FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024451057> ?p ?o ?g. }

• W2024451057 endingPage "141.e1" @default.
• W2024451057 startingPage "134" @default.
• W2024451057 abstract "Purpose The only mutations reported to date in Japanese patients with Oguchi disease, a rare form of stationary night blindness with autosomal recessive transmission, have been in the SAG (arrestin) gene. The objective of this study was to describe the ophthalmic features and a novel mutation in the GRK1 (rhodopsin kinase) gene in 2 Japanese patients with Oguchi disease. Design Molecular genetic and observational case study. Participants A consanguineous family including 2 siblings with Oguchi disease (a 35-year-old man and a 31-year-old woman). Methods Best-corrected visual acuity (BCVA), fundus examinations, Goldmann perimetry, color vision tests, and full-field electroretinograms (ERGs) were evaluated. Mutation screening of the SAG and GRK1 genes was performed with polymerase chain reaction amplification and direct sequencing. Main Outcome Measures Mutations in the GRK1 gene, BCVA, color vision, fundus photographs, visual fields, and ERG findings. Results Molecular analysis revealed a novel homozygous missense mutation (p.P391H) in the GRK1 gene in both patients. Proline 391 is not only within the functionally important catalytic domain, but is also a phylogenetically conserved amino acid residue among GRK1 orthologs and homologs. No mutation was found in the SAG gene. The unaffected parents were heterozygous carriers of the mutation. Both patients had night blindness, 1.5 BCVA for each eye, normal color vision, and typical fundus appearance with golden-yellow discoloration. The visual fields were normal in the male sibling. The ERGs showed no rod B waves, reduced standard combined responses, and markedly reduced single-flash cone and 30-Hz flicker responses in both patients. Conclusions A novel homozygous GRK1 mutation (p.P391H) was found in 2 Japanese siblings with Oguchi disease. Visual function in the 2 patients has not deteriorated with age, indicating that the disease is stationary. This is the first report of any patient with GRK1-associated Oguchi disease with markedly reduced cone responses. The only mutations reported to date in Japanese patients with Oguchi disease, a rare form of stationary night blindness with autosomal recessive transmission, have been in the SAG (arrestin) gene. The objective of this study was to describe the ophthalmic features and a novel mutation in the GRK1 (rhodopsin kinase) gene in 2 Japanese patients with Oguchi disease. Molecular genetic and observational case study. A consanguineous family including 2 siblings with Oguchi disease (a 35-year-old man and a 31-year-old woman). Best-corrected visual acuity (BCVA), fundus examinations, Goldmann perimetry, color vision tests, and full-field electroretinograms (ERGs) were evaluated. Mutation screening of the SAG and GRK1 genes was performed with polymerase chain reaction amplification and direct sequencing. Mutations in the GRK1 gene, BCVA, color vision, fundus photographs, visual fields, and ERG findings. Molecular analysis revealed a novel homozygous missense mutation (p.P391H) in the GRK1 gene in both patients. Proline 391 is not only within the functionally important catalytic domain, but is also a phylogenetically conserved amino acid residue among GRK1 orthologs and homologs. No mutation was found in the SAG gene. The unaffected parents were heterozygous carriers of the mutation. Both patients had night blindness, 1.5 BCVA for each eye, normal color vision, and typical fundus appearance with golden-yellow discoloration. The visual fields were normal in the male sibling. The ERGs showed no rod B waves, reduced standard combined responses, and markedly reduced single-flash cone and 30-Hz flicker responses in both patients. A novel homozygous GRK1 mutation (p.P391H) was found in 2 Japanese siblings with Oguchi disease. Visual function in the 2 patients has not deteriorated with age, indicating that the disease is stationary. This is the first report of any patient with GRK1-associated Oguchi disease with markedly reduced cone responses." @default.
• W2024451057 created "2016-06-24" @default.
• W2024451057 creator A5005339004 @default.
• W2024451057 creator A5013327048 @default.
• W2024451057 creator A5024118042 @default.
• W2024451057 creator A5029199190 @default.
• W2024451057 creator A5062071936 @default.
• W2024451057 date "2007-01-01" @default.
• W2024451057 modified "2023-09-26" @default.
• W2024451057 title "A Novel Homozygous GRK1 Mutation (P391H) in 2 Siblings with Oguchi Disease with Markedly Reduced Cone Responses" @default.
• W2024451057 cites W1966274714 @default.
• W2024451057 cites W1974112901 @default.
• W2024451057 cites W1980872741 @default.
• W2024451057 cites W1986048756 @default.
• W2024451057 cites W1993059232 @default.
• W2024451057 cites W2010900542 @default.
