Matches in SemOpenAlex for { <https://semopenalex.org/work/W1972965963> ?p ?o ?g. }
Showing items 1 to 57 of
57
with 100 items per page.
- W1972965963 endingPage "0" @default.
- W1972965963 startingPage "0" @default.
- W1972965963 abstract "Purpose Usher Syndrome is a genetic condition involving sensory neural hearing loss and retinitis pigmentosa (RP).RP is a heritable group of genetic diseases that is characterized by degeneration of the retinal pigment epithelium due to loss of photoreceptors, primary rods and secondary cones. Methods We present 2 familial cases, brother (48 years old) and sister (45 years old), with Usher syndrome. According to family history data their grandmother (the mother of their father) had the same disease. Results The visual acuity of the brother was pplc of both eyes, while the visual acuity of the sister was 0,1 of both eyes. Fundoscopically we observed osteoclast-like pigmentations in the posterior pole of the retina and in and around the macula lutea of both cases. In both cases we found narrowed arterioles and diffuse bilateral wax pallor of the papilla.The ERG of the both had micropotentials with lack of flicker response. The FA of both siblings – revealed dense osteoclast-like pigment in the posterior pole and the macula area. In the case of the sister through Kugel perimetry was established tunnel vision to 10o. Humphrey perimetry showed reduced retinal sensitivity in bilateral central and peripheral zone; concentric narrowing of the visual field only for the sister.In both of the cases audiogram showed high rates of sensory neural bilateral hearing decrease. Conclusion The presented two cases of Usher syndrome are a significantly rarer form of RP with probable autosomal-recessive form of inheritance. Blood for DNA analysis was taken." @default.
- W1972965963 created "2016-06-24" @default.
- W1972965963 creator A5002232462 @default.
- W1972965963 creator A5018902194 @default.
- W1972965963 creator A5076574334 @default.
- W1972965963 creator A5081266510 @default.
- W1972965963 creator A5085049973 @default.
- W1972965963 date "2014-08-20" @default.
- W1972965963 modified "2023-09-27" @default.
- W1972965963 title "Clinical presentation of a Roma family with autosomal recessive Usher Syndrome" @default.
- W1972965963 doi "https://doi.org/10.1111/j.1755-3768.2014.f022.x" @default.
- W1972965963 hasPublicationYear "2014" @default.
- W1972965963 type Work @default.
- W1972965963 sameAs 1972965963 @default.
- W1972965963 citedByCount "0" @default.
- W1972965963 crossrefType "journal-article" @default.
- W1972965963 hasAuthorship W1972965963A5002232462 @default.
- W1972965963 hasAuthorship W1972965963A5018902194 @default.
- W1972965963 hasAuthorship W1972965963A5076574334 @default.
- W1972965963 hasAuthorship W1972965963A5081266510 @default.
- W1972965963 hasAuthorship W1972965963A5085049973 @default.
- W1972965963 hasConcept C105702510 @default.
- W1972965963 hasConcept C118487528 @default.
- W1972965963 hasConcept C2776391266 @default.
- W1972965963 hasConcept C2778257484 @default.
- W1972965963 hasConcept C2780827179 @default.
- W1972965963 hasConcept C2781114197 @default.
- W1972965963 hasConcept C65691976 @default.
- W1972965963 hasConcept C71924100 @default.
- W1972965963 hasConceptScore W1972965963C105702510 @default.
- W1972965963 hasConceptScore W1972965963C118487528 @default.
- W1972965963 hasConceptScore W1972965963C2776391266 @default.
- W1972965963 hasConceptScore W1972965963C2778257484 @default.
- W1972965963 hasConceptScore W1972965963C2780827179 @default.
- W1972965963 hasConceptScore W1972965963C2781114197 @default.
- W1972965963 hasConceptScore W1972965963C65691976 @default.
- W1972965963 hasConceptScore W1972965963C71924100 @default.
- W1972965963 hasLocation W19729659631 @default.
- W1972965963 hasOpenAccess W1972965963 @default.
- W1972965963 hasPrimaryLocation W19729659631 @default.
- W1972965963 hasRelatedWork W1147953686 @default.
- W1972965963 hasRelatedWork W1996839886 @default.
- W1972965963 hasRelatedWork W2044275562 @default.
- W1972965963 hasRelatedWork W2125634959 @default.
- W1972965963 hasRelatedWork W2369759687 @default.
- W1972965963 hasRelatedWork W2416947500 @default.
- W1972965963 hasRelatedWork W2781645075 @default.
- W1972965963 hasRelatedWork W2963531218 @default.
- W1972965963 hasRelatedWork W3008592113 @default.
- W1972965963 hasRelatedWork W3029119644 @default.
- W1972965963 hasVolume "92" @default.
- W1972965963 isParatext "false" @default.
- W1972965963 isRetracted "false" @default.
- W1972965963 magId "1972965963" @default.
- W1972965963 workType "article" @default.