Clinical and genetic characterization of a large primary open angle glaucoma pedigree
| العنوان: | Clinical and genetic characterization of a large primary open angle glaucoma pedigree |
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| المؤلفون: | Mohideen Abdul Kader, Alan L. Robin, Subbiah. R. Krishnadas, John H. Fingert, Ben R. Roos, Sundaresan Periasamy, Prasanthi Namburi, Sarika Ramugade, Rengappa Ramakrishnan |
| المصدر: | Ophthalmic Genetics. 38:222-225 |
| بيانات النشر: | Informa UK Limited, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, medicine.medical_specialty, genetic structures, Open angle glaucoma, Gonioscopy, India, Age at diagnosis, Glaucoma, Cell Cycle Proteins, Protein Serine-Threonine Kinases, Article, Ophthalmoscopy, Young Adult, 03 medical and health sciences, Transcription Factor TFIIIA, Ophthalmology, medicine, Humans, Eye Proteins, Intraocular Pressure, Genetics (clinical), Myocilin, Aged, Glycoproteins, Optineurin, medicine.diagnostic_test, Family structure, business.industry, Membrane Transport Proteins, Middle Aged, medicine.disease, eye diseases, Pedigree, Cytoskeletal Proteins, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Visual Field Tests, Female, Ocular Hypertension, sense organs, Visual Fields, business, Glaucoma, Open-Angle |
| الوصف: | To both characterize the clinical features of large primary open angle glaucoma (POAG) pedigree from a village in southern India and to investigate the genetic basis of their disease.Eighty-four members of a large pedigree received complete eye examinations including slit lamp examination, tonometry, gonioscopy, and ophthalmoscopy. Some were further studied with perimetry. Those diagnosed with POAG were tested for disease-causing mutations in the myocilin and optineurin genes with Sanger sequencing.Fourteen of 84 family members were diagnosed with POAG, while eight were clinically judged to be POAG-suspects. The family structure and the pattern of glaucoma in the pedigree are complex. Features of glaucoma in this pedigree include relatively early age at diagnosis (mean 50 ± 14 years) and maximum intraocular pressures ranging from 14 to 36 mm Hg with a mean of 23 mm Hg ± 6.5 mm Hg. Patients had an average central corneal thickness (mean 529 ± 37.8 microns) and moderate cup-to-disc ratios (0.74 ± 0.14). No mutations were detected in myocilin, optineurin, or TANK binding kinase 1 (TBK1).We report a five-generation pedigree with a complex pattern of POAG inheritance that includes 22 POAG patients and glaucoma suspects. Although the familial clustering of POAG in this pedigree is consistent with dominant inheritance of a glaucoma-causing gene, mutations were not detected in genes previously associated with autosomal dominant glaucoma, suggesting the involvement of a novel disease-causing gene in this pedigree. |
| تدمد: | 1744-5094 1381-6810 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc09002328c775003d099a8b3bcbcd86Test https://doi.org/10.1080/13816810.2016.1193883Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....bc09002328c775003d099a8b3bcbcd86 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17445094 13816810 |
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