FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1591005035> ?p ?o ?g. }

• W1591005035 abstract "To describe the clinical and molecular characteristics of two families with autosomal dominant Best disease and atypical electrooculography (EOG).Four affected individuals from two families were ascertained. Detailed ophthalmic examinations, refraction, and biometry (anterior chamber depth [ACD] and axial length [AL]), gonioscopy, optical coherence tomography of the anterior segment and retina, retinal imaging, and electrophysiological assessment were performed. Arden ratios from EOG testing were calculated by direct measurement of the light peak to dark trough amplitudes. Mutations in bestrophin 1 (BEST1) were identified by bidirectional Sanger sequencing. In family 1, segregation of BEST1 alleles was performed by assaying four microsatellite markers (D11S935, D11S4102, D11S987, and D11S4162) that flank BEST1.The proband from family 1 (three of four siblings affected with Best disease) was 42 years old with bilateral macular vitelliform lesions, advanced angle closure glaucoma (ACG), a normal electroretinogram, and no EOG light rise. Her 44-year-old brother had similar fundus appearances and an EOG light rise of 170%. Their 48-year-old sister had a normal left fundus, whereas the right fundus showed a vitelliform lesion and subretinal thickening. There was no EOG light rise detectable from either eye. Mutation analysis of BEST1 showed all affected siblings to be heterozygous for a missense mutation, c.914T>C, p.Phe305Ser. Their unaffected sister had an EOG light rise of 200%, a normal fundus appearance, and did not harbor the BEST1 mutation. Haplotype analysis of family 1 showed that the affected brother with the 170% EOG light rise had inherited the same nondiseased parental BEST1 allele as his unaffected sister. The other two affected sisters with undetectable EOG light rises shared a different nondiseased parental BEST1 allele. An unrelated 53-year-old female carrying the same c.914T>C, p.Phe305Ser mutation showed typical features of Best disease and an EOG light rise of 180%. All four siblings from family 1 had shorter axial biometry (ACD range 2.06-2.74 mm; AL range 20.46-22.60 mm) than the normal population, contributing to their risk of ACG development. Proband 2 had deeper ACDs (2.83 mm OD and 2.85 mm OS), but similar ALs (21.52 mm OD and 21.42 mm OS) compared to family 1. She had no gonioscopic evidence of angle closure.A near normal EOG light rise is uncommon in molecularly confirmed Best disease, and in the present report is associated with the same mutation in two families, suggesting a specific role for this amino acid in the retinal pigment epithelium dysfunction associated with this disorder. Haplotype analysis in family 1 was consistent with an effect of the nondisease allele in mediating the presence of an EOG light rise. Clinical assessment of ACG risk is recommended for BEST1 mutation carriers and their first degree relatives." @default.
• W1591005035 created "2016-06-24" @default.
• W1591005035 creator A5022124013 @default.
• W1591005035 creator A5026315368 @default.
• W1591005035 creator A5037247436 @default.
• W1591005035 creator A5048860979 @default.
• W1591005035 creator A5052642045 @default.
• W1591005035 creator A5079464717 @default.
• W1591005035 creator A5090291315 @default.
• W1591005035 creator A5091082633 @default.
• W1591005035 date "2011-01-01" @default.
• W1591005035 modified "2023-09-27" @default.
• W1591005035 title "Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study." @default.
• W1591005035 cites W1501706589 @default.
• W1591005035 cites W1540945305 @default.
• W1591005035 cites W1973035180 @default.
• W1591005035 cites W1974081828 @default.
• W1591005035 cites W1974626059 @default.
• W1591005035 cites W1975159293 @default.
• W1591005035 cites W1983131806 @default.
• W1591005035 cites W1989746623 @default.
• W1591005035 cites W1997696781 @default.
• W1591005035 cites W2006221881 @default.
• W1591005035 cites W2007515473 @default.
• W1591005035 cites W2009738449 @default.
• W1591005035 cites W2014117024 @default.
• W1591005035 cites W2020892111 @default.
• W1591005035 cites W2029913901 @default.
