Search results for "Retinitis pigmentosa"
showing 8 items of 78 documents
2020
X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. We evaluated the potential of PTC124 (Ataluren, TranslamaTM) treatment to promote ribosomal read-through of premature termination codons (PTC) in RPGR. Expression constructs in HEK293T cells showed that the efficacy of read-through reagents is higher for UGA than UAA PTCs. We identified the novel hemizygous nonsense mutation c.1154T > A, p.Leu385* (NM_000328.3) causing a UAA PTC in RPGR and generated patient-derived fibroblasts. Immunocytochemistry of serum-starved control fibroblasts showed the RPGR protein in a dot-like expression pattern along the primary…
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
2011
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…
Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa.
2006
High-resolution images in macular disorders
2021
Objective: This study analyzed and compared the results of adaptive optics (AO) and fundus autofluorescence (FAF) in various maculopathies. Methods: The study included four different types of maculopathy: central serous chorioretinopathy (CSC), retinitis pigmentosa (RP), Stargardt disease (STGD) and phototoxic retinopathy. In all four cases, cone mosaic and cone density were obtained using AO fundus camera. Further, the high-resolution images were compared with the FAF and optical coherence tomography (OCT) results. Results: In CSC, FAF and AO, changes could be shown in the macula even two years after the subretinal fluid resorption, as opposed to a normal OCT. The improvement of FAF and co…
Effects of retinotoxic drugs on rats heterozygotic for recessive retinitis pigmentosa
1971
Epidemiology of retinitis pigmentosa in the valencian community (Spain)
1995
The purposes of this study are to determine the frequencies of the different genetic forms of retinitis pigmentosa and to perform segregation analysis in the different genetic subtypes. Retinitis pigmentosa was diagnosed in 263 persons from 132 families. The frequency of the autosomal recessive type was the highest (31.8%) while the X-linked type was very rare (1.5%). The frequency of autosomal dominant type was 14.4% and the simplex cases constituted half of the total cases of RP registered in our community. In conclusion, in our population the high proportion of simplex cases and the low number of X-linked families are noticeable. The result of segregation analysis showed good agreement w…
Spotlight on fundus autofluorescence.
2018
Fundus autofluorescence (FAF) imaging is based on the fluorescence from ocular endogenous fluorophores located in the retinal pigment epithelium and choroid, mainly lipofuscin and melanin. It is a noninvasive technique that provides information about the spatial distribution of lipofuscin/melanin and retinal pigment epithelium health status. An overview about the fluorophores responsible for FAF imaging and the usefulness of FAF imaging in the noninvasive assessment and monitoring of retinal diseases, such as age-related macular degeneration, diabetic retinopathy, diabetic macular edema, central serous chorioretinopthy, retinitis pigmentosa and retinal dystrophies, are discussed in this rev…