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Quoted phrase not found in phrase index: "Vitelliform macular dystrophy 1"
Page 1
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Ma DJ, et al. BMC Med Genomics. 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. BMC Med Genomics. 2021. PMID: 33691693 Free PMC article.
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines, in silico prediction tools, published literature, and compatibility wit …
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Associati …
INTRARETINAL HYPERREFLECTIVE LINES.
Amoroso F, Mrejen S, Pedinielli A, Tabary S, Souied EH, Gaudric A, Cohen SY. Amoroso F, et al. Retina. 2021 Jan 1;41(1):82-92. doi: 10.1097/IAE.0000000000002806. Retina. 2021. PMID: 32251237
Demographic data, imaging, course and outcome were retrospectively analyzed. RESULTS: Forty-nine eyes of 43 patients (16 men and 27 women) were included. Hyperreflective vertical lines (38 eyes) or curvilinear lines along the Henle fiber layer (11 eyes) were present in ass …
Demographic data, imaging, course and outcome were retrospectively analyzed. RESULTS: Forty-nine eyes of 43 patients (16 men and 27 w …
Best's vitelliform dystrophy.
Blodi CF, Stone EM. Blodi CF, et al. Ophthalmic Paediatr Genet. 1990 Mar;11(1):49-59. Ophthalmic Paediatr Genet. 1990. PMID: 2190134 Review.
Best's vitelliform dystrophy is an autosomal dominant disease that pathologically affects the retinal pigment epithelium and symmetrically affects the macula of patients at a very young age. ...
Best's vitelliform dystrophy is an autosomal dominant disease that pathologically affects the retinal pigment epithelium and s …
INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY.
Parodi MB, Romano F, Sacconi R, Casati S, Marchini G, Bandello F, Iacono P. Parodi MB, et al. Retina. 2018 Dec;38(12):2379-2386. doi: 10.1097/IAE.0000000000001893. Retina. 2018. PMID: 29065010
PURPOSE: To report on the presence of hyperreflective foci (HF) on spectral domain optical coherence tomography in patients with Best vitelliform macular dystrophy (BVMD), and to describe the relationship between HF and stages of the disease. ...
PURPOSE: To report on the presence of hyperreflective foci (HF) on spectral domain optical coherence tomography in patients with Best vit …
The best course of action.
Vaphiades MS, Nudleman E. Vaphiades MS, et al. Surv Ophthalmol. 2022 Mar-Apr;67(2):623-627. doi: 10.1016/j.survophthal.2021.01.013. Epub 2021 Jan 30. Surv Ophthalmol. 2022. PMID: 33524461
Pseudovitelliform macular degeneration.
Sabates R, Pruett RC, Hirose T. Sabates R, et al. Retina. 1982;2(4):197-205. Retina. 1982. PMID: 6101126
Forty-two patients with pseudovitelliform macular degeneration (VMD) were studied. The macular lesions were yellow in color, appeared as a slight elevation at the level of the retinal pigment epithelium (RPE), were usually 1/4 to 1/2 disc diameter in size and often …
Forty-two patients with pseudovitelliform macular degeneration (VMD) were studied. The macular lesions were yellow in color, a …
Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.
Miyagi M, Takeuchi J, Koyanagi Y, Mizobuchi K, Hayashi T, Ito Y, Terasaki H, Nishiguchi KM, Ueno S. Miyagi M, et al. Graefes Arch Clin Exp Ophthalmol. 2022 Apr;260(4):1125-1137. doi: 10.1007/s00417-021-05447-y. Epub 2021 Oct 18. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 34661736
PURPOSE: To determine the characteristics of eyes diagnosed with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB) complicated by choroidal neovascularization (CNV). ...CONCLUSIONS: CNV is a relatively common complicatio …
PURPOSE: To determine the characteristics of eyes diagnosed with Best vitelliform macular dystrophy (BVMD) and autosoma …
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W. Yang S, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2095. doi: 10.1002/mgg3.2095. Epub 2022 Nov 15. Mol Genet Genomic Med. 2023. PMID: 36378562 Free PMC article.
Three families with ARB were detected with heterozygous variants on the BEST1 gene.2 families (8 patients) with BVMD showed markedly irregular dominant inheritance, and the severity of macular lesions varies greatly among individuals of the same family. ...The phenotypes o …
Three families with ARB were detected with heterozygous variants on the BEST1 gene.2 families (8 patients) with BVMD showed markedly irregul …
Morphology and functional characteristics in adult vitelliform macular dystrophy.
Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Renner AB, et al. Retina. 2004 Dec;24(6):929-39. doi: 10.1097/00006982-200412000-00014. Retina. 2004. PMID: 15579992
PURPOSE: Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD). METHODS: The records of 61 consecutive AVMD patients (inclusion criterion: vitelliform lesion smaller than one disk diameter at least in one eye) wer …
PURPOSE: Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD). METHODS: The rec …
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography.
Battaglia Parodi M, Romano F, Cicinelli MV, Rabiolo A, Arrigo A, Pierro L, Iacono P, Bandello F. Battaglia Parodi M, et al. Am J Ophthalmol. 2018 Mar;187:61-70. doi: 10.1016/j.ajo.2017.12.013. Epub 2017 Dec 27. Am J Ophthalmol. 2018. PMID: 29288639
PURPOSE: To evaluate vascular abnormalities at superficial (SCP) and deep (DCP) capillary plexuses and choriocapillaris (CC) in patients with Best vitelliform macular dystrophy (BVMD) by means of optical coherence tomography angiography (OCT-A). ...These find …
PURPOSE: To evaluate vascular abnormalities at superficial (SCP) and deep (DCP) capillary plexuses and choriocapillaris (CC) in patients wit …
54 results