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PubMed2005

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.

OBJECTIVE: To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. METHODS: Mutation analysis was carried out in a group of 35 unrelated patients with juvenile autosomal recessive retinitis pigmentosa (ARRP), Leber's congenital amaurosis (LCA), or juvenile isolated retinitis pigmentosa (IRP), by denaturing high performance liquid chromatography followed by direct sequencing. RESULTS: All three groups of patients showed typical combinations of eye signs associated with retinitis pigmentosa: pale optic discs, narrow arterioles, pigmentary changes, and nystagmus. Mutations were found in 34% of PATIENTS: in CRB1 (11%), GUCY2D (11%), RPE65 (6%), and RPGRIP1 (6%). Nine mutations are reported, including a new combination of two mutations in CRB1, and new mutations in GUCY2D and RPGRIP1. The new GUCY2D mutation (c.3283delC, p.Pro1069ArgfsX37) is the first pathological sequence change reported in the intracellular C-terminal domain of GUCY2D, and did not lead to the commonly associated LCA, but to a juvenile retinitis pigmentosa phenotype. The polymorphic nature of three previously described (pathological) sequence changes in AIPL1, CRB1, and RPGRIP1 was established. Seven new polymorphic changes, useful for further association studies, were found. CONCLUSIONS: New and previously described sequence changes were detected in retinitis pigmentosa in CRB1, GUCY2D, and RPGRIP1; and in LCA patients in CRB1, GUCY2D, and RPE65. These data, combined with previous reports, suggest that LCA and juvenile ARRP are closely related and belong to a continuous spectrum of juvenile retinitis pigmentosa.

Adaptor Proteins, Signal Transducing↗

PubMed1986

Carriers of X-linked retinitis pigmentosa. A fluorophotometric determination of the permeability of the blood-retinal barrier.

The blood-retinal barrier permeability to fluorescein was studied in a single family with X-linked retinitis pigmentosa by an elaborate vitreous fluorophotometric method. Affected males showed a ten times increase of permeability compared with normals. In a group of seven obligate carriers the mean permeability was significantly increased by 45% compared with the mean permeability in a group of normals. Five of the seven carriers had permeabilities higher than the normal mean permeability + 2 SD, while two carriers had a permeability within the normal mean +/- 2 SD. Thus, this study supported that carriers of X-linked retinitis pigmentosa show deterioration of the blood-retinal barrier. However, the phenomenon is not present in all carriers and the permeability cannot be used as a completely safe indicator of the carrier state.

Adolescent↗

PubMed1985

Vitreous fluorophotometry studies in retinitis pigmentosa.

Six patients with various genetic types of retinitis pigmentosa and ten carriers of the X-linked recessive type were studied by vitreous fluorophotometry. Kinetic vitreous fluorophotometry showed an alteration of the blood-retinal barrier (BRB) in patients with retinitis pigmentosa, even in those who had minimal fundoscopic abnormalities and only minor changes on the electroretinogram. Furthermore, an alteration of the BRB could be detected in the carriers of the X-linked recessive form of retinitis pigmentosa. In general, higher concentration of fluorescein in the vitreous correlated topographically with the extent of photoreceptor and retinal pigment epithelial disease, as well as with the presence of leakage from retinal capillaries.

Adolescent↗

PubMed2001

Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPase Regulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001.

Carrier Proteins↗

PubMed2001

Vitrectomy for large vitreous opacity in retinitis pigmentosa.

PURPOSE: To describe a patient with bilateral retinitis pigmentosa and visually disabling vitreous opacities, who benefited from vitrectomy in both eyes. METHODS: A 37-year-old man with retinitis pigmentosa and severely constricted visual fields developed a large, dense, vitreous floater and visual obscuration in the right eye. Subsequently, diffuse vitreous opacification and visual obscuration developed in the left eye. RESULTS: Bilateral pars plana vitrectomy relieved the patient's visual obscurations. Electron micrographs of the excised vitreous opacity from the left eye showed collagen fibrils and cellular debris. CONCLUSION: Visually significant vitreous opacities may develop as a complication of retinitis pigmentosa. The visual impact of such opacities may be magnified by its superimposition on limited visual fields. Vitrectomy may be of benefit in such cases.

Adult↗

PubMedDate not supplied

Bilateral disc edema and unilateral macular hole in a patient with retinitis pigmentosa.

