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Quoted phrase not found in phrase index: "Cone-rod dystrophy 24"
Page 1
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P. Almutairi F, et al. Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26. Acta Ophthalmol. 2021. PMID: 33369259 Free article. Review.
Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone-rod synaptic disease, O …
Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in a …
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO. Alsalamah AK, et al. Middle East Afr J Ophthalmol. 2020 Jul 20;27(2):86-90. doi: 10.4103/meajo.MEAJO_106_20. eCollection 2020 Apr-Jun. Middle East Afr J Ophthalmol. 2020. PMID: 32874040 Free PMC article.
The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1-related and one Oguchi disease), X-linked retinoschisis (XLRS) (one genetically confirmed and two not genetically tested), cone-rod dystrophy (one CRX-related and one no …
The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1-related and one Oguchi disease), X-linked retinosc …
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.
Hadalin V, Buscarino M, Sajovic J, Meglič A, Jarc-Vidmar M, Hawlina M, Volk M, Fakin A. Hadalin V, et al. Int J Mol Sci. 2023 Feb 14;24(4):3840. doi: 10.3390/ijms24043840. Int J Mol Sci. 2023. PMID: 36835250 Free PMC article.
Genetic characteristics and a long-term clinical follow-up of 18 Slovenian retinitis pigmentosa GTPase regulator (RPGR) patients from 10 families with retinitis pigmentosa (RP) or cone/cone-rod dystrophy (COD/CORD) are reported. RP (eight families) was …
Genetic characteristics and a long-term clinical follow-up of 18 Slovenian retinitis pigmentosa GTPase regulator (RPGR) patients from 10 fam …
Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration.
Bensinger E, Rinella N, Saud A, Loumou P, Ratnam K, Griffin S, Qin J, Porco TC, Roorda A, Duncan JL. Bensinger E, et al. Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):3187-3196. doi: 10.1167/iovs.18-26245. Invest Ophthalmol Vis Sci. 2019. PMID: 31335944 Free PMC article.
PURPOSE: To assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) followed longitudinally. ...Cone spacing Z-score may be a more sensitive measure of cone loss at the fovea than visual acuity in …
PURPOSE: To assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) fol …
Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients.
Lima LH, Zett C, Kniggendorf V, Marianelli B, de Carvalho RAP, Farah ME, Sallum JMF. Lima LH, et al. Ophthalmic Genet. 2018 Aug;39(4):492-499. doi: 10.1080/13816810.2018.1461911. Epub 2018 Apr 19. Ophthalmic Genet. 2018. PMID: 29671671
PURPOSE: To evaluate the expansion of the hyperautofluorescent ring and the retinal structure changes over time in cone-rod dystrophy (CRD) patients, using fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT). ...
PURPOSE: To evaluate the expansion of the hyperautofluorescent ring and the retinal structure changes over time in cone-rod …
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z, Xiao X, Li S, Sun W, Zhang Q. Yi Z, et al. Exp Eye Res. 2019 Dec;189:107846. doi: 10.1016/j.exer.2019.107846. Epub 2019 Oct 15. Exp Eye Res. 2019. PMID: 31626798 Free article.
The cone-rod homeobox (CRX) gene is specifically expressed in developing and mature photoreceptors and is relatively conserved, with limited polymorphisms in coding regions. ...In conclusion, many rare missense variants and some truncating variants in CRX are likely …
The cone-rod homeobox (CRX) gene is specifically expressed in developing and mature photoreceptors and is relatively conserved …
Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.
Cevik S, Biswas SB, Biswas-Fiss EE. Cevik S, et al. Int J Mol Sci. 2023 Apr 14;24(8):7280. doi: 10.3390/ijms24087280. Int J Mol Sci. 2023. PMID: 37108442 Free PMC article.
Functional impairment caused by ABCA4 sequence variations is the leading cause of autosomal recessive inherited retinal disorders, including Stargardt disease, retinitis pigmentosa, and cone-rod dystrophy. To date, more than 3000 ABCA4 genetic variants have b …
Functional impairment caused by ABCA4 sequence variations is the leading cause of autosomal recessive inherited retinal disorders, including …
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Khateb S, et al. JAMA Ophthalmol. 2019 Jun 1;137(6):669-679. doi: 10.1001/jamaophthalmol.2018.6367. JAMA Ophthalmol. 2019. PMID: 30998820 Free PMC article.
IMPORTANCE: A precise phenotypic characterization of retinal dystrophies is needed for disease modeling as a basis for future therapeutic interventions. OBJECTIVE: To compare genotype, phenotype, and structural changes in patients with rod-cone dystrophy …
IMPORTANCE: A precise phenotypic characterization of retinal dystrophies is needed for disease modeling as a basis for future therape …
Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.
Mäntyjärvi M, Nurmenniemi P, Partanen J, Myöhänen T, Peippo M, Alitalo T. Mäntyjärvi M, et al. Acta Ophthalmol Scand. 2001 Aug;79(4):359-65. doi: 10.1034/j.1600-0420.2001.079004359.x. Acta Ophthalmol Scand. 2001. PMID: 11453854 Free article.
PURPOSE: To study a large family with X-linked progressive cone-rod dystrophy. METHODS: There were 128 members in the family. ...Otherwise the eye examination was normal. CONCLUSIONS: The clinical diagnosis of X-linked cone dystrophy 1 (COD1) is …
PURPOSE: To study a large family with X-linked progressive cone-rod dystrophy. METHODS: There were 128 members in the f …
In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone-Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A.
Shamsnajafabadi H, Kaukonen M, Bellingrath JS, MacLaren RE, Cehajic-Kapetanovic J. Shamsnajafabadi H, et al. Genes (Basel). 2024 May 15;15(5):625. doi: 10.3390/genes15050625. Genes (Basel). 2024. PMID: 38790254 Free PMC article.
Case 1 was a 24-year-old male with cone-rod dystrophy and retinal thickening typical of CRB1 retinopathy. ...(Cys948Tyr) and a novel variant, c.2833G>A, p.(Gly945Arg), which was predicted to likely be pathogenic by an in silico analysis. Cases 2 and …
Case 1 was a 24-year-old male with cone-rod dystrophy and retinal thickening typical of CRB1 retinopathy. ...(Cys948Tyr …
18 results