinitis pigmentosa (RP) refers to a group of inherited retinal diseases with phenotypic and genetic heterogeneity. The pathophysiologic basis of the progressive visual loss in patients with RP is not completely understood but is felt to be due to a primary retinal photoreceptor cell degenerative process mainly affecting the rods of the peripheral retina. In most cases RP is seen in isolation (nonsyndromic), but in some other cases it may be a part of a genetic, metabolic, or neurologic syndrome or disorder. Nyctalopia, or night blindness, is the most common symptom of RP. The classic fundus appearance of RP includes retinal pigment epithelial cell changes resulting in retinal hypo- or hyperpigmentation ("salt-and-pepper"), retinal granularity, and bone spicule formation. The retinal vessels are often narrowed or attenuated and there is a waxy pallor appearance of the optic nerve head. Electroretinography will demonstrate rod and cone photoreceptor cell dysfunction and is a helpful test in the diagnosis and monitoring of patients with RP. A detailed history with pedigree analysis, a complete ocular examination, and the appropriate paraclinical testing should be performed in patients complaining of visual difficulties at night or in dim light. This review discusses the clinical manifestations of RP as well as describing the various systemic diseases, with a special emphasis on neurologic diseases, associated with a pigmentary retinopathy.

Humans↗

PubMed1984

Prevalence of retinitis pigmentosa in Maine.

Between 1976 and 1980, medical and social service sources were used to ascertain cases of retinitis pigmentosa in Maine (1980 population, I, 124,660). As of July 1, 1980, 241 clinically prevalent cases of retinitis pigmentosa were ascertained. Extensive pedigrees were collected for 185 of the subjects and medical records were obtained. One hundred fourteen cases were further evaluated by clinical examination including electroretinography. Adjusting for incorrect diagnosis (eight of 114, 7%) and underascertainment (23 of 185, 12.5%), we estimated that prevalence of retinitis pigmentosa in Maine is 236 cases, 21 per 100,000 population or 1:4,756. Excluding Usher and Bardet-Biedl syndromes, the prevalence is 1:5,193. Estimated birth incidence of persons who will become affected with non-syndrome retinitis pigmentosa is 1:3,544. Incidence of newly diagnosed cases per year is about six per 1,000,000 population. Among kindreds, 16 of 85 (19%) were autosomal dominant, 55 of 85 (65%) autosomal recessive or isolated cases, seven of 85 (8%) X-linked recessive, and seven of 85 (8%) not classified by mode of transmission.

Adolescent↗

PubMed1984

Pseudohypoparathyroidism (PHP) type II and selective hypoaldosteronism in a patient with retinitis pigmentosa.

A 53-year-old man with retinitis pigmentosa, who had two years' complaints of general malaise and muscle weakness, noticed occasional attacks of the cramps of the lower legs about three months prior to admission. At that time, hypocalcemia (7.6 mg/dl) and hyperphosphatemia (5.2 mg/dl) were pointed out. On admission, serum potassium was high-normal or high (4.4 - 4.9 mEq/l). Endocrinological studies revealed the findings of pseudohypoparathyroidism (PHP) type II, including a normal urinary cyclic AMP but blunted phosphaturic response to synthetic human parathyroid hormone (PTH), a high level of serum amino-terminal fragment of PTH with a low level of serum calcium and its ionized form, and a high-normal level of nephrogenous cyclic AMP. This patient also had selective hypoaldosteronism, as shown by intermittent hyperkalemia, low plasma and urinary levels of aldosterone and normal glucocorticoid levels. Plasma renin activity was normal but responded to a greater extent to furosemide plus upright posture. Plasma aldosterone was low and responded poorly to furosemide plus upright posture and graded angiotensin II infusions. The possible explanations for the association of PHP type II and selective hypoaldosteronism in this patient with retinitis pigmentosa are discussed.

Aldosterone↗

PubMed1989

Pattern visual evoked cortical potential measurement of luminance threshold in retinitis pigmentosa.

We measured the luminance threshold in eight patient (12 eyes) with retinitis pigmentosa using pattern reversal visual evoked cortical potentials (PVECPs). With decreasing pattern luminance (0 to 3.0 log unit neutral density filters), the amplitude of the p 100 component decreased linearly. Luminance threshold was determined by extrapolating the regression line of amplitude as a function of luminance to 0 microV. Our results showed that luminance threshold measured by PVECP was approximately 1.2 log units higher in patients with retinitis pigmentosa than in age-matched normal controls. Thus the PVECP may provide a way of quantitatively evaluating central retinal visual function in patients with retinitis pigmentosa.