PURPOSE: A unique case of retinitis pigmentosa (RP) associated with bilateral disc edema and unilateral macular hole is presented. METHODS: A 49-year-old woman, a known RP patient, was found to have bilateral disc edema and a macular hole in the left eye during routine clinical examination. Fluorescein angiography revealed hyperfluorescent leakage of the optic nerve head significantly OD and minimally OS. There was staining in the macular regions which was consistent with retinal pigment epithelium atrophy OD and cystoid macular edema (CME) OS. Cerebrospinal fluid pressure and examination by lumbar puncture was normal. Disc edema spontaneously decreased bilaterally during follow-up. DISCUSSION: Bilateral disc edema was thought to be secondary to inflammation caused by rapid degeneration of photoreceptors and retinal pigment epithelium and macular hole was secondary to CME. CONCLUSIONS: Inflammatory response in the course of retinitis pigmentosa may result in disc edema and cystoid macular edema, which may further progresses to macular hole.

Female↗

PubMed1996

Serum retinoids in retinitis pigmentosa patients treated with vitamin A.

BACKGROUND: Patients with retinitis pigmentosa have been suggested to benefit from treatment with moderate doses of retinyl palmitate. Retinyl palmitate is not an active retinoid in itself but is metabolised to active components in the body. To find out which metabolites of retinyl palmitate were formed and at which concentrations, we measured the concentrations of retinol, retinyl palmitate, retinoic acids and tocopherol in serum of patients treated with oral retinyl palmitate for retinitis pigmentosa. METHODS: Nine male patients and one female diagnosed as having retinitis pigmentosa after a complete ophthalmological examination including a full-field electroretinogram were given vitamin A at their own request as one daily morning dose of 16600 IU vitamin A. Blood samples were obtained before and after > 2 weeks of treatment. The concentrations of retinoids and tocopherol were measured with established methods. RESULTS: The patients were not deficient in vitamin A or vitamin E as judged from the serum vitamin concentrations. Treatment with retinyl palmitate significantly increased the serum concentration of retinyl palmitate and of 13-cis-retinoic acid but not of retinol, tocopherol or all-trans-retinoic acid. CONCLUSIONS: Neither retinyl palmitate nor 13-cis-retinoic acid, are known to be biologically active. However, 13-cis-retinoic acid can isomerise to the active vitamin A derivative, all-trans-retinoic acid. It is suggested that patients may be treated with a small dose of 13-cis-retinoic acid instead, to avoid the relatively long metabolic detour from retinyl palmitate.

Administration, Oral↗

PubMed2000

Selective transplantation of rods delays cone loss in a retinitis pigmentosa model.

BACKGROUND: Rod-cone retinal degenerations (retinitis pigmentosa) are typified by initial rod loss followed by secondary cone death. Rod death, predominantly caused by gene mutations expressed specifically in these cells, induces scotopic vision loss. Cone death, the overriding cause of blindness, has no current explanation. Disease progression and preliminary data suggest that cone survival depends on rods. OBJECTIVE: To establish whether rod transplantation into mutant rodless retinas could halt cone loss. METHODS: We transplanted pure sheets of rods isolated from normal-sighted mice into the subretinal space of recipient retinal degeneration mice lacking rods but possessing approximately 30% residual cones. Control animals were unoperated on or grafted with inner retinal cells from young normal donors, entire retinas from aged retinal degeneration mice, or gelatin. Two weeks after surgery, we quantified by an unbiased method the numbers of host retinal cones after immunolabeling with specific markers. RESULTS: Only mice receiving rod-rich transplants demonstrated statistically significant greater cone numbers, with rescue of 40% of host cones normally destined to die during this period. CONCLUSION: Cone survival depends specifically on rods. CLINICAL RELEVANCE: Such findings indicate that transplantation of rods could limit loss of cones, thus preserving useful vision in human retinitis pigmentosa. Arch Ophthalmol. 2000;118:807-811

Animals↗

PubMed1980

Immune reactivity to different retinal antigens in patients suffering from retinitis pigmentosa.

The immune status of patients suffering from different types of retinitis pigmentosa has been investigated. The lymphocytes of these patients could be stimulated by incubation with human soluble retinal antigens as well as with bovine rod outer segments. The results suggest the involvement of the cellular immune system in retinitis pigmentosa. The leukocyte migration inhibition test also pointed in that way, especially if bovine rhodopsin was used as the antigen. The complement fixation test suggested the presence of a nonspecific weak antibody activity in the blood of retinitis pigmentosa patients as well as of controls. This activity seemed predominantly to be directed to the insoluble fraction of human retinas. On the basis of the findings we conclude that patients suffering from retinitis pigmentosa may become sensitized to retinal antigens, especially to those localized in the rod outer segments. This sensitization concerns the cell-mediated immune system and seems not to be correlated with a special type of the disease.

