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Results for “Retinitis Pigmentosa”

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At least 19 recordsLinked to original sources
PubMed2026

Targeted insertion of an optimized donor DNA is effective in a humanized mouse model of dominant retinitis pigmentosa.

Retinitis pigmentosa (RP) affects 1 in 3,000 individuals worldwide, with 30%-40% of cases inherited as autosomal dominant (AD). Mutations in RHO (RP4) are the most common cause of ADRP. Because most RHO mutations exert gain-of-function or dominant-negative effects, conventional gene supplementation is insufficient, requiring mutant allele inactivation. Allele-specific editing is impractical, as each mutation requires a unique therapeutic strategy. We present a mutation-agnostic, RHO-specific approach using adeno-associated viral vector-mediated homology-independent targeted integration (AAV-HITI). Optimized donor DNA design enables targeted integration and efficient transgene expression from the endogenous RHO locus. In a humanized RP4 mouse model harboring the RHO P23H mutant allele alongside an endogenous wild-type mouse Rho allele, AAV-HITI significantly improves retinal structure, function, and visual acuity up to 1 year post-treatment. Comprehensive molecular analyses characterize on-target editing in mouse retina and off-target editing in a human cell line. These findings establish an effective, human-centric AAV-HITI platform for RP4 and support its evaluation in this and other dominant genetic conditions.

AAV↗
PubMed1978

Retinitis pigmentosa and retinal oedema.

Twenty-five patients with retinitis pigmentosa and retinal leakage were investigated. Oedema was present in dominant and X-linked inherited disease and is likely to be present in recessive disease as well. We suggest that this might be a general response seen in many types of tapeto-retinal degeneration to actively degenerating photoreceptors or pigment epithelium.

Adult↗
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↗
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↗
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↗
PubMed2025

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.

PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous group of retinal degenerative disorders characterized by the loss of rod and cone photoreceptors, leading to visual impairment and blindness. To date, to our knowledge, X-linked RP has been associated with variants in 3 genes (RPGR, RP2, and OFD1), whereas genetic defects at 3 loci (RP6, RP24, and RP34) are yet unidentified. The aim of this study was to identify a novel candidate gene underlying X-linked RP. METHODS: Participants were identified from cohorts of genetically unsolved male individuals affected by RP, who underwent genome sequencing, exome sequencing, or candidate gene screening via direct Sanger sequencing at 3 referral centers. Specifically, 2 probands were identified at the National Reference Centre for Rare Retinal Diseases (Paris, France), 2 at the Massachusetts Eye and Ear Hospital (Boston, MA), and 1 at the National Reference Centre for Inherited Sensory Diseases (Montpellier, France). The pathogenicity of the identified variants was assessed using bioinformatic predictions, protein expression analyses, and mitochondrial function assays. RESULTS: We identified 4 rare single-nucleotide variants in IDH3G (HGNC:5386), located at the RP34 locus on the X chromosome, and a complete gene deletion, in 5 unrelated male individuals affected with nonsyndromic RP. The variants segregated with the phenotype in all available family members. In all cases, the disease severity was intermediate. None had high myopia. IDH3G encodes the γ subunit of mitochondrial isocitrate dehydrogenase (IDH3), an enzyme involved in the citric acid cycle, which is expressed in the inner segments of photoreceptors. Variants in IDH3A and IDH3B, encoding the other subunits of IDH3, have already been associated with nonsyndromic autosomal recessive RP. Bioinformatic predictions and functional assays support a pathogenic role for the variants identified in this study, possibly through partial loss of enzymatic activity and mitochondrial function. CONCLUSION: Our findings suggest that variants in IDH3G are a novel cause of X-linked RP.

Humans↗
PubMed1977

Clinical copper metabolism parameters in patients with retinitis pigmentosa and other tapeto-retinal degenerations.

Reports have appeared of abnormal copper metabolism in retinitis pigmentosa, and of a family with vitelliform retinal degeneration in which other members suffered from hepatolenticular degeneration. In the present study 15 patients with retinitis pigmentosa, 4 with various other retinal degenerations, and 1 with a family disposition to retinitis pigmentosa were examined. The copper concentration in serum and the coeruloplasmin concentration in plasma were found to be within normal limits. In 9 of the patients with retinitis pigmentosa the urinary excretion of copper per 24 hours was determined and was found to be normal. The results of the present study lend no support to the hypothesis of abnormal copper metabolism in retinitis pigmentosa.

Adolescent↗
PubMed2024

Retinal Proteome Profiling of Inherited Retinal Degeneration Across Three Different Mouse Models Suggests Common Drug Targets in Retinitis Pigmentosa.

