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Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
Traboulsi EI, Payne JW. Traboulsi EI, et al. Arch Ophthalmol. 1993 Feb;111(2):194-6. doi: 10.1001/archopht.1993.01090020048021. Arch Ophthalmol. 1993. PMID: 8431155 Review.
Autosomal dominant vitreoretinochoroidopathy is a well-defined condition featuring presenile cataracts, vitreal degeneration, characteristic ophthalmoscopic findings, and good visual prognosis....
Autosomal dominant vitreoretinochoroidopathy is a well-defined condition featuring presenile cataracts, vitreal degeneration, characteristic …
Clinical features of the congenital vitreoretinopathies.
Edwards AO. Edwards AO. Eye (Lond). 2008 Oct;22(10):1233-42. doi: 10.1038/eye.2008.38. Epub 2008 Feb 29. Eye (Lond). 2008. PMID: 18309337 Review.
The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal …
The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including …
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.
Chen CJ, Kaufman S, Packo K, Stöhr H, Weber BH, Goldberg MF. Chen CJ, et al. Ophthalmic Genet. 2016;37(1):102-8. doi: 10.3109/13816810.2015.1039893. Epub 2016 Feb 5. Ophthalmic Genet. 2016. PMID: 26849243
Sanger dideoxy chain-termination sequencing identified mutations in BEST1. Bioinformatic tools were used to predict changes in splicing. An in vitro splicing assay was applied to evaluate for altered pre-mRNA splicing. ...The patient was heterozygous for a c.248G > A mi …
Sanger dideoxy chain-termination sequencing identified mutations in BEST1. Bioinformatic tools were used to predict changes in splici …
Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC).
Oh KT, Vallar C. Oh KT, et al. Am J Ophthalmol. 2006 May;141(5):940-3. doi: 10.1016/j.ajo.2005.11.041. Am J Ophthalmol. 2006. PMID: 16678511
CONCLUSION: Autosomal dominant vitreoretinochoroidopathy may result in central cone dysfunction because of macular atrophy late in the course of the disease, although electroretinography and visual fields remain stable over extended follow-up periods....
CONCLUSION: Autosomal dominant vitreoretinochoroidopathy may result in central cone dysfunction because of macular atrophy late in the co …