Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

نویسندگان
چکیده

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients

In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was is...

متن کامل

Variants in ASB10 are associated with open-angle glaucoma.

The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) in a large family with primary open angle glaucoma...

متن کامل

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

PURPOSE Juvenile open-angle glaucoma (JOAG) differs from primary open-angle glaucoma in that it is usually a more severe phenotype and has an earlier age of onset. Optineurin was recently associated with a variant of POAG that is characterized by intraocular pressure within normal limits: normal-tension glaucoma. The present study tested whether OPTN sequence changes play a role in early-onset ...

متن کامل

Clinical Characteristics of Juvenile-onset Open Angle Glaucoma.

PURPOSE To demonstrate the clinical characteristics of juvenile-onset open angle glaucoma (JOAG) and to evaluate the prognostic factors for visual field (VF) progression in eyes with JOAG. METHODS The medical records of 125 eyes of 72 patients with JOAG were analyzed retrospectively. At least four reliable VF tests were required to determine the VF progression, and the progression was defined...

متن کامل

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.

OBJECTIVES To investigate the prevalence of myocilin (MYOC) mutations in Italian families with glaucoma and to determine the relationship of these mutations to primary open-angle glaucoma (POAG), juvenile open-angle glaucoma (JOAG), and pigmentary dispersion glaucoma. METHODS Twenty-six patients with POAG were selected based on a positive family history of glaucoma. All patients and 210 relat...

متن کامل

ذخیره 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: Ophthalmology

سال: 2020

ISSN: 0161-6420

DOI: 10.1016/j.ophtha.2019.12.024