Search results for " pigmentos"

showing 3 items of 93 documents

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…

medicine.medical_specialtyeducation.field_of_studyPediatricsEpidemiologyGenetic heterogeneityGenetic counselingPopulationBiologymedicine.diseaseValencian communityGenetic linkageEpidemiologyRetinitis pigmentosamedicineeducationAllele frequencyGenetics (clinical)DemographyGenetic Epidemiology
researchProduct

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…

medicine.medical_specialtygenetic structuresReviewLipofuscinchemistry.chemical_compoundOphthalmologyRetinitis pigmentosamedicinelipofuscinRetinal pigment epitheliumfundus autofluorescencebusiness.industrynear-infrared fundus autofluorescenceshort-wavelength fundus autofluorescenceRetinalDiabetic retinopathyMacular degenerationmedicine.diseaseSensory Systemseye diseasesmelaninOphthalmologymedicine.anatomical_structurechemistryChoroidsense organsbusinessRetinal DystrophiesClinical optometry
researchProduct

The role of electroretinography in the diagnosis and prognosis of retinitis pigmentosa.

2009

medicine.medical_specialtymedicine.diagnostic_testbusiness.industryGeneral Medicinemedicine.diseasePrognosisOphthalmologyOphthalmologyRetinitis pigmentosamedicineElectroretinographyHumansbusinessRetinitis PigmentosaElectroretinographyActa ophthalmologica. Supplementum
researchProduct