Inherited retinal degenerations (IRDs) are a leading cause of blindness among the population of young people in the developed world. Approximately half of IRDs initially manifest as gradual loss of night vision and visual fields, characteristic of retinitis pigmentosa (RP). Due to challenges in genetic testing, and the large heterogeneity of mutations underlying RP, targeted gene therapies are an impractical largescale solution in the foreseeable future. For this reason, identifying key pathophysiological pathways in IRDs that could be targets for mutation-agnostic and disease-modifying therapies (DMTs) is warranted. In this study, we investigated the retinal proteome of three distinct IRD mouse models, in comparison to sex- and age-matched wild-type mice. Specifically, we used the Pde6βRd10 (rd10) and RhoP23H/WT (P23H) mouse models of autosomal recessive and autosomal dominant RP, respectively, as well as the Rpe65-/- mouse model of Leber's congenital amaurosis type 2 (LCA2). The mice were housed at two distinct institutions and analyzed using LC-MS in three separate facilities/instruments following data-dependent and data-independent acquisition modes. This cross-institutional and multi-methodological approach signifies the reliability and reproducibility of the results. The large-scale profiling of the retinal proteome, coupled with in vivo electroretinography recordings, provided us with a reliable basis for comparing the disease phenotypes and severity. Despite evident inflammation, cellular stress, and downscaled phototransduction observed consistently across all three models, the underlying pathologies of RP and LCA2 displayed many differences, sharing only four general KEGG pathways. The opposite is true for the two RP models in which we identify remarkable convergence in proteomic phenotype even though the mechanism of primary rod death in rd10 and P23H mice is different. Our data highlights the cAMP and cGMP second-messenger signaling pathways as potential targets for therapeutic intervention. The proteomic data is curated and made publicly available, facilitating the discovery of universal therapeutic targets for RP.

Animals↗
PubMed1978

Refractive errors of retinitis pigmentosa patients.

A retinitis pigmentosa (RP) population (268 eyes) had predominantly myopic refractive errors. Whereas 12% of a normal population have myopic refractions, myopia was found in 75% of 268 eyes of RP patients and in 95% of 41 eyes of X-linked RP patients. The spherical errors describe a single-peaked, skewed distribution, with a mean of -1.86 dioptres that is significantly (P less than 0.001) more myopic, by -2.93 D, than that of a normal population. The X-linked genetic group has a spherical mean of -5.51 D that is significantly (P less than 0.01) more myopic than the non-X-linked RP population. This X-linked spherical error distribution may be composed of two separate subdistributions. Astigmatic refractive errors greater than 0.5 D are found in 47% of this RP population, considerably in excess of the 19% of a normal population with such astigmatic errors.

Adolescent↗
PubMed1978

Retinitis pigmentosa and exudative vasculopathy.

A patient with bilateral retinitis pigmentosa and exudative vasculopathy was initially seen with a blind and painful left eye, which was enucleated. Results of clinical study of the right eye and histopathologic and ultrastructural study of the enucleated left eye showed the abnormal vessels to be derived from the choroidal circulation. Previous clinical reports of retinitis pigmentosa with exudative vasculopathy have described retinal vascular abnormalities similar to those found in Coats' disease. From the comparison of our case with those previously reported, we conclude that different types of exudative vasculopathy may develop in the setting of retinitis pigmentosa.

Adolescent↗
PubMed1978

Early diagnosis and evolution of dominant retinitis pigmentosa.

A 5-month-old girl with retinitis pigmentosa was the healthy offspring of a family with progressive autosomal dominant retinitis pigmentosa. Serial evaluation by both electroretinograph and ophthalmoscopy over a four-year period confirmed the diagnosis and indicated that as early as 5 months of age, electroretinographic abnormalities were present in the patient. These consisted of a reduction in the dark-adapted b-wave amplitude, prominent X-wave, and no suppression of the second b-wave response to paired light stimuli at 75 msec. Progressive reduction in the scotopic electroretinography amplitude has occurred over the ensuing four years, although light-adapted (cone) function still appears normal. Clinical evidence of retinitis pigmentosa became apparent only late in the patient's third year when fine peripheral pigment clumping and vessel attentuation could be seen.

Adolescent↗
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↗
PubMed1978

Rhodopsin and visual threshold in retinitis pigmentosa.

Rhodopsin kinetics and visual threshold were determined in three subjects with a dominant form of retinitis pigmentosa. The retinal areas studied showed varying loss of sensitivity, which correlated well with the reduction in the measured density of rhodopsin in the test region. Rhodopsin photosensitivity was normal, and there was no evidence that either rhodopsin or the cone pigments regenerated more rapidly than normal. The findings in these cases of retinitis pigmentosa, when compared with the threshold changes induced by vitamin A deficiency or photic bleaching, suggest that the disease produces an imbalance between disc removal and new disc formation, which results in a progressive shortening of the photoreceptor outer segments and, eventually, in their complete disappearance.

Adult↗