Matches in SemOpenAlex for { <https://semopenalex.org/work/W2973285551> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W2973285551 endingPage "75" @default.
- W2973285551 startingPage "67" @default.
- W2973285551 abstract "This study reports the ophthalmic and genetic findings of a Cameroonian patient with autosomal recessive retinitis pigmentosa (arRP) caused by a novel Receptor Expression Enhancing Protein 6 (REEP6) homozygous mutation. A 33-year-old man underwent comprehensive ophthalmic examinations, including visual acuity measurements, dilated fundus imaging, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Short-wavelength fundus autofluorescence (SW-AF) and near-infrared fundus autofluorescence (NIR-AF) were also evaluated. Whole exome sequencing (WES) was used to identify potential pathogenic variants. Fundus examination revealed typical RP findings with additional temporal ten micron yellow dots. SD-OCT imaging revealed cystoid macular edema and perifoveal outer retinal atrophy with centrally preserved inner segment ellipsoid zone (EZ) bands. Hyperreflective spots were seen in the inner retinal layers. On SW-AF images, a hypoautofluorescent area in the perifoveal area was observed. NIR-AF imaging revealed an irregularly shaped hyperautofluorescent ring. His visual acuity was mildly affected. ERG showed undetectable rod responses and intact cone responses. Genetic testing via WES revealed a novel homozygous mutation (c.295G>A, p.Glu99Lys) in the gene encoding REEP6, which is predicted to alter the charge in the transmembrane helix. This report is not only the first description of a Cameroonian patient with arRP associated with a REEP6 mutation, but also this particular genetic alteration. Substitution of p.Glu99Lys in REEP6 likely disrupts the interactions between REEP6 and the ER membrane. NIR-AF imaging may be particularly useful for assessing functional photoreceptor cells and show an “avocado” pattern of hyperautofluorescence in patients with the REEP6 mutation." @default.
- W2973285551 created "2019-09-26" @default.
- W2973285551 creator A5001466650 @default.
- W2973285551 creator A5004324879 @default.
- W2973285551 creator A5030588350 @default.
- W2973285551 creator A5042864649 @default.
- W2973285551 creator A5053933172 @default.
- W2973285551 creator A5056799905 @default.
- W2973285551 creator A5057464344 @default.
- W2973285551 creator A5057797164 @default.
- W2973285551 creator A5071470775 @default.
- W2973285551 date "2019-09-19" @default.
- W2973285551 modified "2023-10-17" @default.
- W2973285551 title "Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa" @default.
- W2973285551 cites W2004361183 @default.
- W2973285551 cites W2048505879 @default.
- W2973285551 cites W2051978340 @default.
- W2973285551 cites W2084726394 @default.
- W2973285551 cites W2091989935 @default.
- W2973285551 cites W2106882534 @default.
- W2973285551 cites W2129804246 @default.
- W2973285551 cites W2152770371 @default.
- W2973285551 cites W2161237773 @default.
- W2973285551 cites W2179516852 @default.
- W2973285551 cites W2319294900 @default.
- W2973285551 cites W2521479067 @default.
- W2973285551 cites W2551680432 @default.
- W2973285551 cites W2602214430 @default.
- W2973285551 cites W2611938427 @default.
- W2973285551 cites W2768054374 @default.
- W2973285551 cites W2794919915 @default.
- W2973285551 cites W2809293496 @default.
- W2973285551 cites W2885683872 @default.
- W2973285551 cites W2897439586 @default.
- W2973285551 cites W3188379877 @default.
- W2973285551 cites W4211099883 @default.
- W2973285551 cites W4211196614 @default.
- W2973285551 doi "https://doi.org/10.1007/s10633-019-09719-1" @default.
- W2973285551 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7310602" @default.
- W2973285551 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31538292" @default.
- W2973285551 hasPublicationYear "2019" @default.
- W2973285551 type Work @default.
- W2973285551 sameAs 2973285551 @default.
- W2973285551 citedByCount "6" @default.
- W2973285551 countsByYear W29732855512021 @default.
- W2973285551 countsByYear W29732855512022 @default.
- W2973285551 countsByYear W29732855512023 @default.
- W2973285551 crossrefType "journal-article" @default.
- W2973285551 hasAuthorship W2973285551A5001466650 @default.
- W2973285551 hasAuthorship W2973285551A5004324879 @default.
- W2973285551 hasAuthorship W2973285551A5030588350 @default.
- W2973285551 hasAuthorship W2973285551A5042864649 @default.
- W2973285551 hasAuthorship W2973285551A5053933172 @default.
- W2973285551 hasAuthorship W2973285551A5056799905 @default.
- W2973285551 hasAuthorship W2973285551A5057464344 @default.
- W2973285551 hasAuthorship W2973285551A5057797164 @default.
- W2973285551 hasAuthorship W2973285551A5071470775 @default.
- W2973285551 hasBestOaLocation W29732855512 @default.
- W2973285551 hasConcept C104317684 @default.
- W2973285551 hasConcept C2781114197 @default.
- W2973285551 hasConcept C501734568 @default.
- W2973285551 hasConcept C54355233 @default.
- W2973285551 hasConcept C71924100 @default.
- W2973285551 hasConcept C86803240 @default.
- W2973285551 hasConceptScore W2973285551C104317684 @default.
- W2973285551 hasConceptScore W2973285551C2781114197 @default.
- W2973285551 hasConceptScore W2973285551C501734568 @default.
- W2973285551 hasConceptScore W2973285551C54355233 @default.
- W2973285551 hasConceptScore W2973285551C71924100 @default.
- W2973285551 hasConceptScore W2973285551C86803240 @default.
- W2973285551 hasFunder F4320306811 @default.
- W2973285551 hasFunder F4320313691 @default.
- W2973285551 hasFunder F4320322725 @default.
- W2973285551 hasFunder F4320332161 @default.
- W2973285551 hasIssue "1" @default.
- W2973285551 hasLocation W29732855511 @default.
- W2973285551 hasLocation W29732855512 @default.
- W2973285551 hasLocation W29732855513 @default.
- W2973285551 hasOpenAccess W2973285551 @default.
- W2973285551 hasPrimaryLocation W29732855511 @default.
- W2973285551 hasRelatedWork W1971452416 @default.
- W2973285551 hasRelatedWork W2023280658 @default.
- W2973285551 hasRelatedWork W2060958215 @default.
- W2973285551 hasRelatedWork W2111879179 @default.
- W2973285551 hasRelatedWork W2149249480 @default.
- W2973285551 hasRelatedWork W2149447718 @default.
- W2973285551 hasRelatedWork W2472243061 @default.
- W2973285551 hasRelatedWork W2981539366 @default.
- W2973285551 hasRelatedWork W3205519658 @default.
- W2973285551 hasRelatedWork W40817687 @default.
- W2973285551 hasVolume "140" @default.
- W2973285551 isParatext "false" @default.
- W2973285551 isRetracted "false" @default.
- W2973285551 magId "2973285551" @default.
- W2973285551 workType "article" @default.