Search results for "Retinitis"
showing 10 items of 92 documents
Grosor coroideo en la retinosis pigmentaria
2013
La coroides como estructura vascular ocular, se encuentra implicada en la fisiopatología de diversas patologías oftalmológicas. Recientemente se ha observado que su espesor se encuentra alterado en diferentes enfermedades coriorretinianas, y además su flujo se encuentra reducido en la Retinosis Pigmentaria. Por lo que planteamos una tesis para el estudio del grosor coroideo en esta distrofia coriorretiniana. Los objetivos de la misma fueron determinar cuantitativamente el grosor coroideo mediante tomografía de coherencia óptica (Cirrus-HD-OCT®) en pacientes con Retinosis Pigmentaria y en sujetos sanos; y su posterior comparación entre ambos grupos. Secundariamente se analizó su posible corr…
Eye and cat scratch disease: A case series
2016
Resume Introduction La maladie des griffes du chat est une affection polymorphe, pouvant se manifester par des atteintes ophtalmologiques isolees. Nous rapportons les observations cliniques de sept cas, ayant presente une atteinte ophtalmologique posterieure de la maladie des griffes du chat. Observations Notre population comprenait sept patients, dont cinq femmes, d’âge median de 52 ans, avec une atteinte unilaterale dans trois cas. Une neuroretinite stellaire de Leber etait retrouvee chez six patients, un syndrome incomplet dans deux cas (soit un œdeme papillaire isole, soit un œdeme maculaire trainant) et associe a des foyers chorioretiniens dans un cas. Des foyers retiniens isoles ont e…
A challenging case of chorioretinitis and skin lesions in a lung transplant recipient
2018
no
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…
Rapid Regression of Exudative Maculopathy in Idiopathic Retinitis, Vasculitis, Aneurysms and Neuroretinitis Syndrome after Intravitreal Ranibizumab
2012
The idiopathic retinitis, vasculitis, aneurysms and neuroretinitis syndrome is a rare retinal vascular disorder characterized by multiple leaking aneurysmal dilations, retinal vasculitis, neuroretinitis and peripheral vascular ischemia. Visual loss mainly occurs due to the development of retinal neovascularization and/or exudative maculopathy. Although the treatment of choice has not yet been established, retinal photocoagulation seems to be the best option to control the disease and to prevent its progression. Herein, we report a case of idiopathic retinitis, vasculitis, aneurysms and neuroretinitis syndrome with both retinal neovascularization and macular exudation successfully managed wi…
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…