Matches in SemOpenAlex for { <https://semopenalex.org/work/W4286500675> ?p ?o ?g. }
- W4286500675 endingPage "19" @default.
- W4286500675 startingPage "19" @default.
- W4286500675 abstract "More than 200 different mutations in peripherin-2 (PRPH2) are associated with multiple subtypes of inherited retinal diseases (IRDs), including retinitis pigmentosa and cone or macular diseases. Our goal was to understand how the poorly characterized PRPH2 mutation p.Pro210Arg (P210R) affects visual function and retinal structure as well as gain insight into the mechanism driving the clinical pathology.Eleven patients had clinical assessments including best-corrected visual acuity (BCVA), full field and multifocal electroretinography (ERG), static (spot size V) and kinetic perimetry (Octopus 900), and dark-adapted chromatic (DAC; Medmont; spot size V) perimetry. Images were acquired with the Optos ultra-wide field camera and spectral-domain optical coherence tomography (SD-OCT). Molecular characteristics of the P210R mutant protein were evaluated in vitro.Patients with the P210R mutation had BCVA (Snellen) ranging from 20/15 to 20/80. Perimetry showed a reduction in sensitivity, while ERG findings suggested that cone function was more impaired than rod function. Scotomas were identified corresponding to atrophic retinal lesions. Imaging revealed heterogeneous outer retinal changes such as hyperfluorescent flecks, hypo-autofluorescence (AF) regions of atrophy, and thinning of the photoreceptor layer on SD-OCT. In vitro findings suggested that P210R-Prph2 retains the ability to interact with binding partner Rom1 but abnormally accumulates in the endoplasmic reticulum (ER), suggesting the protein does not fold properly.Rod and cone sensitivities were decreased in subjects with the P210R mutation in PRPH2. There was scotomatous vision loss that occurred within the macula, likely due to atrophy that occurs after drusen have formed and have begun to resolve. This suggests that although rod and cone photoreceptors are dependent on PRPH2, preventing blindness in this specific subgroup of patients could involve therapeutics that impede the formation or lifecycle of drusen." @default.
- W4286500675 created "2022-07-22" @default.
- W4286500675 creator A5006819390 @default.
- W4286500675 creator A5011323832 @default.
- W4286500675 creator A5019834882 @default.
- W4286500675 creator A5025204714 @default.
- W4286500675 creator A5038872556 @default.
- W4286500675 creator A5051602947 @default.
- W4286500675 creator A5060371152 @default.
- W4286500675 creator A5067392121 @default.
- W4286500675 creator A5069219360 @default.
- W4286500675 creator A5077826148 @default.
- W4286500675 creator A5078756124 @default.
- W4286500675 date "2022-07-21" @default.
- W4286500675 modified "2023-09-26" @default.
- W4286500675 title "Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in <i>Peripherin-2</i>" @default.
- W4286500675 cites W107446690 @default.
- W4286500675 cites W117237009 @default.
- W4286500675 cites W1259991921 @default.
- W4286500675 cites W1544329852 @default.
- W4286500675 cites W1584230006 @default.
- W4286500675 cites W1590141349 @default.
- W4286500675 cites W1967942686 @default.
- W4286500675 cites W1969529794 @default.
- W4286500675 cites W1971035936 @default.
- W4286500675 cites W1971710110 @default.
- W4286500675 cites W1973418075 @default.
- W4286500675 cites W1981291057 @default.
- W4286500675 cites W1982107276 @default.
- W4286500675 cites W1984343548 @default.
- W4286500675 cites W1989530688 @default.
- W4286500675 cites W1992618284 @default.
- W4286500675 cites W1993606042 @default.
- W4286500675 cites W1995776276 @default.
- W4286500675 cites W1996022909 @default.
- W4286500675 cites W2000429226 @default.
- W4286500675 cites W2003558219 @default.
- W4286500675 cites W2029441872 @default.
- W4286500675 cites W2046263355 @default.
- W4286500675 cites W2047746589 @default.
- W4286500675 cites W2048140541 @default.
- W4286500675 cites W2059671927 @default.
- W4286500675 cites W2068396294 @default.
- W4286500675 cites W2074202884 @default.
- W4286500675 cites W2081432184 @default.
- W4286500675 cites W2084726394 @default.
- W4286500675 cites W2086470900 @default.
- W4286500675 cites W2089207987 @default.
- W4286500675 cites W2091026759 @default.
- W4286500675 cites W2093669238 @default.
- W4286500675 cites W2094117679 @default.
- W4286500675 cites W2106365590 @default.
- W4286500675 cites W2108788043 @default.
- W4286500675 cites W2115715721 @default.
- W4286500675 cites W2118916169 @default.
- W4286500675 cites W2123814643 @default.
- W4286500675 cites W2124018623 @default.
- W4286500675 cites W2130322765 @default.
- W4286500675 cites W2168345599 @default.
- W4286500675 cites W2168570327 @default.
- W4286500675 cites W2337718683 @default.
- W4286500675 cites W2394556887 @default.
- W4286500675 cites W2467114002 @default.
- W4286500675 cites W2472608369 @default.
- W4286500675 cites W2569276661 @default.
- W4286500675 cites W2737092739 @default.
- W4286500675 cites W2743146037 @default.
- W4286500675 cites W277332101 @default.
- W4286500675 cites W2809790884 @default.
- W4286500675 cites W2911053805 @default.
- W4286500675 cites W2941765788 @default.
- W4286500675 cites W2990032849 @default.
- W4286500675 cites W3030388877 @default.
- W4286500675 cites W3035342229 @default.
- W4286500675 cites W3211785547 @default.
- W4286500675 cites W4229861559 @default.
- W4286500675 cites W4230825363 @default.
- W4286500675 cites W4232755209 @default.
- W4286500675 cites W4235116159 @default.
- W4286500675 cites W4241058965 @default.
- W4286500675 cites W4247214036 @default.
- W4286500675 doi "https://doi.org/10.1167/iovs.63.8.19" @default.
- W4286500675 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35861669" @default.
- W4286500675 hasPublicationYear "2022" @default.
- W4286500675 type Work @default.
- W4286500675 citedByCount "1" @default.
- W4286500675 countsByYear W42865006752023 @default.
- W4286500675 crossrefType "journal-article" @default.
- W4286500675 hasAuthorship W4286500675A5006819390 @default.
- W4286500675 hasAuthorship W4286500675A5011323832 @default.
- W4286500675 hasAuthorship W4286500675A5019834882 @default.
- W4286500675 hasAuthorship W4286500675A5025204714 @default.
- W4286500675 hasAuthorship W4286500675A5038872556 @default.
- W4286500675 hasAuthorship W4286500675A5051602947 @default.
- W4286500675 hasAuthorship W4286500675A5060371152 @default.
- W4286500675 hasAuthorship W4286500675A5067392121 @default.
- W4286500675 hasAuthorship W4286500675A5069219360 @default.
- W4286500675 hasAuthorship W4286500675A5077826148 @default.