Adolescent↗

PubMed1991

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

The group of retinopathies termed retinitis pigmentosa (RP) greatly contribute to visual dysfunction in man with a frequency of roughly 1 in 4,000. We mapped the first autosomal dominant RP (adRP) gene to chromosome 3q, close to the gene encoding rhodopsin, a rod photoreceptor pigment protein. Subsequently, mutations in this gene have been implicated as responsible for some forms of adRP. Another adRP gene has been mapped to chromosome 8p. A third adRP gene in a large Irish pedigree has been mapped to chromosome 6p, showing tight linkage with the gene for peripherin, a photoreceptor cell-specific glycoprotein, which is thus a strong candidate for the defective gene. We have now identified a three-base-pair deletion which results in the loss of one of a pair of highly conserved cysteine residues in the predicted third transmembrane domain of peripherin. This deletion segregates with the disease phenotype but is not present in unaffected controls, and suggests that mutant peripherin gives rise to retinitis pigmentosa.

Amino Acid Sequence↗

PubMed1998

Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country.

Retinitis pigmentosa (RP) is a degenerative disorder affecting the outer segment of the retina and leading to night blindness and progressive visual field loss. The rhodopsin gene encodes a photolabile pigment located in the rod outer segments constituting around 80-90% of its protein content and is the initiation point for the visual cascade upon absorption of a single photon. Seventy-five unrelated, isolated RP families in the Basque Country, with at least one affected member, were diagnosed at our hospital after ophthalmic examination and electroretinogram analysis. The patients received genetic counselling according to their individual case based on their clinical diagnosis. The modes of inheritance found from pedigree studies were the following: 20% (15/75) were classified as autosomal dominant retinitis pigmentosa (ADRP), 17.33% (13/75) were autosomal recessive (ARRP), 2.66% (2/75) were unclassified (NC), and 60% (45/75) were sporadic cases (SCRP). From these families, 75 unrelated and affected index cases together with 22 affected relatives and 42 unaffected relatives were screened for mutations in the rhodopsin gene by GC clamped denaturing gradient gel electrophoresis. Our results showed that five ADRP, three ARRP, 15 SCRP, and one NC families had alterations in this gene. Only three of these alterations, that is 4% (3/75) (95% CL 0-8), appeared to be responsible for the disease. This represents a lower percentage than the 10% previously reported.

Electrophoresis, Polyacrylamide Gel↗

PubMed1991

[Hemodynamic findings in patients with retinitis pigmentosa].

The hemodynamic status of 26 patients with retinitis pigmentosa was examined using video fluorescein angiography. The hemorheological parameters hematocrit, plasma viscosity, erythrocyte aggregation and erythrocyte rigidity were determined. The results were compared to a matched pairs-group. Video angiography showed for retinitis pigmentosa patients a normal arm-retina time and a significant increase of the arteriovenous passage time. The rheological parameters for both groups were within the reference range. Interestingly the hemodynamic disturbance of microcirculation could be demonstrated already in early stages with no ophthalmoscopic symptoms and no atrophy of retinal vessels detectable at the time. The results indicate that disturbance of the retinal hemodynamics in early stages of retinitis pigmentosa may play a role in the pathogenesis of the disease.

Adolescent↗

PubMed1982

Absence of abnormal erythrocyte superoxide dismutase, copper, or zinc levels in patients with retinitis pigmentosa.

Blood samples obtained from 22 patients with retinitis pigmentosa, 6 unaffected family members, and 8 unrelated controls showed serum copper and zinc to be in the normal range, contrary to the results in earlier reports. Likewise no significant variation of erythrocyte superoxide dismutase (SOD) and catalase levels was found between the 3 groups or when the patients were grouped by sex, age, or genetic distribution. The SOD proteins from controls and retinitis pigmentosa patients had identical mobilities on gel electrophoresis, isoelectric points, and heat stabilities. Our studies do not support the use of copper, zinc, or SOD in the diagnosis or treatment of retinitis pigmentosa.

Adolescent↗

PubMed2000

Abnormalities in rod photoreceptors, amacrine cells, and horizontal cells in human retinas with retinitis pigmentosa.