Adolescent↗

PubMed1977

The association of retinitis pigmentosa with preretinal macular gliosis.

A retrospective study of the histopathological features of retinitis pigmentosa was undertaken. A consistent finding in 10 out of 10 eyes from 6 patients with retinitis pigmentosa was the presence of a preretinal membrane. The frequency of this finding has not been noted previously. Preretinal gliosis may well be responsible for the production of the abnormal glinting fundus reflex seen at the posterior pole in retinitis pigmentosa.

Adult↗

PubMed1994

Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosa.

PURPOSE: To determine the effectiveness of methazolamide for improving visual acuity and macular edema in patients with retinitis pigmentosa. METHODS: Seventeen subjects with retinitis pigmentosa and chronic macular edema participated in a prospective, placebo-controlled, double-masked, crossover design study in which either methazolamide or a placebo was taken for 3 weeks. Visual acuity, fluorescein angiograms, and subjective impressions were obtained at baseline and after 3 weeks of treatment with each substance. A subgroup of subjects were enrolled in a more extended period of methazolamide treatment for an additional 3 months. RESULTS: Methazolamide resulted in the improvement of angiographic macular edema in 9 of 17 subjects. As a group, visual acuity statistically improved with methazolamide. However, improvement in at least one eye, of between two and four lines more than while taking placebo, occurred in only three (undilated pupils) or four (dilated pupils) subjects. Subjective improvement during treatment with methazolamide but not placebo occurred in only one subject. An extended period of methazolamide treatment for an additional 3 months in a subgroup of patients did not result in additional beneficial effects on visual acuity. In fact, a partial rebound in the extent of macular edema was found. CONCLUSIONS: Although angiographic improvement of macular edema can occur in patients with retinitis pigmentosa treated with methazolamide, notable (between 3 and 4 lines) or even moderate (between 2 and 3 lines) visual acuity improvement was seen in relatively few patients. When methazolamide was administered in a placebo-controlled fashion, subjective improvement in visual function also was not readily apparent. A more substantial subjective improvement in visual function had occurred with the use of acetazolamide in five of six subjects who also had participated in a previous treatment trial with the use of acetazolamide.

Adolescent↗

PubMed1996

[Improving contrast sensitivity by cut-off filters in high adaptation luminance levels in retinitis pigmentosa].

BACKGROUND: Contrast requirements in patients suffering from retinitis pigmentosa (RP) exceed those of healthy subjects. So far, studies examining contrast sensitivity have been performed at luminance levels of several 100 cd/m2. However, to simulate as closely as possible outdoor levels of luminance, several 1000 cd/m2 are necessary. PATIENTS AND METHODS: We used the Vistech contrast sensitivity charts at a standard high luminance of 5500 cd/m2. Contrast sensitivity was evaluated in 20 healthy subjects (visual acuity 1.10 +/- 0.15) and 25 patients with RP (visual acuity 0.50 +/- 0.29) with and without commercially available cut-off spectacle filters (Zeiss F 80, Zeiss F 90 and Rodenstock L 660. RESULTS: Patients with retinitis pigmentosa showed an increase of contrast sensitivity with all three cut-off filters. This was statistically significant at a spatial frequency of 1.5 cycl/deg (P < 0.027), but not for higher frequencies of 6-18 cycl/deg (P < 0.5). The healthy volunteers did not show any increase in contrast sensitivity values with cut-off filters. CONCLUSION: Evaluating contrast sensitivity at high levels of luminance is useful to identify patients who benefit from cut-off filters. All RP patients subjectively preferred to wear cut-off filters. A statistically proven beneficial effect of cut-off glasses could be found for low spatial frequencies. An individual fitting of the various types of cut-off filters is inevitable.

Adolescent↗

PubMed2004

Retinitis pigmentosa in Benin, Nigeria.

