Results
Your Query
▶
▶
Subject | Predicate | Object |
---|---|---|
http://purl.uniprot.org/citations/22084217 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/22084217 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/22084217 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveTo characterize the visual phenotype caused by mutations in the BTB-Kelch protein, KLHL7, responsible for the RP42 form of autosomal dominant retinitis pigmentosa (RP).MethodsComprehensive ophthalmic testing included visual acuity, static visual field, kinetic visual field, dark adaptometry, full-field electroretinography, spectral-domain optical coherence tomography, and fundus photography. Longitudinal visual function data (range, 15-27 years) were available for some of the affected individuals.ResultsWe report a phenotypic assessment of 3 unrelated families, each harboring different KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A). The fundi showed classic signs of RP. Best-corrected visual acuity was 20/50 or better in at least one eye up to age 65 years. Static and kinetic visual fields showed concentric constriction to central 10° to 20° by age 65 years; 2 patients with Goldmann perimetry exhibited bilateral visual field retention in the far periphery. Both rod and cone full-field electroretinographic amplitudes were substantially lower than normal, with a decline rate of 3% per year in cone 31-Hz flicker response. Rod and cone activation and inactivation variables were abnormal. Spectral-domain optical coherence tomography indicated retention of foveal inner segment-outer segment junction through age 65 years.ConclusionsMutations in KLHL7 are associated with a late-onset form of autosomal dominant retinal degeneration that preferentially affects the rod photoreceptors. Full-field electroretinographic findings, including recovery kinetics, are consistent with those observed in other forms of autosomal dominant RP.Clinical relevanceThe phenotypes are similar among patients with 3 types of KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A). Strong retention of foveal function and bilateral concentric constriction of visual fields with far periphery sparing may guide mutation screening in autosomal dominant RP."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.org/dc/terms/identifier | "doi:10.1001/archophthalmol.2011.307"xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.org/dc/terms/identifier | "doi:10.1001/archophthalmol.2011.307"xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Klein M."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Klein M."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Wen Y."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Wen Y."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Birch D.G."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Birch D.G."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Locke K.G."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Locke K.G."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Bowne S.J."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Bowne S.J."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Daiger S.P."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Daiger S.P."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Sullivan L.S."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Sullivan L.S."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Hughbanks-Wheaton D.K."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Hughbanks-Wheaton D.K."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Ray J.W."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/author | "Ray J.W."xsd:string |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
http://purl.uniprot.org/citations/22084217 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |