Primary congenital and developmental glaucomas
| العنوان: | Primary congenital and developmental glaucomas |
|---|---|
| المؤلفون: | John H. Fingert, Carly J. Lewis, Edwin M. Stone, Wallace L.M. Alward, Adam P. DeLuca, Adam Hedberg-Buenz |
| المصدر: | Human Molecular Genetics. 26:R28-R36 |
| بيانات النشر: | Oxford University Press (OUP), 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, PAX6 Transcription Factor, genetic structures, CYP1B1, Glaucoma, Visual disability, Biology, 03 medical and health sciences, 0302 clinical medicine, Anterior Eye Segment, Genetics, medicine, Humans, Invited Reviews, Eye Abnormalities, Eye Proteins, Aniridia, Molecular Biology, Genetics (clinical), Homeodomain Proteins, Blindness, PITX2, Childhood blindness, Eye Diseases, Hereditary, Forkhead Transcription Factors, General Medicine, medicine.disease, eye diseases, 030104 developmental biology, Latent TGF-beta Binding Proteins, Cytochrome P-450 CYP1B1, Mutation, 030221 ophthalmology & optometry, sense organs, PAX6, Transcription Factors |
| الوصف: | Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cause of childhood blindness. Other early-onset glaucomas may arise secondary to developmental abnormalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome. Congenital and childhood glaucomas have strong genetic bases and disease-causing mutations have been discovered in several genes. Mutations in three genes (CYP1B1, LTBP2, TEK) have been reported in PCG patients. Axenfeld-Rieger syndrome is caused by mutations in PITX2 or FOXC1 and aniridia is caused by PAX6 mutations. This review discusses the roles of these genes in primary congenital glaucoma and glaucomas of childhood. |
| تدمد: | 1460-2083 0964-6906 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791dd924e5a4fb73d7bedfe1621490cdTest https://doi.org/10.1093/hmg/ddx205Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....791dd924e5a4fb73d7bedfe1621490cd |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14602083 09646906 |
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