FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3137774532> ?p ?o ?g. }

• W3137774532 endingPage "265" @default.
• W3137774532 startingPage "252" @default.
• W3137774532 abstract "Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 geneMethods: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over three years. Visual function was assessed with full-field electroretinograms (ffERGs), kinetic and chromatic perimetry, multimodal imaging with spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) with short- (SW) and near-infrared (NIR) excitation lights and adaptive optics scanning light ophthalmoscopy (AOSLO).Results: Both siblings had a history of obesity and postaxial polydactyly; P2 had diagnoses of type 1 Diabetes Mellitus, Addison's disease, high-functioning autism-spectrum disorder and -12D myopia. Visual acuities were better than 20/30. Kinetic fields were moderately constricted. Cone-mediated ffERGs were undetectable, rod ERGs were ~80% of normal mean. Static perimetry showed severe central cone and rod dysfunction. Foveal to parafoveal hypoautofluorescence, most obvious on NIR-FAF, co-localized with outer segment shortening/loss and outer nuclear layer thinning by SD-OCT, and with reduced photoreceptors densities by AOSLO. A structural-functional dissociation was confirmed for cone- and rod-mediated parameters. Worsening of the above abnormalities was documented by SD-OCT and FAF in P2 at 3 years. Gene screening identified compound heterozygous mutations in BBS7 (p.Val266Glu: c.797 T > A of maternal origin; c.1781_1783delCAT, paternal) in both patients.Conclusions: BBS7-associated retinal degeneration may present as a progressive cone-rod dystrophy pattern, reminiscent of both the murine and non-human primate models of the disease. Predominantly central retinal abnormalities in both cone and rod photoreceptors showed a structural-functional dissociation, an ideal scenario for gene augmentation treatments." @default.
• W3137774532 created "2021-03-29" @default.
• W3137774532 creator A5009054933 @default.
• W3137774532 creator A5012724884 @default.
• W3137774532 creator A5026409360 @default.
• W3137774532 creator A5034398235 @default.
• W3137774532 creator A5051555445 @default.
• W3137774532 creator A5068057503 @default.
• W3137774532 creator A5089359101 @default.
• W3137774532 creator A5090252288 @default.
• W3137774532 date "2021-03-17" @default.
• W3137774532 modified "2023-10-17" @default.
• W3137774532 title "Bardet-Biedl syndrome-7 (<i>BBS7</i>) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model" @default.
• W3137774532 cites W128305080 @default.
• W3137774532 cites W1502126921 @default.
• W3137774532 cites W1541072820 @default.
• W3137774532 cites W1599796644 @default.
• W3137774532 cites W1827841506 @default.
• W3137774532 cites W1954666599 @default.
• W3137774532 cites W1965621240 @default.
• W3137774532 cites W1970127619 @default.
• W3137774532 cites W1973908083 @default.
• W3137774532 cites W1975847080 @default.
• W3137774532 cites W1976041506 @default.
• W3137774532 cites W1976846514 @default.
• W3137774532 cites W1980311612 @default.
• W3137774532 cites W1985283672 @default.
• W3137774532 cites W1986956890 @default.
• W3137774532 cites W1993215762 @default.
• W3137774532 cites W1995625615 @default.
• W3137774532 cites W1998854916 @default.
• W3137774532 cites W1999988937 @default.
• W3137774532 cites W2003088834 @default.
• W3137774532 cites W2003965310 @default.
• W3137774532 cites W2005172068 @default.
• W3137774532 cites W2009262921 @default.
• W3137774532 cites W2010453646 @default.
• W3137774532 cites W2012737567 @default.
• W3137774532 cites W2022475193 @default.
• W3137774532 cites W2023628478 @default.
• W3137774532 cites W2024644086 @default.
• W3137774532 cites W2026025022 @default.
• W3137774532 cites W2030124851 @default.
• W3137774532 cites W2033798772 @default.
• W3137774532 cites W2037376925 @default.
• W3137774532 cites W2041337667 @default.
• W3137774532 cites W2041769509 @default.
• W3137774532 cites W2045547385 @default.
• W3137774532 cites W2050040558 @default.
• W3137774532 cites W2050534471 @default.
• W3137774532 cites W2052810456 @default.
• W3137774532 cites W2057802225 @default.
• W3137774532 cites W2059022308 @default.
• W3137774532 cites W2061601662 @default.
• W3137774532 cites W2063015973 @default.
• W3137774532 cites W2068607898 @default.
• W3137774532 cites W2076739581 @default.
• W3137774532 cites W2076928023 @default.
• W3137774532 cites W2079588165 @default.
• W3137774532 cites W2084726394 @default.
• W3137774532 cites W2085244007 @default.
• W3137774532 cites W2085705115 @default.
• W3137774532 cites W2086122928 @default.
• W3137774532 cites W2087344433 @default.
• W3137774532 cites W2088064021 @default.
• W3137774532 cites W2094844827 @default.
• W3137774532 cites W2100648176 @default.
• W3137774532 cites W2105465142 @default.
• W3137774532 cites W2106103098 @default.
• W3137774532 cites W2106784079 @default.
• W3137774532 cites W2107546491 @default.
• W3137774532 cites W2107785550 @default.
• W3137774532 cites W2114914263 @default.
• W3137774532 cites W2115163299 @default.
• W3137774532 cites W2115504344 @default.
• W3137774532 cites W2117508306 @default.
• W3137774532 cites W2125111380 @default.
• W3137774532 cites W2125641223 @default.
• W3137774532 cites W2136123428 @default.
• W3137774532 cites W2137418427 @default.
• W3137774532 cites W2143175476 @default.
• W3137774532 cites W2151170645 @default.
• W3137774532 cites W2153150479 @default.
• W3137774532 cites W2158088141 @default.
• W3137774532 cites W2166621376 @default.
• W3137774532 cites W2169568264 @default.
• W3137774532 cites W2228737292 @default.
• W3137774532 cites W2239132265 @default.
• W3137774532 cites W2315264211 @default.
• W3137774532 cites W2316411244 @default.
• W3137774532 cites W2318697049 @default.
• W3137774532 cites W2332643163 @default.
• W3137774532 cites W2341814054 @default.
• W3137774532 cites W2464404868 @default.
• W3137774532 cites W2548946164 @default.
• W3137774532 cites W2565182353 @default.
• W3137774532 cites W2570200456 @default.
• W3137774532 cites W2604803352 @default.

• next