OBJECTIVES: To determine the mode of presentation and degree of visual impairment of retinitis pigmentosa in Nigerians. DESIGN: A prospective, non-comparative study. SETTING: University of Benin Teaching Hospital, Benin City, Nigeria. SUBJECTS: Thirty Nigerian patients with a diagnosis of retinitis pigmentosa who presented at the Eye Clinic of the Ophthalmology Department of the University of Benin, Teaching Hospital, Benin City, Nigeria over a three year period (July 1997-June 2000) were included in the study. The clinical features and mode of presentation were noted. The examination included visual acuity, slit lamp examination and fundoscopy. MAIN OUTCOME MEASURES: Presenting symptoms and signs, visual acuity. RESULTS: The degree of visual impairment and clinical features in thirty Nigerians with retinitis pigmentosa seen at the University of Benin Teaching Hospital, Benin City, Nigeria were studied. There were twenty males and ten females. The age range was 14 to 71 years (mean 36.7 years +/- 14.8 years). Fifteen patients (50%) had visual acuity of less than 3/60 while only seven (23.3%) had visual acuity of 6/12 or better. The commonest mode of presentation was poor vision in 90% of the patients followed by night blindness in 56.7%. Others were headaches, flashes of light and floaters. CONCLUSION: The degree of visual loss in Nigerians with retinitis pigmentosa is severe and may be related to the long duration of the disease and age of the patients at presentation. Health education of the public and patients about the need for early presentation to hospital and the use of vitamin A and carbonic anhydrase inhibitors are recommended.

Adolescent↗

PubMed2000

Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity.

PURPOSE: To report the identification of a novel mutation of the RP2 gene in two Japanese brothers with X-linked retinitis pigmentosa of a differing clinical severity. The mother was a carrier of both retinitis pigmentosa and optic atrophy. METHODS: The older brother had a severe form of retinitis pigmentosa associated with macular degeneration and total optic atrophy, whereas the younger brother presented typical X-linked retinitis pigmentosa. RESULTS: Each patient exhibited a novel 2-bp insertion at codon 278 in exon 3 of the RP2 gene as well as a 11778 mutation in mitochondrial DNA. This suggests that the older brother may have developed Leber hereditary optic neuropathy as well as retinitis pigmentosa. CONCLUSION: Molecular testing confirmed the clinical diagnosis in each case. However, such testing did not explain the differences in the severity of the ophthalmoscopic findings between the two brothers.

Adolescent↗

PubMed1981

Contrast sensitivity in retinitis pigmentosa.

Arden gratings were used to measure contrast sensitivity in 40 patients with retinitis pigmentosa whose Snellen visual acuity was 6/12 or better. When compared with a group of 30 normal subjects the patients with retinitis pigmentosa had substantially decreased contrast sensitivity, especially at high frequencies. The Arden grating test appeared to be a sensitive test of abnormal central visual function in patients with retinitis pigmentosa.

Adolescent↗

PubMed2005

[Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations].

Retinitis pigmentosa (RP, prevalence 1/4000) is a set of hereditary retinal dystrophies characterized by pigment deposits in fundus and progressive death of photoreceptors, always associated with the alteration of retinal pigment epithelium. Genetic heterogeneity of the typical nonsyndromic form (rod cone dystrophy) is extensive: 11 genes and one locus were reported for autosomal dominant RP, 17 genes and five loci for autosomal recessive RP, and two genes and two loci for X-linked RP. A survey of mutation screening reports in large series of patients indicates that the frequency of mutations for all cloned genes varies from 40% to 54% of cases in autosomal dominant RP, from 17% to 24% in autosomal recessive RP (excluding the USH2A gene for which the values remain uncertain) and from 61% to 89% in X-linked RP. Very few studies report on sporadic cases except for the two X-linked genes, RP2 and RPGR, which account for 29% of sporadic cases in males. Altogether, the two most frequently involved genes are RPGR (13% of all RP cases) and RHO (4%), an important consideration for molecular diagnosis. Finally, we roughly estimate that currently known genes do not represent more than 50% of RP cases, suggesting that many genes remain to be discovered. The known genes can be classified into metabolic groups according to the encoded protein: visual transduction, visual cycle, transcription factors, structural proteins, spliceosome complex and cellular traffic, indicating the high level of specialization of photoreceptors and of the retinal pigment epithelium. In parallel with this classification, genotype/phenotype correlations have been established that will help ophthalmologists to suspect particular genes, and thereby mechanisms. This approach will provide better informations to patients and will orient the choice of future therapies.