• W2024451057 cites W2011372261 @default.
• W2024451057 cites W2012304711 @default.
• W2024451057 cites W2012652285 @default.
• W2024451057 cites W2013596647 @default.
• W2024451057 cites W2027809481 @default.
• W2024451057 cites W2028253770 @default.
• W2024451057 cites W2037458235 @default.
• W2024451057 cites W2038890593 @default.
• W2024451057 cites W2055015132 @default.
• W2024451057 cites W2055096600 @default.
• W2024451057 cites W2056419220 @default.
• W2024451057 cites W2058718254 @default.
• W2024451057 cites W2064477711 @default.
• W2024451057 cites W2065707503 @default.
• W2024451057 cites W2072771599 @default.
• W2024451057 cites W2074318992 @default.
• W2024451057 cites W2075026362 @default.
• W2024451057 cites W2076813807 @default.
• W2024451057 cites W2083157639 @default.
• W2024451057 cites W2088491145 @default.
• W2024451057 cites W2092674368 @default.
• W2024451057 cites W2103839548 @default.
• W2024451057 cites W2111637908 @default.
• W2024451057 cites W2121269254 @default.
• W2024451057 cites W2132784286 @default.
• W2024451057 cites W2138580029 @default.
• W2024451057 cites W2138941942 @default.
• W2024451057 cites W2140107851 @default.
• W2024451057 cites W2155252920 @default.
• W2024451057 cites W2164468733 @default.
• W2024451057 doi "https://doi.org/10.1016/j.ophtha.2006.05.069" @default.
• W2024451057 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17070587" @default.
• W2024451057 hasPublicationYear "2007" @default.
• W2024451057 type Work @default.
• W2024451057 sameAs 2024451057 @default.
• W2024451057 citedByCount "38" @default.
• W2024451057 countsByYear W20244510572012 @default.
• W2024451057 countsByYear W20244510572013 @default.
• W2024451057 countsByYear W20244510572014 @default.
• W2024451057 countsByYear W20244510572015 @default.
• W2024451057 countsByYear W20244510572016 @default.
• W2024451057 countsByYear W20244510572017 @default.
• W2024451057 countsByYear W20244510572018 @default.
• W2024451057 countsByYear W20244510572019 @default.
• W2024451057 countsByYear W20244510572020 @default.
• W2024451057 countsByYear W20244510572021 @default.
• W2024451057 countsByYear W20244510572022 @default.
• W2024451057 crossrefType "journal-article" @default.
• W2024451057 hasAuthorship W2024451057A5005339004 @default.
• W2024451057 hasAuthorship W2024451057A5013327048 @default.
• W2024451057 hasAuthorship W2024451057A5024118042 @default.
• W2024451057 hasAuthorship W2024451057A5029199190 @default.
• W2024451057 hasAuthorship W2024451057A5062071936 @default.
• W2024451057 hasConcept C104317684 @default.
• W2024451057 hasConcept C118487528 @default.
• W2024451057 hasConcept C2776391266 @default.
• W2024451057 hasConcept C2779113765 @default.
• W2024451057 hasConcept C2780827179 @default.
• W2024451057 hasConcept C2781040256 @default.
• W2024451057 hasConcept C2781114197 @default.
• W2024451057 hasConcept C2983470273 @default.
• W2024451057 hasConcept C2994225774 @default.
• W2024451057 hasConcept C31972630 @default.
• W2024451057 hasConcept C41008148 @default.
• W2024451057 hasConcept C501734568 @default.
• W2024451057 hasConcept C54355233 @default.
• W2024451057 hasConcept C71924100 @default.
• W2024451057 hasConcept C75563809 @default.
• W2024451057 hasConcept C86803240 @default.
• W2024451057 hasConceptScore W2024451057C104317684 @default.
• W2024451057 hasConceptScore W2024451057C118487528 @default.
• W2024451057 hasConceptScore W2024451057C2776391266 @default.
• W2024451057 hasConceptScore W2024451057C2779113765 @default.
• W2024451057 hasConceptScore W2024451057C2780827179 @default.
• W2024451057 hasConceptScore W2024451057C2781040256 @default.
• W2024451057 hasConceptScore W2024451057C2781114197 @default.
• W2024451057 hasConceptScore W2024451057C2983470273 @default.
• W2024451057 hasConceptScore W2024451057C2994225774 @default.
• W2024451057 hasConceptScore W2024451057C31972630 @default.
• W2024451057 hasConceptScore W2024451057C41008148 @default.
• W2024451057 hasConceptScore W2024451057C501734568 @default.
• W2024451057 hasConceptScore W2024451057C54355233 @default.

• next