• W1591005035 cites W2035663096 @default.
• W1591005035 cites W2039527297 @default.
• W1591005035 cites W2040432339 @default.
• W1591005035 cites W2045434687 @default.
• W1591005035 cites W2046396053 @default.
• W1591005035 cites W2046497474 @default.
• W1591005035 cites W2063403129 @default.
• W1591005035 cites W2071123787 @default.
• W1591005035 cites W2073522690 @default.
• W1591005035 cites W2083380267 @default.
• W1591005035 cites W2097664895 @default.
• W1591005035 cites W2100578474 @default.
• W1591005035 cites W2100811216 @default.
• W1591005035 cites W2109247745 @default.
• W1591005035 cites W2115842655 @default.
• W1591005035 cites W2118219048 @default.
• W1591005035 cites W2126930913 @default.
• W1591005035 cites W2127536770 @default.
• W1591005035 cites W2128363942 @default.
• W1591005035 cites W2128418445 @default.
• W1591005035 cites W2136685735 @default.
• W1591005035 cites W2139309081 @default.
• W1591005035 cites W2145359963 @default.
• W1591005035 cites W2150877325 @default.
• W1591005035 cites W2155373232 @default.
• W1591005035 cites W2159711009 @default.
• W1591005035 cites W2167274210 @default.
• W1591005035 cites W2170208972 @default.
• W1591005035 cites W2398919417 @default.
• W1591005035 cites W51800056 @default.
• W1591005035 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3171497" @default.
• W1591005035 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21921978" @default.
• W1591005035 hasPublicationYear "2011" @default.
• W1591005035 type Work @default.
• W1591005035 sameAs 1591005035 @default.
• W1591005035 citedByCount "8" @default.
• W1591005035 countsByYear W15910050352014 @default.
• W1591005035 countsByYear W15910050352015 @default.
• W1591005035 countsByYear W15910050352017 @default.
• W1591005035 countsByYear W15910050352019 @default.
• W1591005035 crossrefType "journal-article" @default.
• W1591005035 hasAuthorship W1591005035A5022124013 @default.
• W1591005035 hasAuthorship W1591005035A5026315368 @default.
• W1591005035 hasAuthorship W1591005035A5037247436 @default.
• W1591005035 hasAuthorship W1591005035A5048860979 @default.
• W1591005035 hasAuthorship W1591005035A5052642045 @default.
• W1591005035 hasAuthorship W1591005035A5079464717 @default.
• W1591005035 hasAuthorship W1591005035A5090291315 @default.
• W1591005035 hasAuthorship W1591005035A5091082633 @default.
• W1591005035 hasConcept C104317684 @default.
• W1591005035 hasConcept C118487528 @default.
• W1591005035 hasConcept C153050134 @default.
• W1591005035 hasConcept C2776391266 @default.
• W1591005035 hasConcept C2778527774 @default.
• W1591005035 hasConcept C2778681526 @default.
• W1591005035 hasConcept C2780892088 @default.
• W1591005035 hasConcept C501734568 @default.
• W1591005035 hasConcept C54355233 @default.
• W1591005035 hasConcept C71924100 @default.
• W1591005035 hasConcept C75563809 @default.
• W1591005035 hasConcept C76818968 @default.
• W1591005035 hasConcept C86803240 @default.
• W1591005035 hasConceptScore W1591005035C104317684 @default.
• W1591005035 hasConceptScore W1591005035C118487528 @default.
• W1591005035 hasConceptScore W1591005035C153050134 @default.
• W1591005035 hasConceptScore W1591005035C2776391266 @default.
• W1591005035 hasConceptScore W1591005035C2778527774 @default.
• W1591005035 hasConceptScore W1591005035C2778681526 @default.
• W1591005035 hasConceptScore W1591005035C2780892088 @default.
• W1591005035 hasConceptScore W1591005035C501734568 @default.
• W1591005035 hasConceptScore W1591005035C54355233 @default.
• W1591005035 hasConceptScore W1591005035C71924100 @default.

• next