2022
DOI: 10.1001/jamaophthalmol.2022.0556
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Familial Glaucoma—A Pedigree Revisited With Genetic Testing After 70 Years

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Cited by 4 publications
(5 citation statements)
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“…Each of the patients with PCG enrolled in this study had previously tested negative for the CYP1B1 Glu50Lys mutation with Sanger sequencing as described 10 . All 20 patients with PCG were first tested for mutations at codon 1034 using standard Sanger sequencing methods as we have described 17 . The entire coding sequence of THBS1 was subsequently examined for disease-causing mutations in 18 of 20 patients with PCG using whole-exome sequencing with standard methods as we have described 18 .…”
Section: Methodsmentioning
confidence: 99%
See 1 more Smart Citation
“…Each of the patients with PCG enrolled in this study had previously tested negative for the CYP1B1 Glu50Lys mutation with Sanger sequencing as described 10 . All 20 patients with PCG were first tested for mutations at codon 1034 using standard Sanger sequencing methods as we have described 17 . The entire coding sequence of THBS1 was subsequently examined for disease-causing mutations in 18 of 20 patients with PCG using whole-exome sequencing with standard methods as we have described 18 .…”
Section: Methodsmentioning
confidence: 99%
“…10 All 20 patients with PCG were first tested for mutations at codon 1034 using standard Sanger sequencing methods as we have described. 17 The entire coding sequence of THBS1 was subsequently examined for disease-causing mutations in 18 of 20 patients with PCG using whole-exome sequencing with standard methods as we have described. 18 Whole-exome sequence for the control subjects including coding sequence data for the THBS1 gene was obtained as part of a reported pigmentary glaucoma genetics research project.…”
Section: Molecular Genetic Analysesmentioning
confidence: 99%
“…MYOC was found to not play a significant role amongst glaucoma patients in India [52]. Juvenile open angle glaucoma (JOAG) was described in a large pedigree in the US seventy years ago and today the Phe369Leu MYOC mutation was identified in the family [53].…”
Section: Mendelian Genetics Of Glaucomamentioning
confidence: 99%
“…The most common type of glaucoma is open-angle glaucoma, which affects nearly 57.5 million people worldwide, and, unfortunately, this is an increasing trend [ 4 , 5 ]. Particularly worrisome is the fact that the disease is asymptomatic for a long time, and 1 in 2 people with the disease are unaware of it [ 6 , 7 ]. Notably, the disease is 4 times more common in siblings and 2 times more common in the offspring of sufferers compared to the healthy population [ 6 , 7 ].…”
Section: Introductionmentioning
confidence: 99%
“…Particularly worrisome is the fact that the disease is asymptomatic for a long time, and 1 in 2 people with the disease are unaware of it [ 6 , 7 ]. Notably, the disease is 4 times more common in siblings and 2 times more common in the offspring of sufferers compared to the healthy population [ 6 , 7 ]. Important risk factors for the development of glaucoma include hypertension or hypotension, diabetes, migraine, myopia >4 diopters (D), and the use of steroid therapy [ 5 , 8 11 ].…”
Section: Introductionmentioning
confidence: 99%