SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma
نویسندگان
چکیده
منابع مشابه
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated intraocular pressure (IOP); however, the genes and molecular mechanisms involved in the etiology of these defects have not been fully characterized. Previously, we observed P...
متن کاملPrimary Congenital Glaucoma
Glaucomas of the childhood are devastatinly deceptive in their presentations because of an insidious onset and late recognition. Primary congenital glaucomas (PCG) which serve as a prototype for glaucomas in the young Subtleties of diagnosis may lie in simple symptoms of watering and photophobia. This article is aimed to summarize all common manifestations and basics of surgical treatment, conv...
متن کاملGenetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma
Glaucoma is an irreversible form of optic neuropathy in which the optic nerve suffers damage in a characteristic manner with optic nerve cupping and retinal ganglion cell death. Primary congenital glaucoma (PCG) is an idiopathic irreversible childhood blinding disorder which manifests at birth or within the first year of life. PCG presents with a classical triad of symptoms (viz epiphora, photo...
متن کاملMolecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma
Primary congenital glaucoma (PCG) is a childhood irreversible blinding disorder with onset at birth or in the first year of life. It is characterized by the classical traid of symptoms viz. epiphora (excessive tearing), photophobia (hypersensitivity to light) and blepharospasm (inflammation of eyelids). The only anatomical defect seen in PCG is trabecular meshwork dysgenesis. PCG shows autosoma...
متن کاملA Case of Primary Congenital Glaucoma
An 11-year-old girl and a case of primary congenital glaucoma (PCG) with negative family history of glaucoma, was referred to our glaucoma service for uncontrolled intraocular pressure (IOP). Maximum tolerable medications and multiple glaucoma operations had failed to control her IOP. Review of the patient’s chart revealed an IOP of 30 mmHg and horizontal corneal diameter of 11.5 mm in both eye...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2020
ISSN: 1552-5783
DOI: 10.1167/iovs.61.12.6