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Quoted phrase not found in phrase index: "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"
Page 1
Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).
Murro V, Mucciolo DP, Giorgio D, Sodi A, Passerini I, Bacci G, Bargiacchi S, Virgili G, Rizzo S. Murro V, et al. Graefes Arch Clin Exp Ophthalmol. 2019 Dec;257(12):2655-2663. doi: 10.1007/s00417-019-04508-7. Epub 2019 Oct 26. Graefes Arch Clin Exp Ophthalmol. 2019. PMID: 31654189
CS were present in 15 eyes of eight patients (8/21, 38%). In all cases, CS were located in inner nuclear layer (INL); in five eyes of three patients, CS were detected also in ganglion cell layer (GCL). CS appeared as microcistoyd abnormalities and were …
CS were present in 15 eyes of eight patients (8/21, 38%). In all cases, CS were located in inner nuclear layer (INL); in five eyes of …
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG. Aleman TS, et al. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5944-54. doi: 10.1167/iovs.09-3982. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578027
Eccentric to an annular region with no discernible ONL, there could be ONL in the midperiphery. At early disease stages, ganglion cell layer thickness was less affected than ONL. Later disease stages were accompanied by inner nuclear layer and nerve fiber lay …
Eccentric to an annular region with no discernible ONL, there could be ONL in the midperiphery. At early disease stages, ganglion …
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C. Audo I, et al. Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026677
We report phenotypic and genetic characterization of a large family presenting an unusual autosomal dominant retinal dystrophy. Phenotypic characterization revealed a retinopathy dominated by inner retinal dysfunction and ganglion cell …
We report phenotypic and genetic characterization of a large family presenting an unusual autosomal dominant retinal dystrophy …