PURPOSE: To evaluate changes in the rods and amacrine cells and horizontal cells in human retinas with retinitis pigmentosa. METHODS: Seven retinas from patient donors with retinitis pigmentosa and 14 age- and postmortem-matched normal human retinas were processed for immunocytochemistry and confocal microscopy. The following cell-specific antibodies were used: anti-rhodopsin (rods), anti-gamma-aminobutyric acid (amacrine cells), anticalbindin (cones and horizontal cells), anti-glial fibrillary acidic protein (astrocytes and reactive Müller cells), and anti-synaptophysin and anti-SV2 (synaptic vesicles). RESULTS: In retinal regions with significant photoreceptor loss, the rods, gamma-aminobutyric acid-positive amacrine cells, and calbindin-positive horizontal cells had undergone neurite sprouting. The rod, amacrine and horizontal cell neurites were associated with the surfaces of glial fibrillary acidic protein-immunoreactive Müller cells. Most rod neurites that projected into the inner retina contacted the somata of gamma-aminobutyric acid-positive amacrine cells. CONCLUSIONS: Rods, amacrine and horizontal cells undergo neurite sprouting in human retinas with retinitis pigmentosa. These changes in the retinal neurons may contribute to the electroretinographic abnormalities and progressive decline in vision noted by patients with retinitis pigmentosa. These alterations may also complicate strategies for treatment of retinitis pigmentosa.

Adult↗

PubMedDate not supplied

Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.

PURPOSE: To examine rhodopsin gene mutations in Japanese patients with retinitis pigmentosa. METHODS: We performed a mutational analysis of the rhodopsin gene in 42 patients from 40 families with retinitis pigmentosa. Genomic DNA was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. Restriction enzyme analysis was performed in family members of 1 patient with a rhodopsin gene mutation (Gly106Arg) and in 100 normal individuals. RESULTS: Among the patients with retinitis pigmentosa, 3 patients in one family had a heterozygous Gly106Arg mutation of the rhodopsin gene. They had night blindness and sectorial retinal dystrophy (predominantly at the inferior fundus) in both eyes. None of the 100 individuals with normal fundi had the Gly106Arg mutation of the rhodopsin gene. CONCLUSION: The Gly106Arg mutation of the rhodopsin gene has been found in Japanese patients with sectorial retinitis pigmentosa.

Adult↗

PubMed1977

Macular lesions associated with retinitis pigmentosa.

Of 31 patients with retinitis pigmentosa, 18 (58%) had lesions of the retinal pigmentary epithelium within the maculae of both eyes. Six of the 31 patients (19%) showed macular cysts or holes (five bilateral, one unilateral) without angiographic evidence of leakage from perifoveal capillaries, while seven patients (23%) had macular cysts in both eyes associated with cystoid macular edema evident by fluorescein angiography. We believe that the macular cysts or holes were caused by changes at the vitreoretinal interface, eg, vitreous traction and preretinal membranes. Other pathologic sequences may also be responsible, such as an intrinsic increase in the permeability of retinal capillaries.

Adolescent↗

PubMed2005

Peripherin/RDS gene in Indonesian patients with retinitis pigmentosa: geographic comparison of polymorphic variations.

To analyze peripherin/RDS (retinal degeneration slow) gene alterations in Indonesian patients with retinitis pigmentosa. We examined the gene in 13 unrelated Indonesian patients with retinitis pigmentosa and in 24 normal individuals. Peripheral venous blood was extracted, and genomic DNAs were amplified by polymerase chain reaction (PCR). The PCR products were directly sequenced. Each subject underwent ocular examination. The prevalence of the gene alteration was compared to that reported in Japanese and Caucasian populations. Among 13 patients, 3 concurrently had Glu304Gln and Gly338 Asp alterations at exon 3 of the peripherin/RDS gene. Two patients had heterozygous alterations and one had a homozygous variation. The prevalence of the alterations (23%) in Indonesian patients was similar to that in Japanese patients (26%) and was lower than that in Caucasian patients (30-70%). The alterations were also observed in 7 of 24 (29%) normal healthy Indonesian individuals. Peripherin/RDS gene polymorphisms (Glu304Gln and Gly338Asp) were found in Indonesian patients with retinitis pigmentosa. The prevalence of alterations in Indonesian patients was similar to that in Japanese patients and lower than in Caucasian patients.

Amino Acid Sequence↗

PubMed1998

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.

Adolescent↗