Genotype↗

PubMed2006

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

BACKGROUND: Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most of these mutations are clustered in a 500 bp region of exon 4 of RP1. METHODS: Denaturing gradient gel electrophoresis (DGGE) analysis and direct genomic sequencing were used to evaluate the 5' coding region of exon 4 of the RP1 gene for mutations in 150 unrelated index adRP patients. Ophthalmic and electrophysiological examination of RP patients and relatives according to pre-existing protocols were carried out. RESULTS: Three novel disease-causing mutations in RP1 were detected: Q686X, K705fsX712 and K722fsX737, predicting truncated proteins. One novel missense mutation, Thr752Met, was detected in one family but the mutation does not co-segregate in the family, thereby excluding this amino acid variation in the protein as a cause of the disease. We found the Arg677Ter mutation, previously reported in other populations, in two independent families, confirming that this mutation is also present in a Spanish population. CONCLUSION: Most of the mutations reported in the RP1 gene associated with adRP are expected to encode mutant truncated proteins that are approximately one third or half of the size of wild type protein. Patients with mutations in RP1 showed mild RP with variability in phenotype severity. We also observed several cases of non-penetrant mutations.

Amino Acid Sequence↗

PubMedDate not supplied

Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide.

A case of cystoid macular edema related to retinitis pigmentosa treated with intravitreal injection of triamcinolone acetonide is described. A 30-year-old white man with retinitis pigmentosa and progressive visual loss presented with a best-corrected visual acuity of 20/40 in the right eye and 20/80 in the left eye. Examination revealed cystoid macular edema in both eyes. After failure of treatment with oral acetazolamide, intravitreal injection of 0.1 mL of triamcinolone acetonide 0.4% solution was performed in both eyes. In the left eye, macular edema resorbed and visual acuity improved to 20/50. However, 6 months after injection, visual acuity worsened because of recurrence of cystoid macular edema. In the right eye, cystoid macular edema also resorbed, but visual acuity was unchanged. Intravitreal triamcinolone acetonide may be useful for selected cases of cystoid macular edema related to retinitis pigmentosa.

Adult↗

PubMedDate not supplied

Apoptosis, retinitis pigmentosa, and degeneration.

The mechanism of photoreceptor cell death in different inherited retinal degenerations is not fully understood. Mutations in a number of different genes (such as rhodopsin, the beta subunit of cGMP phosphodiesterase, and peripherin) have been identified as the primary genetic lesion in different forms of human retinitis pigmentosa, one of the most common causes of inherited blindness. In all cases the manifestation of the disorder regardless of the specific primary genetic lesion is similar, resulting in photoreceptor cell degeneration and blindness. A recent hypothesis is that the active photoreceptor cell death, which is characteristic of these genetically distinct disorders, is mediated by a common induction of apoptosis. In the present review, the current evidence for active cell death during retinal cell death in several different rodent models of retinitis pigmentosa and retinal degeneration is examined.

Animals↗

PubMed1991

[A case of immotile cilia syndrome accompanied by retinitis pigmentosa].

A case of immotile cilia syndrome accompanied by retinitis pigmentosa is reported. This syndrome involves congenital ciliary ultrastructural abnormality. A 27-year-old male complained of repeated pneumonia, sinusitis, and middle otitis. In addition, he had sperm motor insufficiency and electron microscopic finding of cilia led to the diagnosis of the present syndrome. Both fundi presented remarkable degeneration of retinal pigment epithelium and choroid and marked arterial narrowing. Constriction of the visual field and extinguished ERG were also noted. Abnormality of cilia of the retinal pigment epithelium was suggested. It was proposed that retinitis pigmentosa may be caused by abnormal cilia of the retinal pigment epithelium.

Adult↗

PubMed2003

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

Protein conformational disorders, which include certain types of retinitis pigmentosa, are a set of inherited human diseases in which mutant proteins are misfolded and often aggregated. Many opsin mutants associated with retinitis pigmentosa, the most common being P23H, are misfolded and retained within the cell. Here, we describe a pharmacological chaperone, 11-cis-7-ring retinal, that quantitatively induces the in vivo folding of P23H-opsin. The rescued protein forms pigment, acquires mature glycosylation, and is transported to the cell surface. Additionally, we determined the temperature stability of the rescued protein as well as the reactivity of the retinal-opsin Schiff base to hydroxylamine. Our study unveils novel properties of P23H-opsin and its interaction with the chromophore. These properties suggest that 11-cis-7-ring retinal may be a useful therapeutic agent for the rescue of P23H-opsin and the prevention of retinal degeneration.

Amino Acid Sequence↗