PURPOSE Two consanguineous Pakistani families with autosomal recessive primary congenital glaucoma were recruited to identify the disease locus. METHODS Ophthalmic examinations including slit lamp biomicroscopy and applanation tonometry were employed to classify the phenotype. Blood samples were collected and genomic DNA was extracted. A genome wide scan was performed on both families with 38...

PURPOSE To identify the disease-causing mutations in three consanguineous Pakistani families with multiple members affected by primary congenital glaucoma. METHODS Blood samples were collected, and DNA was extracted. Linkage analysis for reported primary congenital glaucoma loci was performed using closely spaced polymorphic microsatellite markers on genomic DNA from affected and unaffected f...

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder that causes congenital glaucoma. Previous experiences have shown that drainage procedures are often required to control associated glaucoma. The conventional surgical approach in trabeculectomy carries a significant risk of intraoperative expulsive hemorrhage. Here, we describe a modified approach of the conventional trabe...

PURPOSE To screen the myocilin (MYOC) and forkhead box protein C1 (FOXC1) genes for sequence variations in primary congenital glaucoma (PCG). METHODS Seventy five PCG patients were screened for MYOC variations and 54 cases (negative or heterozygous for cytochrome P4501B1 mutations) for FOXC1 mutations by polymerase chain reaction (PCR) and DNA sequencing. RESULTS Five single nucleotide poly...

purpose: to report the outcomes of goniotomy in young children with primary congenital glaucoma. methods: this retrospective study included 26 eyes of 19 patients with primary congenital glaucoma who underwent goniotomy as the initial procedure. all patients were aged less than 3 years and had no history of previous ocular surgery. the main outcome measures were intraocular pressure (iop), cup/...

Despite being documented in medical history from over 2400 years ago, primary congenital glaucoma (PCG), being a disease with low incidence rate, remains a challenge to ophthalmologists. The article provides a broad overview on the pathophysiology and diagnostic approach to PCG with major emphasis on the treatment options of PCG. While reviewing on the well-established treatment options, namely...

INTRODUCTION Congenital glaucoma is frequently associated with visual impairment due to optic nerve damage, corneal opacities, cataracts and amblyopia. Poor vision in childhood is related to global developmental problems, and referral to vision habilitation/rehabilitation services should be without delay to promote efficient management of the impaired vision. OBJECTIVE To analyze data concern...

PURPOSE To investigate the clinical features of Korean patients with congenital aniridia. METHODS This retrospective study focused on 60 eyes from 31 patients who were diagnosed with congenital aniridia at Kangnam St. Mary's Hospital from 1996 to 2007. Patient age, gender, visual acuity (VA), family history, and previous ocular history were recorded. The presence of keratopathy, glaucoma, cat...

The aim of this study was to compare the visual acuity and intraocular pressure (IOP) in children who underwent either trabeculotomy or trabeculectomy as an initial surgical procedure for primary congenital glaucoma.This retrospective study involved 38 eyes (21 patients) with primary congenital glaucoma treated by trabeculotomy and 45 eyes (26 patients) that underwent trabeculectomy. The inclus...

PURPOSE The human Cytochrome P450 gene CYP1B1 has been implicated in primary congenital glaucoma worldwide. The aim of this study was to understand the role of CYP1B1 mutations in causing primary congenital glaucoma in Indian populations. METHODS The study included 64 new and unrelated cases of primary congenital glaucoma from different ethnic groups of India. Direct sequencing screened the c...