Glaucoma is an optic neuropathy and one of the leading causes of blindness. Its hereditary forms are classified into primary closed-angle (PCAG), primary open-angle (POAG) and primary congenital glaucoma (PCG). Although many loci have been mapped in human, only a few genes have been identified that are associated with the development of glaucoma and the genetic basis of the disease remains poor...

A REGULAR Mendelian dominant pattern of inheritance is characteristic of so-called juvenile glaucoma and some hundred genealogies have been recorded (Fran9ois, 1961), two-thirds showing one or two affected generations and the other third three to six generations. However, in a condition of such high prevalence as primary glaucoma, two successive affected generations are not sufficient to prove ...

The review is devoted to the genetic nature of congenital glaucoma (CG) and presents clinical forms hereditary single nucleotide polymorphisms identified by genome-wide association studies (GWAS). Glaucoma a genetically heterogeneous disease, patients with same diagnosis often have different molecular causes. role mutations in CYP1B1 gene has been proven pathogenesis hydrophthalmos; MYOC — juve...

This article aims to provide a concise overview of the existing literature on Sturge-Weber syndrome in infants. comprehensive review presents key information regarding prevalence, clinical characteristics, diagnostic methods, and available treatments based recent global research. is rare congenital neurocutaneous disorder, affecting approximately 1 20,000 50,000 new-born, caused by somatic muta...

© 2016 Journal of ophthalmic and Vision research | published by Wolters KluWer medKnoW Sir, We read with great interest the article titled “Association between refractive errors and ocular biometry in Iranian adults” by Hashemi et al[1] The authors aimed to evaluate the association between refractive errors and ocular biometry. We appreciate their valuable study and would like to make a comment...

Copyright © 2009 Massachusetts Medical Society. Glaucoma is a chronic, degenerative optic neuropathy that can be distinguished from most other forms of acquired optic neuropathy by the characteristic appearance of the optic nerve. In glaucoma, the neuroretinal rim of the optic nerve becomes progressively thinner, thereby enlarging the optic-nerve cup. This phenomenon is referred to as optic-ner...

Congenital iris ectropion is a rare condition; non-progressive anomaly characterised by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is frequently associated with anterior iris insertion, dysgenesis of the drainage angle and glaucoma. This paper describes unusual case of bilateral case of congenital iris ectropion in adult patient with pupillary abnorma...

purpose: to evaluate intermediate-term results of baerveldt tube implantation for treatment of refractory glaucoma in young patients. methods: we retrospectively studied 14 eyes of 11 consecutive patients aged<20 years with refractory glaucoma who underwent baerveldt tube implantation after 1 to 3 previous surgical procedures. the glaucoma was congenital in eight eyes and following congenital c...

PURPOSE To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New Zealand Registry of Advanced Glaucoma. METHODS In total, 50 PCG cases either heterozygous for disease-causing variants or with no CYP1B1 sequence variants were included in the ...